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94 results on '"Nelson, S.F."'

2. KAT6A Syndrome

Author

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T.Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J.L., McCormick, E., Hakonarson, H., Falk, M.J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C.A.L., Nibbeling, E., Dingemans, A.J.M., Douine, E.D., Nelson, S.F., Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V.A., Newbury-Ecob, R., and DDD Study

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020
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3. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author

Mannucci, I., Dang, N.D.P., Huber, H, Murry, J.B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P.J., Berland, S., Bierhals, T., Bilan, F., Bindoff, Laurence, Braathen, G.J., Busk, O.L., Chenbhanich, J., Denecke, J., Escobar, L.F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C.A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Guyader, G. Le, Ljungblad, U.W., Brenman, L.M., Martinez-Agosto, J.A., Might, M., Miller, D.T., Minks, K.Q., Moghaddam, B., Nava, C., Nelson, S.F., Parant, J.M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S.F., Schuurs-Hoeijmakers, J.H.M., Shieh, P.B., Slavotinek, A., Smithson, S., Stegmann, A.P.A., Tomczak, K., Tveten, K., Wang, J, Whitlock, J.H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N.C., Kreienkamp, H.J., Lessel, D., Mannucci, I., Dang, N.D.P., Huber, H, Murry, J.B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P.J., Berland, S., Bierhals, T., Bilan, F., Bindoff, Laurence, Braathen, G.J., Busk, O.L., Chenbhanich, J., Denecke, J., Escobar, L.F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C.A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Guyader, G. Le, Ljungblad, U.W., Brenman, L.M., Martinez-Agosto, J.A., Might, M., Miller, D.T., Minks, K.Q., Moghaddam, B., Nava, C., Nelson, S.F., Parant, J.M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S.F., Schuurs-Hoeijmakers, J.H.M., Shieh, P.B., Slavotinek, A., Smithson, S., Stegmann, A.P.A., Tomczak, K., Tveten, K., Wang, J, Whitlock, J.H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N.C., Kreienkamp, H.J., and Lessel, D.

Abstract

Contains fulltext : 245060.pdf (Publisher’s version ) (Open Access), BACKGROUND: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. METHODS: Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. We investigated the impact of novel missense variants with respect to ATPase and helicase activity, stress granule (SG) formation, global translation, and their effect on embryonic development in zebrafish. SG formation was additionally analyzed in CRISPR/Cas9-mediated DHX30-deficient HEK293T and zebrafish models, along with in vivo behavioral assays. RESULTS: We identified 25 previously unreported individuals, ten of whom carry novel variants, two of which are recurrent, and provide evidence of gonadal mosaicism in one family. All 19 individuals harboring heterozygous missense variants within helicase core motifs (HCMs) have global developmental delay, intellectual disability, severe speech impairment, and gait abnormalities. These variants impair the ATPase and helicase activity of DHX30, trigger SG formation, interfere with global translation, and cause developmental defects in a zebrafish model. Notably, 4 individuals harboring heterozygous variants resulting either in haploinsufficiency or truncated proteins presented with a milder clinical course, similar to an individual harboring a de novo mosaic HCM missense variant. Functionally, we established DHX30 as an ATP-dependent RNA helicase and as an evolutionary conserved factor in SG assembly. Based on the clinical course, the variant location, and type we establish two distinct clinical subtypes. DHX30 loss-of-function variants cause a milder phenotype whereas a severe phenotype is caused by HCM missense variants that, in addition to the loss of ATPase and helicase activity, lead to a detrimental gain-of-function with respect to SG formation. Behavioral characterization of dhx30-deficient

Published
2021

4. Insulin growth factor-binding protein 2 is a candidate biomarker for PTEN status and PI3K/Akt pathway activation in glioblastoma and prostate cancer

Author

Mehrian-Shai, R., Chen, C.D., Shi, T., Horvath, S., Nelson, S.F., Reichardt, J.K.V., and Sawyers, C.L.

Subjects
Glioblastoma multiforme -- Research, Brain cancer -- Research, Transforming growth factors -- Research, Binding proteins -- Research, Science and technology
Abstract

PTEN is an important tumor-suppressor gene associated with many cancers. Through expression profiling of glioblastoma tissue samples and prostate cancer xenografts, we identified a molecular signature for loss of the PTEN tumor suppressor in glioblastoma and prostate tumors. The PTEN signature consists of a minimum of nine genes, several of which are involved in various pathways already implicated in tumor formation. Among these signature genes, the most significant was an increase in insulin growth factor-binding protein 2 (IGFBP-2) mRNA. Up-regulation of IGFBP-2 was confirmed at the protein level by Western blot analysis and validated in samples not included in the microarray analysis. The link between IGFBP-2 and PTEN was of particular interest because elevated serum IGFBP-2 levels have been reported in patients with prostate and brain tumors. To further investigate this link, we determined that IGFBP-2 expression is negatively regulated by PTEN and positively regulated by phosphatidylinositol 3-kinase (PI3K) and Akt activation. In addition, Akt driven transformation is impaired in [IGFBP2.sup.-/-] mouse embryo fibro-blasts, implicating a functional role for IGFBP-2 in PTEN signaling. Collectively, these studies establish that PTEN and IGFBP-2 expression are inversely correlated in human brain and prostate cancers and implicate serum IGFBP-2 levels as a potential serum biomarker of PTEN status and PI3K Akt pathway activation in cancer patients. brain cancer | microarray

Published
2007

5. Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target

Author

Horvath, S., Zhang, B., Carlson, M., Lud, K.V., Zhu, S., Felciano, R.M., Laurance, M.F., Zhao, W., Qi, S., Chen, Z., Lee, Y., Scheck, A.C., Liau, L.M., Wu, H., Geschwind, D.H., Febbo, P.G., Kornblum, H.I., Cloughesy, T.F., Nelson, S.F., and Mischel, P.S.

Subjects
Glioblastoma multiforme -- Genetic aspects, Gene expression -- Research, Oncogenes -- Research, Science and technology
Abstract

Glioblastoma is the most common primary malignant brain tumor of adults and one of the most lethal of all cancers. Patients with this disease have a median survival of 15 months from the time of diagnosis despite surgery, radiation, and chemotherapy. New treatment approaches are needed. Recent works suggest that glioblastoma patients may benefit from molecularly targeted therapies. Here, we address the compelling need for identification of new molecular targets. Leveraging global gene expression data from two independent sets of clinical tumor samples (n = 55 and n = 65), we identify a gene coexpression module in glioblastoma that is also present in breast cancer and significantly overlaps with the 'metasignature' for undifferentiated cancer. Studies in an isogenic model system demonstrate that this module is downstream of the mutant epidermal growth factor receptor, EGFRvIII, and that it can be inhibited by the epidermal growth factor receptor tyrosine kinase inhibitor Erlotinib. We identify ASPM (abnormal spindle-like microcephaly associated) as a key gene within this module and demonstrate its overexpression in glioblastoma relative to normal brain (or body tissues). Finally, we show that ASPM inhibition by siRNA-mediated knockdown inhibits tumor cell proliferation and neural stem cell proliferation, supporting ASPM as a potential molecular target in glioblastoma. Our weighted gene coexpression network analysis provides a blueprint for leveraging genomic data to identify key control networks and molecular targets for glioblastoma, and the principle eluted from our work can be applied to other cancers. epidermal growth factor receptor vIII | Glioblastoma | modules | weighted gene coexpression network analysis | network-based screening

Published
2006

7. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Author

Bryant, L. (Laura), Li, D. (Dong), Cox, S.G. (Samuel G.), Marchione, D. (Dylan), Joiner, E.F. (Evan F.), Wilson, K. (Khadija), Janssen, K. (Kevin), Lee, P. (Pearl), March, K. (Keith), Nair, D. (Divya), Sherr, E. (Elliott), Fregeau, B. (Brieana), Wierenga, K.J. (Klaas J.), Wadley, A. (Alexandrea), Mancini, G.M.S. (Grazia), Powell-Hamilton, N. (Nina), Kamp, J.J.P. (Jacques) van de, Grebe, T. (Theresa), Dean, J. (John), Ross, A.J. (Alison), Crawford, H.P. (Heather P.), Powis, Z. (Zoe), Cho, M.T. (Megan T.), Willing, M.C. (Marcia C.), Manwaring, L. (Linda), Schot, R. (Rachel), Nava, C. (Caroline), Afenjar, A. (Alexandra), Lessel, D. (Davor), Wagner, M. (Matias), Klopstock, T. (Thomas), Winkelmann, B., Catarino, C.B. (Claudia B.), Retterer, K. (Kyle), Schuette, J.L. (Jane L.), Innis, J.W. (Jeffrey), Pizzino, A. (Amy), Lüttgen, S. (Sabine), Denecke, J. (Jonas), Strom, T.M. (Tim), Monaghan, K.G. (Kristin G.), Yuan, Z.-F. (Zuo-Fei), Dubbs, H. (Holly), Bend, R. (Renee), Lee, J.A. (Jennifer A.), Lyons, M.J. (Michael J.), Hoefele, J. (Julia), Günthner, R. (Roman), Reutter, H. (Heiko), Keren, B. (Boris), Radtke, K. (Kelly), Sherbini, O. (Omar), Mrokse, C. (Cameron), Helbig, K.L. (Katherine L.), Odent, S. (Sylvie), Cogne, B. (Benjamin), Mercier, S. (Sandra), Bezieau, S. (Stephane), Besnard, T. (Thomas), Kury, S. (Sebastien), Redon, R. (Richard), Reinson, K. (Karit), Wojcik, M.H. (Monica H.), Õunap, K. (Katrin), Ilves, P. (Pilvi), Innes, A.M. (A Micheil), Kernohan, K.D. (Kristin), Costain, G. (Gregory), Meyn, M.S. (M Stephen), Chitayat, D. (David), Zackai, E. (Elaine), Lehman, A. (Anna), Kitson, H. (Hilary), Martin, M.G. (Martin G.), Martinez-Agosto, J.A. (Julian A.), Nelson, S.F. (Stan F.), Palmer, C.G.S. (Christina G S), Papp, J.C. (Jeanette C.), Parker, N.H. (Neil H.), Sinsheimer, J.S. (Janet S.), Vilain, E. (Eric), Wan, J. (Jijun), Yoon, A.J. (Amanda J.), Zheng, A. (Allison), Brimble, E. (Elise), Ferrero, G.B. (Giovanni Battista), Radio, F.C. (Francesca Clementina), Carli, D. (Diana), Barresi, S. (Sabina), Brusco, A. (Alfredo), Tartaglia, M. (Marco), Thomas, J.M. (Jennifer Muncy), Umana, L. (Luis), Weiss, M.M. (Marjan M.), Gotway, G. (Garrett), Stuurman, K.E. (Kyra), Thompson, M.L. (Michelle L.), McWalter, K. (Kirsty), Stumpel, C.T.R.M. (Constance T R M), Stevens, S.J.C. (Servi J C), Stegmann, A.P.A. (Alexander P A), Tveten, K. (Kristian), Vøllo, A. (Arve), Prescott, T. (Trine), Fagerberg, C. (Christina), Laulund, L.W. (Lone Walentin), Larsen, M.J. (Martin J.), Byler, M. (Melissa), Lebel, R.R. (Robert Roger), Hurst, A.C. (Anna C.), Dean, J. (Joy), Schrier Vergano, S.A. (Samantha A.), Norman, J. (Jennifer), Mercimek-Andrews, S. (Saadet), Neira, J. (Juanita), Van Allen, M.I. (Margot I.), Longo, N. (Nicola), Sellars, E. (Elizabeth), Louie, R.J. (Raymond J.), Cathey, S.S. (Sara S.), Brokamp, E. (Elly), Héron, D. (Delphine), Snyder, M. (Molly), Vanderver, A. (Adeline), Simon, C. (Celeste), de la Cruz, X. (Xavier), Padilla, N. (Natália), Crump, J.G. (J Gage), Chung, W. (Wendy), Garcia, B. (Benjamin), Hakonarson, H. (Hakon), Bhoj, E.J. (Elizabeth J.), Bryant, L. (Laura), Li, D. (Dong), Cox, S.G. (Samuel G.), Marchione, D. (Dylan), Joiner, E.F. (Evan F.), Wilson, K. (Khadija), Janssen, K. (Kevin), Lee, P. (Pearl), March, K. (Keith), Nair, D. (Divya), Sherr, E. (Elliott), Fregeau, B. (Brieana), Wierenga, K.J. (Klaas J.), Wadley, A. (Alexandrea), Mancini, G.M.S. (Grazia), Powell-Hamilton, N. (Nina), Kamp, J.J.P. (Jacques) van de, Grebe, T. (Theresa), Dean, J. (John), Ross, A.J. (Alison), Crawford, H.P. (Heather P.), Powis, Z. (Zoe), Cho, M.T. (Megan T.), Willing, M.C. (Marcia C.), Manwaring, L. (Linda), Schot, R. (Rachel), Nava, C. (Caroline), Afenjar, A. (Alexandra), Lessel, D. (Davor), Wagner, M. (Matias), Klopstock, T. (Thomas), Winkelmann, B., Catarino, C.B. (Claudia B.), Retterer, K. (Kyle), Schuette, J.L. (Jane L.), Innis, J.W. (Jeffrey), Pizzino, A. (Amy), Lüttgen, S. (Sabine), Denecke, J. (Jonas), Strom, T.M. (Tim), Monaghan, K.G. (Kristin G.), Yuan, Z.-F. (Zuo-Fei), Dubbs, H. (Holly), Bend, R. (Renee), Lee, J.A. (Jennifer A.), Lyons, M.J. (Michael J.), Hoefele, J. (Julia), Günthner, R. (Roman), Reutter, H. (Heiko), Keren, B. (Boris), Radtke, K. (Kelly), Sherbini, O. (Omar), Mrokse, C. (Cameron), Helbig, K.L. (Katherine L.), Odent, S. (Sylvie), Cogne, B. (Benjamin), Mercier, S. (Sandra), Bezieau, S. (Stephane), Besnard, T. (Thomas), Kury, S. (Sebastien), Redon, R. (Richard), Reinson, K. (Karit), Wojcik, M.H. (Monica H.), Õunap, K. (Katrin), Ilves, P. (Pilvi), Innes, A.M. (A Micheil), Kernohan, K.D. (Kristin), Costain, G. (Gregory), Meyn, M.S. (M Stephen), Chitayat, D. (David), Zackai, E. (Elaine), Lehman, A. (Anna), Kitson, H. (Hilary), Martin, M.G. (Martin G.), Martinez-Agosto, J.A. (Julian A.), Nelson, S.F. (Stan F.), Palmer, C.G.S. (Christina G S), Papp, J.C. (Jeanette C.), Parker, N.H. (Neil H.), Sinsheimer, J.S. (Janet S.), Vilain, E. (Eric), Wan, J. (Jijun), Yoon, A.J. (Amanda J.), Zheng, A. (Allison), Brimble, E. (Elise), Ferrero, G.B. (Giovanni Battista), Radio, F.C. (Francesca Clementina), Carli, D. (Diana), Barresi, S. (Sabina), Brusco, A. (Alfredo), Tartaglia, M. (Marco), Thomas, J.M. (Jennifer Muncy), Umana, L. (Luis), Weiss, M.M. (Marjan M.), Gotway, G. (Garrett), Stuurman, K.E. (Kyra), Thompson, M.L. (Michelle L.), McWalter, K. (Kirsty), Stumpel, C.T.R.M. (Constance T R M), Stevens, S.J.C. (Servi J C), Stegmann, A.P.A. (Alexander P A), Tveten, K. (Kristian), Vøllo, A. (Arve), Prescott, T. (Trine), Fagerberg, C. (Christina), Laulund, L.W. (Lone Walentin), Larsen, M.J. (Martin J.), Byler, M. (Melissa), Lebel, R.R. (Robert Roger), Hurst, A.C. (Anna C.), Dean, J. (Joy), Schrier Vergano, S.A. (Samantha A.), Norman, J. (Jennifer), Mercimek-Andrews, S. (Saadet), Neira, J. (Juanita), Van Allen, M.I. (Margot I.), Longo, N. (Nicola), Sellars, E. (Elizabeth), Louie, R.J. (Raymond J.), Cathey, S.S. (Sara S.), Brokamp, E. (Elly), Héron, D. (Delphine), Snyder, M. (Molly), Vanderver, A. (Adeline), Simon, C. (Celeste), de la Cruz, X. (Xavier), Padilla, N. (Natália), Crump, J.G. (J Gage), Chung, W. (Wendy), Garcia, B. (Benjamin), Hakonarson, H. (Hakon), and Bhoj, E.J. (Elizabeth J.)

Abstract

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation. RNA sequencing on patient cells demonstrated up-regulated gene expression related to mitosis and cell division, and cellular assays confirmed an increased proliferative capacity. A zebrafish model showed craniofacial anomalies and a defect in Foxd3-derived glia. These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation.

Published
2020
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8. Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia

Author

Seal, J.L., Gornick, M.C., Gogtay, N., Shaw, P., Greenstein, D.K., Coffey, M., Gochman, P.A., Stromberg, T., Chen, Z., Merriman, B., Nelson, S.F., Brooks, J., Arepalli, S., Vrieze, F. Wavrant-De, Hardy, J., Rapoport, J.L., and Addington, A.M.

Subjects
Schizophrenia in children -- Genetic aspects, Schizophrenia in children -- Research, Aneuploidy -- Analysis, Health
Published
2006

11. A Gene Expression Profile of Aging in Mice

Author

Chen, Z., Merriman, B.L, and Nelson, S.F.

Subjects
Human genetics -- Research, Genetic disorders -- Research, Aging -- Molecular aspects, Mice -- Genetic aspects, Biological sciences
Published
2001

13. Genome-wide scan in Attention Deficit Hyperactivity Disorder (ADHD)

Author

Smalley, S.L., Fisher, S.E., Francks, C., Marlow, A.J., MacPhie, I.L., McCracken, J. T., McGough, J.J., Crawford, L., Kim, T., Liu, A., Nelson, S.F., and Monaco, A.P.

Subjects
Human genetics -- Research, Attention-deficit hyperactivity disorder -- Genetic aspects, Genetic disorders -- Research, Biological sciences
Published
2001

14. Fine-Scale SNP Genotyping for Autism using Single Base Extension and Tag Arrays

Author

Crawford, L., Smalley, S., and Nelson, S.F.

Subjects
Human genetics -- Research, Human chromosome abnormalities -- Research, Genetic disorders -- Research, Autism -- Genetic aspects, Genetic polymorphisms -- Usage, Chromosome mapping -- Usage, Genotype -- Identification and classification, Biological sciences
Published
2001

15. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Author

Oud, M.M., Bonnard, C., Mans, D.A., Altunoglu, U., Tohari, S., Ng, A.Y., Eskin, A., Lee, H., Rupar, C.A., Wagenaar, N.P. de, Wu, K.M., Lahiry, P., Pazour, G.J., Nelson, S.F., Hegele, R.A., Roepman, R., Kayserili, H., Venkatesh, B., Siu, V.M., Reversade, B., Arts, H.H., Oud, M.M., Bonnard, C., Mans, D.A., Altunoglu, U., Tohari, S., Ng, A.Y., Eskin, A., Lee, H., Rupar, C.A., Wagenaar, N.P. de, Wu, K.M., Lahiry, P., Pazour, G.J., Nelson, S.F., Hegele, R.A., Roepman, R., Kayserili, H., Venkatesh, B., Siu, V.M., Reversade, B., and Arts, H.H.

Abstract

Contains fulltext : 172344.pdf (publisher's version ) (Open Access), BACKGROUND: Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndrome, the Majewski and Mohr-Majewski short-rib thoracic dysplasia (SRTD) with polydactyly syndromes, and hydrolethalus syndrome. In this study, we present a novel homozygous ICK mutation in a fetus with ECO syndrome and compare the effect of this mutation with the previously reported ICK variant on ciliogenesis and cilium morphology. RESULTS: Through homozygosity mapping and whole-exome sequencing, we identified a second variant (c.358G > T; p.G120C) in ICK in a Turkish fetus presenting with ECO syndrome. In vitro studies of wild-type and mutant mRFP-ICK (p.G120C and p.R272Q) revealed that, in contrast to the wild-type protein that localizes along the ciliary axoneme and/or is present in the ciliary base, mutant proteins rather enrich in the ciliary tip. In addition, immunocytochemistry revealed a decreased number of cilia in ICK p.R272Q-affected cells. CONCLUSIONS: Through identification of a novel ICK mutation, we confirm that disruption of ICK causes ECO syndrome, which clinically overlaps with the spectrum of ciliopathies. Expression of ICK-mutated proteins result in an abnormal ciliary localization compared to wild-type protein. Primary fibroblasts derived from an individual with ECO syndrome display ciliogenesis defects. In aggregate, our findings are consistent with recent reports that show that ICK regulates ciliary biology in vitro and in mice, confirming that ECO syndrome is a severe ciliopathy.

Published
2016

16. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Author

Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Oud, M.M.; Bonnard, C.; Mans, D.A.; Altunoğlu, U.; Tohari, S.; Ng, A.Y.J.; Eskin, A.; Lee, H.; Rupar, C.A.; Wagenaar, N.P.; Wu, K.M.; Lahiry, P.; Pazour, G.J.; Nelson, S.F.; Hegele, R.A.; Roepman, R; Venkatesh, B.; Siu, V.M.; Reversade, B.; Arts, H.H., School of Medicine, Department of Medical Genetics, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Oud, M.M.; Bonnard, C.; Mans, D.A.; Altunoğlu, U.; Tohari, S.; Ng, A.Y.J.; Eskin, A.; Lee, H.; Rupar, C.A.; Wagenaar, N.P.; Wu, K.M.; Lahiry, P.; Pazour, G.J.; Nelson, S.F.; Hegele, R.A.; Roepman, R; Venkatesh, B.; Siu, V.M.; Reversade, B.; Arts, H.H., School of Medicine, and Department of Medical Genetics

Abstract

Background: Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndrome, the Majewski and Mohr-Majewski short-rib thoracic dysplasia (SRTD) with polydactyly syndromes, and hydrolethalus syndrome. In this study, we present a novel homozygous ICK mutation in a fetus with ECO syndrome and compare the effect of this mutation with the previously reported ICK variant on ciliogenesis and cilium morphology. Results: Through homozygosity mapping and whole-exome sequencing, we identified a second variant (c.358G > T; p.G120C) in ICK in a Turkish fetus presenting with ECO syndrome. In vitro studies of wild-type and mutant mRFP-ICK (p.G120C and p.R272Q) revealed that, in contrast to the wild-type protein that localizes along the ciliary axoneme and/or is present in the ciliary base, mutant proteins rather enrich in the ciliary tip. In addition, immunocytochemistry revealed a decreased number of cilia in ICK p.R272Q-affected cells. Conclusions: Through identification of a novel ICK mutation, we confirm that disruption of ICK causes ECO syndrome, which clinically overlaps with the spectrum of ciliopathies. Expression of ICK-mutated proteins result in an abnormal ciliary localization compared to wild-type protein. Primary fibroblasts derived from an individual with ECO syndrome display ciliogenesis defects. In aggregate, our findings are consistent with recent reports that show that ICK regulates ciliary biology in vitro and in mice, confirming that ECO syndrome is a severe ciliopathy., Dutch Kidney Foundation (KOUNCIL consortium project CP11.18 to HHA) and the Netherlands Organization for Health Research and Development (ZonMW Veni-91613008 to HHA) and the Netherlands Organization for Scientific research (NWO Vici-016130664 to RR). This work was also funded by a Strategic Positioning Fund on Genetic Orphan Diseases from A*STAR, Singapore, and the Scientific and Technological Research Council of Turkey (TÜBİTAK) (TUBITAK) by 112S398 to HK (E-RARE network CRANIRARE-2)

Published
2016

17. Identification of risk loci with shared effects on five major psychiatric disorders:a genome-wide analysis

Author

Smoller, J.W., Ripke, S., Lee, P.H., Neale, B., Nurnberger, J.I., Santangelo, S., Sullivan, P.F., Perlis, R.H., Purcell, S.M., Fanous, A., Neale, M.C., Rietschel, M., Schulze, T.G., Thapar, A., Anney, R., Buitelaar, J.K., Farone, S.V., Hoogendijk, W.J.G., Levinson, D.F., Lesch, K.P., Riley, B., Schachar, R., Sonuga-Barke, E.J., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O.A., Anjorin, A., Arking, D., Asherson, P., Azevedo, M.H., Backlund, L., Badner, J.A., Banaschewski, T., Barchas, J.D., Barnes, M.R., Bass, N., Bauer, M.C.R., Bellivier, F., Bergen, S.E., Berrettini, W., Bettecken, T., Biederman, J, Binder, E.B., Black, D.W., Blackwood, D.H., Bloss, C.S., Boehnke, M., Boomsma, D.I., Breen, G., Breuer, R., Buccola, N.G., Bunner, W.E., Burmeister, M., Buxbaum, J.D., Byerley, W. F., Sian, C., Cantor, R.M., Chakravarti, A., Chambert, K., Chicon, S., Cloniger, C.R., Collier, D.A., Cook, E., Coon, H., Corvin, A., Coryell, W.H., Craig, D.W., Craig, I.W., Curtis, D., Czamara, D., Daly, M., Datta, S., Day, R., de Geus, E.J.C., Degenhardt, F., Devlin, B., Srdjan, D., Doyle, A.E., Duan, J., Dudbridge, F., Edenberg, H.J., Elkin, A., Etain, B., Farmer, A.E., Ferreira, M.A.R., Ferrier, I.N., Flickinger, M., Foroud, T., Frank, J., Franke, B., Fraser, C., Freedman, R., Freimer, N.B., Friedl, M., Frisén, L., Gejman, P.V., Georgieva, L., Gershon, E.S., Giegling, I., Gill, M., Gordon, S.D., Gordon-Smith, K., Green, E.K., Greenwood, T.A., Gross, M., Grozeva, D., Guan, W., Gurling, H., Gustafsson, O., Hakonarson, H., Hamilton, S.P., Hamshere, M.L., Hansen, T.F., Hartmann, A.M., Hautzinger, M., Heath, A.C., Henders, A.K., Herms, S., Hickie, I.B., Hipolito, M., Hoefels, S., Holmans, P.A., Holsboer, F., Hottenga, J.J., Hultman, C. M., Ingason, A., Ising, M., Jamain, S., Jones, E.G., Jones, L., Jones, I., Jung-Ying, T., Kahler, A., Kandaswamy, R., Keller, M.C., Kelsoe, J., Kennedy, J.L., Kenny, E., Kim, Y., Kirov, G. K., Knowles, J.A., Kohli, M.A., Koller, D.L., Konte, B., Korszun, A., Krasucki, R., Kuntsi, J., Phoenix, K., Landén, M., Langstrom, N., Lathrop, M., Lawrence, J., Lawson, W.B., Leboyer, M., Lencz, T., Lewis, C.M., Li, J., Lichtenstein, P., Lieberman, J. A., Lin, D., Liu, C., Lohoff, F.W., Loo, S.K., Lucae, S., MacIntyre, D.J., Madden, P.A.F., Magnusson, P., Mahon, P.B., Maier, W., Malhotra, A.K., Mattheisen, M., Matthews, K., Mattingsdal, M., McCarroll, S., McGhee, K.A., McGough, J.J., McGrath, P.J., McGuffin, P., McInnis, M.G., McIntosh, A., McKinney, R., McClean, A.W., McMahon, F.J., McQuillin, A., Medeiros, H., Medland, S.E., Meier, S., Melle, I., Meng, F., Middeldorp, C.M., Middleton, L., Vihra, M., Mitchell, P.B., Montgomery, G.W., Moran, J., Morken, G., Morris, D.W., Moskvina, V., Mowry, B. J., Muglia, P., Mühleisen, T.W., Muir, W.J., Müller-Myhsok, B., Myers, R.M., Nelson, S.F., Nievergelt, C.M., Nikolovq, I., Nimgaonkar, V.L., Nolen, W.A., Nöthen, M.M., Nwulia, E.A., Nyholt, DR, O'Donovan, M.C., O'Dushlaine, C., Oades, R.D., Olincy, A., Olsen, L., Ophoff, R.A., Osby, U., Óskarsson, H., Owen, M.J., Palotie, A., Pato, M.T., Pato, C.N., Penninx, B.W.J.H., Pergadia, M.L., Petursson, H., Pickard, B.S., Pimm, J., Piven, J., Porgeirsson, P., Posthuma, D., Potash, J.B., Propping, J., Puri, V., Quested, D., Quinn, E.M., Rasmussen, H.B., Raychaudhuri, S., Rehnström, K., Reif, A., Rice, J., Rossin, L., Rothenberger, A., Rouleau, G., Ruderfer, D., Rujescu, D., Sanders, A.R., Schalling, M., Schatzberg, A.F., Scheftner, W.A., Schellenberg, G.D., Schofield, P.R., Schork, N.J., Schumacher, J., Schwarz, M.M., Scolnick, E., Scott, L.J., Shi, J., Shillling, P.D., Shyn, S.I., Sigurdsson, E., Silverman, J.M., Sklar, P., Slager, S.L., Smalley, S.L., Smit, J.H., Smith, E.N., Sonuga-Barke, E., St Clair, D., State, M., Stefansson, K., Stefansson, H., Steffans, M., Steinberg, S., Steinhausen, H.C., Strauss, J., Strohmaier, J., Stroup, T.S., Sutcliffe, J., Szatmari, P., Szelinger, S., Thirumalai, S., Thompson, R.C., Tozzi, F., Treutlein, J., Uhr, M., van den Oord, E.J., Grootheest, G., Vieland, V., Vincent, J.B., Visscher, P.M., Watson, S.J., Weissman, M.M., Werge, T., Wienker, T.F., Willemsen, G., Williamson, R., Witt, S.H., Wray, N.R., Wright, A., Xu, W., Young, A.H., Zammit, S., Zandi, P.P., Zhang, P., Zitman, F.G., Zöllner, S., Kendler, K.S., Psychiatry, Human genetics, Epidemiology and Data Science, NCA - Brain mechanisms in health and disease, NCA - Neurobiology of mental health, EMGO - Mental health, NCA - Brain imaging technology, Biological Psychology, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Mental Health, Neuroscience Campus Amsterdam - Brain Imaging Technology, Psychiatrie & Neuropsychologie, Farmacologie en Toxicologie, RS: CARIM School for Cardiovascular Diseases, RS: MHeNs School for Mental Health and Neuroscience, Oades, Robert D. (Beitragende*r), and Oades, Robert D.

Subjects
Netherlands Twin Register (NTR), Adult, medicine.medical_specialty, Bipolar Disorder, Calcium Channels, L-Type, Population, Medizin, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], medicine, ddc:61, Attention deficit hyperactivity disorder, Humans, DCN PAC - Perception action and control NCEBP 9 - Mental health, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Bipolar disorder, Age of Onset, Psychiatry, education, Child, Genetics, education.field_of_study, Depressive Disorder, Major, General Medicine, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], medicine.disease, Logistic Models, Autism spectrum disorder, Schizophrenia, Attention Deficit Disorder with Hyperactivity, Child Development Disorders, Pervasive, Genetic Loci, Expression quantitative trait loci, Major depressive disorder, Genome-Wide Association Study
Abstract

Item does not contain fulltext BACKGROUND: Findings from family and twin studies suggest that genetic contributions to psychiatric disorders do not in all cases map to present diagnostic categories. We aimed to identify specific variants underlying genetic effects shared between the five disorders in the Psychiatric Genomics Consortium: autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia. METHODS: We analysed genome-wide single-nucleotide polymorphism (SNP) data for the five disorders in 33,332 cases and 27,888 controls of European ancestory. To characterise allelic effects on each disorder, we applied a multinomial logistic regression procedure with model selection to identify the best-fitting model of relations between genotype and phenotype. We examined cross-disorder effects of genome-wide significant loci previously identified for bipolar disorder and schizophrenia, and used polygenic risk-score analysis to examine such effects from a broader set of common variants. We undertook pathway analyses to establish the biological associations underlying genetic overlap for the five disorders. We used enrichment analysis of expression quantitative trait loci (eQTL) data to assess whether SNPs with cross-disorder association were enriched for regulatory SNPs in post-mortem brain-tissue samples. FINDINGS: SNPs at four loci surpassed the cutoff for genome-wide significance (p

Published
2013
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18. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Author

Casey, J.P. Magalhaes, T. Conroy, J.M. Regan, R. Shah, N. Anney, R. Shields, D.C. Abrahams, B.S. Almeida, J. Bacchelli, E. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Bolshakova, N. Bolton, P.F. Bourgeron, T. Brennan, S. Cali, P. Correia, C. Corsello, C. Coutanche, M. Dawson, G. De Jonge, M. Delorme, R. Duketis, E. Duque, F. Estes, A. Farrar, P. Fernandez, B.A. Folstein, S.E. Foley, S. Fombonne, E. Freitag, C.M. Gilbert, J. Gillberg, C. Glessner, J.T. Green, J. Guter, S.J. Hakonarson, H. Holt, R. Hughes, G. Hus, V. Igliozzi, R. Kim, C. Klauck, S.M. Kolevzon, A. Lamb, J.A. Leboyer, M. Couteur, A.L. Leventhal, B.L. Lord, C. Lund, S.C. Maestrini, E. Mantoulan, C. Marshall, C.R. McConachie, H. McDougle, C.J. McGrath, J. McMahon, W.M. Merikangas, A. Miller, J. Minopoli, F. Mirza, G.K. Munson, J. Nelson, S.F. Nygren, G. Oliveira, G. Pagnamenta, A.T. Papanikolaou, K. Parr, J.R. Parrini, B. Pickles, A. Pinto, D. Piven, J. Posey, D.J. Poustka, A. Poustka, F. Ragoussis, J. Roge, B. Rutter, M.L. Sequeira, A.F. Soorya, L. Sousa, I. Sykes, N. Stoppioni, V. Tancredi, R. Tauber, M. Thompson, A.P. Thomson, S. Tsiantis, J. Van Engeland, H. Vincent, J.B. Volkmar, F. Vorstman, J.A.S. Wallace, S. Wang, K. Wassink, T.H. White, K. Wing, K. Wittemeyer, K. Yaspan, B.L. Zwaigenbaum, L. Betancur, C. Buxbaum, J.D. Cantor, R.M. Cook, E.H. Coon, H. Cuccaro, M.L. Geschwind, D.H. Haines, J.L. Hallmayer, J. Monaco, A.P. Nurnberger Jr., J.I. Pericak-Vance, M.A. Schellenberg, G.D. Scherer, S.W. Sutcliffe, J.S. Szatmari, P. Vieland, V.J. Wijsman, E.M. Green, A. Gill, M. Gallagher, L. Vicente, A. Ennis, S.

Subjects
mental disorders
Abstract

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data. © The Author(s) 2011.

Published
2012

19. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders

Author

Anney, R.J., Kenny, E.M., O'Dushlaine, C., Parkhomenka, E., Buxbaum, J.D., Sutcliffe, J., Gill, M., Gallagher, L., Bailey, A.J., Fernandez, B.A., Szatmari, P., Nurnberger Jr, J.I., McDougle, C.J., Posey, D.J., Lord, C., Corsello, C., Hus, V., Kolevzon, A., Soorya, L., Parkhomenko, E., Scherer, S.W., Leventhal, B.L., Dawson, G., Vieland, V.J., Hakonarson, H., Glessner, J.T., Kim, C., Wang, K., Schellenberg, G.D., Devlin, B., Klei, L., Patterson, A., Minshew, N., Sutcliffe, J.S., Haines, J.L., Lund, S.C., Thomson, S., Yaspan, B.L., Coon, H., Miller, J., McMahon, W.M., Munson, J., Marshall, C.R., Estes, A., Wijsman, EM., The Autism Genome Project, Pinto, D., Vincent, J.B., Fombonne, E., Betancur, C., Delorme, R., Leboyer, M., Bourgeron, T., Mantoulan, C., Roge, B., Tauber, M., Freitag, C.M., Poustka, F., Duketis, E., Klauck, S.M., Poustka, A., Papanikolaou, K., Tsiantis, J., Anney, R., Bolshakova, N., Brennan, S., Hughes, G., McGrath, J., Merikangas, A., Ennis, S., Green, A., Casey, J.P., Conroy, J.M., Regan, R., Shah, N., Maestrini, E., Bacchelli, E., Minopoli, F., Stoppioni, V., Battaglia, A., Igliozzi, R., Parrini, B., Tancredi, R., Oliveira, G., Almeida, J., Duque, F., Vicente, A.M., Correia, C., Magalhaes, T.R., Gillberg, C., Nygren, G., Jonge, M.D., Van Engeland, H., Vorstman, J.A., Wittemeyer, K., Baird, G., Bolton, P.F, Rutter, M.L., Green, J., Lamb, J.A., Pickles, A., Parr, J.R., Couteur, A.L., Berney, T., McConachie, H., Wallace, S., Coutanche, M., Foley, S., White, K., Monaco, A.P., Holt, R., Farrar, P., Pagnamenta, A.T., Mirza, G.K., Ragoussis, J., Sousa, I., Sykes, N., Wing, K., Hallmayer, J., Cantor, R.M., Nelson, S.F., Geschwind, D.H., Abrahams, B.S., Volkmar, F., Pericak-Vance, M.A., Cuccaro, M.L., Gilbert, J., Cook, E.H., Guter, S.J., and Jacob, S.

Subjects
Pathway analysis, Autism, Perturbações do Desenvolvimento Infantil e Saúde Mental, Gene ontology, Genome-wide association analysis, Family-based association test
Abstract

Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite the strong influence of genetic factors, association studies have yet to identify statistically robust, replicated major effect genes or SNPs. We apply the principle of the SNP ratio test methodology described by O'Dushlaine et al to over 2100 families from the Autism Genome Project (AGP). Using a two-stage design we examine association enrichment in 5955 unique gene-ontology classifications across four groupings based on two phenotypic and two ancestral classifications. Based on estimates from simulation we identify excess of association enrichment across all analyses. We observe enrichment in association for sets of genes involved in diverse biological processes, including pyruvate metabolism, transcription factor activation, cell-signalling and cell-cycle regulation. Both genes and processes that show enrichment have previously been examined in autistic disorders and offer biologically plausibility to these findings.

Published
2011

20. Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders

Author

Anney, R.J.L. Kenny, E.M. O'Dushlaine, C. Yaspan, B.L. Parkhomenka, E. Buxbaum, J.D. Sutcliffe, J. Gill, M. Gallagher, L. Bailey, A.J. Fernandez, B.A. Szatmari, P. Scherer, S.W. Patterson, A. Marshall, C.R. Pinto, D. Vincent, J.B. Fombonne, E. Betancur, C. Delorme, R. Leboyer, M. Bourgeron, T. Mantoulan, C. Roge, B. Tauber, M. Freitag, C.M. Poustka, F. Duketis, E. Klauck, S.M. Poustka, A. Papanikolaou, K. Tsiantis, J. Bolshakova, N. Brennan, S. Hughes, G. McGrath, J. Merikangas, A. Ennis, S. Green, A. Casey, J.P. Conroy, J.M. Regan, R. Shah, N. Maestrini, E. Bacchelli, E. Minopoli, F. Stoppioni, V. Battaglia, A. Igliozzi, R. Parrini, B. Tancredi, R. Oliveira, G. Almeida, J. Duque, F. Vicente, A. Correia, C. Magalhaes, T.R. Gillberg, C. Nygren, G. De Jonge, M. Van Engeland, H. Vorstman, J.A.S. Wittemeyer, K. Baird, G. Bolton, P.F. Rutter, M.L. Green, J. Lamb, J.A. Pickles, A. Parr, J.R. Le Couteur, A. Berney, T. McConachie, H. Wallace, S. Coutanche, M. Foley, S. White, K. Monaco, A.P. Holt, R. Farrar, P. Pagnamenta, A.T. Mirza, G.K. Ragoussis, J. Sousa, I. Sykes, N. Wing, K. Hallmayer, J. Cantor, R.M. Nelson, S.F. Geschwind, D.H. Abrahams, B.S. Volkmar, F. Pericak-Vance, M.A. Cuccaro, M.L. Gilbert, J. Cook, E.H. Guter, S.J. Jacob, S. Nurnberger, J.I., Jr. McDougle, C.J. Posey, D.J. Lord, C. Corsello, C. Hus, V. Kolevzon, A. Soorya, L. Parkhomenko, E. Leventhal, B.L. Dawson, G. Vieland, V.J. Hakonarson, H. Glessner, J.T. Kim, C. Wang, K. Schellenberg, G.D. Devlin, B. Klei, L. Minshew, N. Sutcliffe, J.S. Haines, J.L. Lund, S.C. Thomson, S. Coon, H. Miller, J. McMahon, W.M. Munson, J. Estes, A. Wijsman, E.M. Autism Genome Project

Abstract

Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite the strong influence of genetic factors, association studies have yet to identify statistically robust, replicated major effect genes or SNPs. We apply the principle of the SNP ratio test methodology described by O'Dushlaine et al to over 2100 families from the Autism Genome Project (AGP). Using a two-stage design we examine association enrichment in 5955 unique gene-ontology classifications across four groupings based on two phenotypic and two ancestral classifications. Based on estimates from simulation we identify excess of association enrichment across all analyses. We observe enrichment in association for sets of genes involved in diverse biological processes, including pyruvate metabolism, transcription factor activation, cell-signalling and cell-cycle regulation. Both genes and processes that show enrichment have previously been examined in autistic disorders and offer biologically plausibility to these findings. © 2011 Macmillan Publishers Limited All rights reserved.

Published
2011

21. Research update : Atmospheric pressure spatial atomic layer deposition of ZnO thin films : reactors, doping and devices

Author

Hoye, R.L.Z., Muñoz-Rojas, D., Nelson, S.F., Illiberi, A., Poodt, P., Roozeboom, F., MacManus-Driscoll, J.L., Hoye, R.L.Z., Muñoz-Rojas, D., Nelson, S.F., Illiberi, A., Poodt, P., Roozeboom, F., and MacManus-Driscoll, J.L.

Abstract

Atmospheric pressure spatial atomic layer deposition (AP-SALD) has recently emerged as an appealing technique for rapidly producing high quality oxides. Here, we focus on the use of AP-SALD to deposit functional ZnO thin films, particularly on the reactors used, the film properties, and the dopants that have been studied. We highlight how these films are advantageous for the performance of solar cells, organometal halide perovskite light emitting diodes, and thin-film transistors. Future AP-SALD technology will enable the commercial processing of thin films over large areas on a sheet-to-sheet and roll-to-roll basis, with new reactor designs emerging for flexible plastic and paper electronics.

Published
2015

22. Functional impact of global rare copy number variation in autism spectrum disorders

Author

Pinto, D. Pagnamenta, A.T. Klei, L. Anney, R. Merico, D. Regan, R. Conroy, J. Magalhaes, T.R. Correia, C. Abrahams, B.S. Almeida, J. Bacchelli, E. Bader, G.D. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Bolshakova, N. Bölte, S. Bolton, P.F. Bourgeron, T. Brennan, S. Brian, J. Bryson, S.E. Carson, A.R. Casallo, G. Casey, J. Chung, B.H.Y. Cochrane, L. Corsello, C. Crawford, E.L. Crossett, A. Cytrynbaum, C. Dawson, G. De Jonge, M. Delorme, R. Drmic, I. Duketis, E. Duque, F. Estes, A. Farrar, P. Fernandez, B.A. Folstein, S.E. Fombonne, E. Freitag, C.M. Gilbert, J. Gillberg, C. Glessner, J.T. Goldberg, J. Green, A. Green, J. Guter, S.J. Hakonarson, H. Heron, E.A. Hill, M. Holt, R. Howe, J.L. Hughes, G. Hus, V. Igliozzi, R. Kim, C. Klauck, S.M. Kolevzon, A. Korvatska, O. Kustanovich, V. Lajonchere, C.M. Lamb, J.A. Laskawiec, M. Leboyer, M. Le Couteur, A. Leventhal, B.L. Lionel, A.C. Liu, X.-Q. Lord, C. Lotspeich, L. Lund, S.C. Maestrini, E. Mahoney, W. Mantoulan, C. Marshall, C.R. McConachie, H. McDougle, C.J. McGrath, J. McMahon, W.M. Merikangas, A. Migita, O. Minshew, N.J. Mirza, G.K. Munson, J. Nelson, S.F. Noakes, C. Noor, A. Nygren, G. Oliveira, G. Papanikolaou, K. Parr, J.R. Parrini, B. Paton, T. Pickles, A. Pilorge, M. Piven, J. Ponting, C.P. Posey, D.J. Poustka, A. Poustka, F. Prasad, A. Ragoussis, J. Renshaw, K. Rickaby, J. Roberts, W. Roeder, K. Roge, B. Rutter, M.L. Bierut, L.J. Rice, J.P. Salt, J. Sansom, K. Sato, D. Segurado, R. Sequeira, A.F. Senman, L. Shah, N. Sheffield, V.C. Soorya, L. Sousa, I. Stein, O. Sykes, N. Stoppioni, V. Strawbridge, C. Tancredi, R. Tansey, K. Thiruvahindrapduram, B. Thompson, A.P. Thomson, S. Tryfon, A. Tsiantis, J. Van Engeland, H. Vincent, J.B. Volkmar, F. Wallace, S. Wang, K. Wang, Z. Wassink, T.H. Webber, C. Weksberg, R. Wing, K. Wittemeyer, K. Wood, S. Wu, J. Yaspan, B.L. Zurawiecki, D. Zwaigenbaum, L. Buxbaum, J.D. Cantor, R.M. Cook, E.H. Coon, H. Cuccaro, M.L. Devlin, B. Ennis, S. Gallagher, L. Geschwind, D.H. Gill, M. Haines, J.L. Hallmayer, J. Miller, J. Monaco, A.P. Nurnberger Jr, J.I. Paterson, A.D. Pericak-Vance, M.A. Schellenberg, G.D. Szatmari, P. Vicente, A.M. Vieland, V.J. Wijsman, E.M. Scherer, S.W. Sutcliffe, J.S. Betancur, C.

Subjects
mental disorders
Abstract

The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours 1. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability2. Although ASDs are known to be highly heritable ( ∼90%)3, the underlying genetic determinants are still largely unknown.Hereweanalysed the genome-wide characteristics of rare (

Published
2010

23. A genome-wide scan for common alleles affecting risk for autism

Author

Anney, R. Klei, L. Pinto, D. Regan, R. Conroy, J. Magalhaes, T.R. Correia, C. Abrahams, B.S. Sykes, N. Pagnamenta, A.T. Almeida, J. Bacchelli, E. Bailey, A.J. Baird, G. Battaglia, A. Berney, T. Bolshakova, N. Bölte, S. Bolton, P.F. Bourgeron, T. Brennan, S. Brian, J. Carson, A.R. Casallo, G. Casey, J. Chu, S.H. Cochrane, L. Corsello, C. Crawford, E.L. Crossett, A. Dawson, G. de Jonge, M. Delorme, R. Drmic, I. Duketis, E. Duque, F. Estes, A. Farrar, P. Fernandez, B.A. Folstein, S.E. Fombonne, E. Freitag, C.M. Gilbert, J. Gillberg, C. Glessner, J.T. Goldberg, J. Green, J. Guter, S.J. Hakonarson, H. Heron, E.A. Hill, M. Holt, R. Howe, J.L. Hughes, G. Hus, V. Igliozzi, R. Kim, C. Klauck, S.M. Kolevzon, A. Korvatska, O. Kustanovich, V. Lajonchere, C.M. Lamb, J.A. Laskawiec, M. Leboyer, M. Le Couteur, A. Leventhal, B.L. Lionel, A.C. Liu, X.-Q. Lord, C. Lotspeich, L. Lund, S.C. Maestrini, E. Mahoney, W. Mantoulan, C. Marshall, C.R. McConachie, H. McDougle, C.J. McGrath, J. McMahon, W.M. Melhem, N.M. Merikangas, A. Migita, O. Minshew, N.J. Mirza, G.K. Munson, J. Nelson, S.F. Noakes, C. Noor, A. Nygren, G. Oliveira, G. Papanikolaou, K. Parr, J.R. Parrini, B. Paton, T. Pickles, A. Piven, J. Posey, D.J. Poustka, A. Poustka, F. Prasad, A. Ragoussis, J. Renshaw, K. Rickaby, J. Roberts, W. Roeder, K. Roge, B. Rutter, M.L. Bierut, L.J. Rice, J.P. Salt, J. Sansom, K. Sato, D. Segurado, R. Senman, L. Shah, N. Sheffield, V.C. Soorya, L. Sousa, I. Stoppioni, V. Strawbridge, C. Tancredi, R. Tansey, K. Thiruvahindrapduram, B. Thompson, A.P. Thomson, S. Tryfon, A. Tsiantis, J. van Engeland, H. Vincent, J.B. Volkmar, F. Wallace, S. Wang, K. Wang, Z. Wassink, T.H. Wing, K. Wittemeyer, K. Wood, S. Yaspan, B.L. Zurawiecki, D. Zwaigenbaum, L. Betancur, C. Buxbaum, J.D. Cantor, R.M. Cook, E.H. Coon, H. Cuccaro, M.L. Gallagher, L. Geschwind, D.H. Gill, M. Haines, J.L. Miller, J. Monaco, A.P. Nurnberger Jr., J.I. Paterson, A.D. Pericak-Vance, M.A. Schellenberg, G.D. Scherer, S.W. Sutcliffe, J.S. Szatmari, P. Vicente, A.M. Vieland, V.J. Wijsman, E.M. Devlin, B. Ennis, S. Hallmayer, J.

Abstract

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 3 10-28. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10-28 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C. © The Author 2010. Published by Oxford University Press. All rights reserved.

Published
2010

24. Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.

Author

Yang, L., Neale, B.M., Liu, L., Lee, S.H., Wray, N.R., Ji, N., Qian, Q., Wang, D., Li, J., Faraone, S.V., Wang, Y., Doyle, A.E., Reif, A., Rothenberger, A., Franke, B., Sonuga-Barke, E.J., Steinhausen, H.C., Buitelaar, J.K., Kuntsi, J., Biederman, J., Lesch, K.P., Kent, L., Asherson, P., Oades, R.D., Loo, S.K., Nelson, S.F., Smalley, S.L., Banaschewski, T., Arias Vasquez, A., et al., Yang, L., Neale, B.M., Liu, L., Lee, S.H., Wray, N.R., Ji, N., Qian, Q., Wang, D., Li, J., Faraone, S.V., Wang, Y., Doyle, A.E., Reif, A., Rothenberger, A., Franke, B., Sonuga-Barke, E.J., Steinhausen, H.C., Buitelaar, J.K., Kuntsi, J., Biederman, J., Lesch, K.P., Kent, L., Asherson, P., Oades, R.D., Loo, S.K., Nelson, S.F., Smalley, S.L., Banaschewski, T., Arias Vasquez, A., and et al.

Abstract

Item does not contain fulltext

Published
2013

25. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

Author

Hodgkinson S., Hajj-Ali R.A., Kothari P.H., Nelson S.F., Frants R.R., Baloh R.W., Ferrari M.D., Atkinson J.P., Richards A., Van Den Maagdenberg A.M.J.M., Jen J.C., Kavanagh D., Bertram P., Spitzer D., Liszewski M.K., Barilla-Labarca M.-L., Terwindt G.M., Kasai Y., McLellan M., Grand M.G., Vanmolkot K.R.J., De Vries B., Wan J., Kane M.J., Mamsa H., Schafer R., Stam A.H., Haan J., De Jong P.T.V.M., Storimans C.W., Van Schooneveld M.J., Oosterhuis J.A., Gschwendter A., Dichgans M., Kotschet K.E., Hardy T.A., Delatycki M.B., Hodgkinson S., Hajj-Ali R.A., Kothari P.H., Nelson S.F., Frants R.R., Baloh R.W., Ferrari M.D., Atkinson J.P., Richards A., Van Den Maagdenberg A.M.J.M., Jen J.C., Kavanagh D., Bertram P., Spitzer D., Liszewski M.K., Barilla-Labarca M.-L., Terwindt G.M., Kasai Y., McLellan M., Grand M.G., Vanmolkot K.R.J., De Vries B., Wan J., Kane M.J., Mamsa H., Schafer R., Stam A.H., Haan J., De Jong P.T.V.M., Storimans C.W., Van Schooneveld M.J., Oosterhuis J.A., Gschwendter A., Dichgans M., Kotschet K.E., Hardy T.A., and Delatycki M.B.

Abstract

Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease activity but lose normal perinuclear localization. These data have implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias. © 2007 Nature Publishing Group.

Published
2012

26. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.

Author

Elia, J., Glessner, J.T., Wang, K., Takahashi, N., Shtir, C.J., Hadley, D., Sleiman, P.M., Zhang, H., Kim, C.E., Robison, R., Lyon, G.J., Flory, J.H., Bradfield, J.P., Imielinski, M., Hou, C., Frackelton, E.C., Chiavacci, R.M., Sakurai, T., Rabin, C., Middleton, F.A., Thomas, K.A., Garris, M., Mentch, F., Freitag, C.M., Steinhausen, H.C., Todorov, A.A., Reif, A., Rothenberger, A., Franke, B., Mick, E.O., Roeyers, H., Buitelaar, J.K., Lesch, K.P., Banaschewski, T., Ebstein, R.P., Mulas, F., Oades, R.D., Sergeant, J.A., Sonuga-Barke, E.J.S., Renner, T.J., Romanos, M., Romanos, J., Warnke, A., Walitza, S., Meyer, J., Palmason, H., Seitz, C., Loo, S.K., Smalley, S.L., Biederman, J., Kent, L., Asherson, P., Anney, R.J., Gaynor, J.W., Shaw, P., Devoto, M., White, P.S., Grant, S.F., Buxbaum, J.D., Rapoport, J.L., Williams, N.M., Nelson, S.F., Faraone, S.V., Hakonarson, H., Elia, J., Glessner, J.T., Wang, K., Takahashi, N., Shtir, C.J., Hadley, D., Sleiman, P.M., Zhang, H., Kim, C.E., Robison, R., Lyon, G.J., Flory, J.H., Bradfield, J.P., Imielinski, M., Hou, C., Frackelton, E.C., Chiavacci, R.M., Sakurai, T., Rabin, C., Middleton, F.A., Thomas, K.A., Garris, M., Mentch, F., Freitag, C.M., Steinhausen, H.C., Todorov, A.A., Reif, A., Rothenberger, A., Franke, B., Mick, E.O., Roeyers, H., Buitelaar, J.K., Lesch, K.P., Banaschewski, T., Ebstein, R.P., Mulas, F., Oades, R.D., Sergeant, J.A., Sonuga-Barke, E.J.S., Renner, T.J., Romanos, M., Romanos, J., Warnke, A., Walitza, S., Meyer, J., Palmason, H., Seitz, C., Loo, S.K., Smalley, S.L., Biederman, J., Kent, L., Asherson, P., Anney, R.J., Gaynor, J.W., Shaw, P., Devoto, M., White, P.S., Grant, S.F., Buxbaum, J.D., Rapoport, J.L., Williams, N.M., Nelson, S.F., Faraone, S.V., and Hakonarson, H.

Abstract

Item does not contain fulltext, Attention deficit hyperactivity disorder (ADHD) is a common, heritable neuropsychiatric disorder of unknown etiology. We performed a whole-genome copy number variation (CNV) study on 1,013 cases with ADHD and 4,105 healthy children of European ancestry using 550,000 SNPs. We evaluated statistically significant findings in multiple independent cohorts, with a total of 2,493 cases with ADHD and 9,222 controls of European ancestry, using matched platforms. CNVs affecting metabotropic glutamate receptor genes were enriched across all cohorts (P = 2.1 x 10(-9)). We saw GRM5 (encoding glutamate receptor, metabotropic 5) deletions in ten cases and one control (P = 1.36 x 10(-6)). We saw GRM7 deletions in six cases, and we saw GRM8 deletions in eight cases and no controls. GRM1 was duplicated in eight cases. We experimentally validated the observed variants using quantitative RT-PCR. A gene network analysis showed that genes interacting with the genes in the GRM family are enriched for CNVs in approximately 10% of the cases (P = 4.38 x 10(-10)) after correction for occurrence in the controls. We identified rare recurrent CNVs affecting glutamatergic neurotransmission genes that were overrepresented in multiple ADHD cohorts.

Published
2011

27. Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder.

Author

Zhou, K., Dempfle, A., Arcos-Burgos, M., Bakker, S.C., Banaschewski, T., Biederman, J., Buitelaar, J.K., Castellanos, F.X., Doyle, A., Ebstein, R.P., Ekholm, J., Forabosco, P., Franke, B., Freitag, C., Friedel, S., Gill, M., Hebebrand, J., Hinney, A., Jacob, C., Lesch, K.P., Loo, S.K., Lopera, F., McCracken, J.T., McGough, J.J., Meyer, J., Mick, E., Miranda, A., Muenke, M., Mulas, F., Nelson, S.F., Nguyen, T.T., Oades, R.D., Ogdie, M.N., Palacio, J.D., Pineda, D., Reif, A., Renner, T.J., Roeyers, H., Romanos, M., Rothenberger, A., Schafer, H., Sergeant, J.A., Sinke, R.J., Smalley, S.L., Sonuga-Barke, E.J.S., Steinhausen, H.C., Meulen, E. van der, Walitza, S., Warnke, A., Lewis, C.M., Faraone, S.V., Asherson, P., Zhou, K., Dempfle, A., Arcos-Burgos, M., Bakker, S.C., Banaschewski, T., Biederman, J., Buitelaar, J.K., Castellanos, F.X., Doyle, A., Ebstein, R.P., Ekholm, J., Forabosco, P., Franke, B., Freitag, C., Friedel, S., Gill, M., Hebebrand, J., Hinney, A., Jacob, C., Lesch, K.P., Loo, S.K., Lopera, F., McCracken, J.T., McGough, J.J., Meyer, J., Mick, E., Miranda, A., Muenke, M., Mulas, F., Nelson, S.F., Nguyen, T.T., Oades, R.D., Ogdie, M.N., Palacio, J.D., Pineda, D., Reif, A., Renner, T.J., Roeyers, H., Romanos, M., Rothenberger, A., Schafer, H., Sergeant, J.A., Sinke, R.J., Smalley, S.L., Sonuga-Barke, E.J.S., Steinhausen, H.C., Meulen, E. van der, Walitza, S., Warnke, A., Lewis, C.M., Faraone, S.V., and Asherson, P.

Abstract

Contains fulltext : 69243.pdf (publisher's version ) (Closed access), Genetic contribution to the development of attention deficit hyperactivity disorder (ADHD) is well established. Seven independent genome-wide linkage scans have been performed to map loci that increase the risk for ADHD. Although significant linkage signals were identified in some of the studies, there has been limited replications between the various independent datasets. The current study gathered the results from all seven of the ADHD linkage scans and performed a Genome Scan Meta Analysis (GSMA) to identify the genomic region with most consistent linkage evidence across the studies. Genome-wide significant linkage (P(SR) = 0.00034, P(OR) = 0.04) was identified on chromosome 16 between 64 and 83 Mb. In addition there are nine other genomic regions from the GSMA showing nominal or suggestive evidence of linkage. All these linkage results may be informative and focus the search for novel ADHD susceptibility genes.

Published
2008

28. D.I.4 Patient fibroblast functional complementation studies: A valuable tool in the identification of novel Walker–Warburg syndrome disease genes

Author

Willer, T., primary, Lee, H., additional, Lommel, M., additional, Yoshida-Moriguchi, T., additional, Beltran Valero de Bernabe, D., additional, Venzke, D., additional, Cirak, S., additional, Schachter, H., additional, Vajsar, J., additional, Voit, T., additional, Muntoni, F., additional, Strahl, S., additional, Mathews, K.D., additional, Nelson, S.F., additional, Moore, S.A., additional, and Campbell, K.P., additional

Published
2012
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29. Differential Gene Expression in Glioblastoma Defined by ADC Histogram Analysis: Relationship to Extracellular Matrix Molecules and Survival

Author

Pope, W.B., primary, Mirsadraei, L., additional, Lai, A., additional, Eskin, A., additional, Qiao, J., additional, Kim, H.J., additional, Ellingson, B., additional, Nghiemphu, P.L., additional, Kharbanda, S., additional, Soriano, R.H., additional, Nelson, S.F., additional, Yong, W., additional, Phillips, H.S., additional, and Cloughesy, T.F., additional

Published
2012
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30. Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes.

Author

Lowe, N., Kirley, A., Hawi, Z., Sham, P., Wickham, H., Kratochvil, C.J., Smith, S.D., Lee, S.Y., Levy, F., Kent, L., Middle, F., Rohde, L.A., Roman, T., Tahir, E., Yazgan, Y., Asherson, P., Mill, J., Thapar, A., Payton, A., Todd, R.D., Stephens, T., Ebstein, R.P., Manor, I., Barr, C.L., Wigg, K.G., Sinke, R.J., Smalley, S.L., Nelson, S.F., Biederman, J., Faraone, S.V., Gill, M., Lowe, N., Kirley, A., Hawi, Z., Sham, P., Wickham, H., Kratochvil, C.J., Smith, S.D., Lee, S.Y., Levy, F., Kent, L., Middle, F., Rohde, L.A., Roman, T., Tahir, E., Yazgan, Y., Asherson, P., Mill, J., Thapar, A., Payton, A., Todd, R.D., Stephens, T., Ebstein, R.P., Manor, I., Barr, C.L., Wigg, K.G., Sinke, R.J., Smalley, S.L., Nelson, S.F., Biederman, J., Faraone, S.V., and Gill, M.

Abstract

Item does not contain fulltext, Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable, heterogeneous disorder of early onset, consisting of a triad of symptoms: inattention, hyperactivity, and impulsivity. The disorder has a significant genetic component, and theories of etiology include abnormalities in the dopaminergic system, with DRD4, DAT1, SNAP25, and DRD5 being implicated as major susceptibility genes. An initial report of association between ADHD and the common 148-bp allele of a microsatellite marker located 18.5 kb from the DRD5 gene has been followed by several studies showing nonsignificant trends toward association with the same allele. To establish the postulated association of the (CA)(n) repeat with ADHD, we collected genotypic information from 14 independent samples of probands and their parents, analyzed them individually and, in the absence of heterogeneity, analyzed them as a joint sample. The joint analysis showed association with the DRD5 locus (P=.00005; odds ratio 1.24; 95% confidence interval 1.12-1.38). This association appears to be confined to the predominantly inattentive and combined clinical subtypes.

Published
2004

32. Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance

Author

Reversade, B., primary, Escande-Beillard, N., additional, Dimopoulou, A., additional, Fischer, B., additional, Li, Y., additional, Kayserili, H., additional, Al-Gazali, L., additional, Brancati, F., additional, Lee, H., additional, O'Connor, B., additional, Kornak, U., additional, Schmidt-von Kegler, M., additional, Merriman, B., additional, Nelson, S.F., additional, Masri, A., additional, Guerra, D., additional, nanda, A., additional, Rajab, A., additional, Grix, A., additional, Sommer, A., additional, Janecke, A.R., additional, Steichen, E., additional, Nürnberg, P., additional, Seemann, P., additional, Zambruno, G., additional, Dallapiccola, B., additional, Schuelke, M., additional, Robertson, S., additional, Hamamy, H., additional, Wollnik, B., additional, Van Maldergem, L., additional, and Mundlos, S., additional

Published
2010
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35. Klinefelter's syndrome as a model of anomalous cerebral laterality: Testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray

Author

Geschwind, D.H., primary, Gregg, J., additional, Boone, K., additional, Karrim, J., additional, Pawlikowska-Haddal, Anna, additional, Rao, E., additional, Ellison, J., additional, Ciccodicola, A., additional, D'Urso, M., additional, Woods, R., additional, Rappold, G.A., additional, Swerdloff, R., additional, and Nelson, S.F., additional

Published
1998
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40. Evidence for linkage of a tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4) with attention deficit hyperactivity disorder (ADHD).

Author

McCracken, J.T., Smalley, S.L., McGough, J.J., Crawford, L., Del'Homme, M., Cantor, R.M., Liu, A., and Nelson, S.F.

Subjects
GENETIC polymorphisms, DOPAMINE, GENES
Abstract

Presents evidence for the linkage of a tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4) with attention deficit hyperactivity disorder (ADHD). Genetic contribution to the etiology of ADHD; Role of DRD4 variants for conferring the risks for ADHD; Implications for molecular psychiatry.

Published
2000
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41. Evidence that the dopamine D4 receptor is a susceptibility gene in attention deficit hyperactivity disorder.

Author

Smalley, S.L., Bailey, J.N., Palmer, C.G., Cantwell, D.P., McGough, J.J., Del'Homme, M.A., Asarnow, J.R., Woodward, J.A., Ramsey, C., and Nelson, S.F.

Subjects
ATTENTION-deficit hyperactivity disorder, DOPAMINE receptors
Abstract

Investigates the link between dopamine D4 receptor gene and attention deficit hyperactivity disorder in affected sibling pair families and singleton families. Use of transmission disequilibrium test and mean test of identity-by-descent sharing in comparing the study groups.

Published
1998
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42. Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia

Author

Jen, J.C., Yue, Q., Karrim, J., Baloh, R.W., and Nelson, S.F.

Abstract

The SCA6 mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported--namely, central positional nystagmus and episodic ataxia responsive to acetazolamide. The three allelic disorders, episodic ataxia type 2, familial hemiplegic migraine, and SCA6, have overlapping clinical features.

Published
1998

43. Observation of the fractional quantum Hall effect in Si/SiGe heterostructures.

Author

Nelson, S.F. and Ismail, K.

Subjects
*QUANTUM Hall effect, *HETEROSTRUCTURES, *ELECTRON transport
Abstract

Analyzes the fractional quantum Hall effect in silicon/silicon germanium (Si/SiGe) heterostructures. Details on the germanium content of the supply layers; Overview of the magnetotransport measurements of Si/SiGe heterostructures; Correlation of the density of dislocations with the mobility of electron in the Si channel.

Published
1992
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44. Systematics of electron mobility in Si/SiGe heterostructures.

Author

Nelson, S.F. and Ismail, K.

Subjects
*ELECTRON mobility, *HETEROSTRUCTURES, *CHEMICAL vapor deposition, *SURFACE roughness
Abstract

Investigates the electron mobility in modulation-doped silicon/silicon germanide heterostructures grown by vacuum chemical vapor deposition. Presence of interface roughness in samples; Correlation between the thickness of buffer layer and electron mobility; Impact of background impurities on electron mobility.

Published
1993
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45. Electron transport properties of Si/SiGe heterostructures: Measurements and device implications.

Author

Ismail, K. and Nelson, S.F.

Subjects
*ELECTRON transport, *HETEROSTRUCTURES, *SILICON
Abstract

Examines the significance of the electron transport properties of silicon (Si) and silicon germinide (SiGe) heterostructures. Occurrence of biaxial tensile strain following the growth of Si on relaxed SiGe; Influence of sheet resistance reduction on Si and SiGe structures; Effects of electron transport on the use of thin spaces in transistor application.

Published
1993
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46. Strain relaxation and mosaic structure in relaxed SiGe layers.

Author

Mooney, P.M., LeGoues, F.K., Chu, J.O., and Nelson, S.F.

Subjects
ALLOYS, RELAXATION phenomena, X-ray diffraction
Abstract

Examines strain relaxation and mosaic structure in relaxed silicon germanide (SiGe) alloy layers. Use of high-resolution x-ray diffraction in characterizing strained SiGe layers and superlattices; Determination of the importance of mosaic structure; Discussion on the effect of threading dislocations on the x-ray peak widths.

Published
1993
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