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1. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Author

Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien, Bruel, Ange-Line, Thauvin-Robinet, Christel, Popp, Denny, Platzer, Konrad, Gawlinski, Pawel, Wiszniewski, Wojciech, Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Gailus-Durner, Valerie, Guerrini, Renzo, Fuchs, Helmut, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, and Lupski, James R.

Published
2023
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2. Introduction

Author

Hunter, Jill and Kirkby, Diane

Published
2022

6. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Author

Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., and Lupski, James R.

Published
2021
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7. Postnatal Brain Trajectories and Maternal Intelligence Predict Childhood Outcomes in Complex CHD

Author

Lee, Vincent K., primary, Ceschin, Rafael, additional, Reynolds, William T., additional, Meyers, Benjamin, additional, Wallace, Julia, additional, Landsittel, Douglas, additional, Joseph, Heather M., additional, Badaly, Daryaneh, additional, Gaynor, J. William, additional, Licht, Daniel, additional, Greene, Nathaniel H., additional, Brady, Ken M., additional, Hunter, Jill V., additional, Chu, Zili D., additional, Wilde, Elisabeth A., additional, Easley, R. Blaine, additional, Andropoulos, Dean, additional, and Panigrahy, Ashok, additional

Published
2024
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10. Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease.

Author

Gerard, Amanda, Mizerik, Elizabeth, Mohila, Carrie A., AlAwami, Sarah, Hunter, Jill V., Kearney, Debra L., Lalani, Seema R., and Scaglia, Fernando

Abstract

PARS2 encodes an aminoacyl‐tRNA synthetase that catalyzes the ligation of proline to mitochondrial prolyl‐tRNA molecules. Diseases associated with PARS2 primarily affect the central nervous system, causing early infantile developmental epileptic encephalopathies (EIDEE; DEE75; MIM #618437) with infantile‐onset neurodegeneration. Dilated cardiomyopathy has also been reported in the affected individuals. About 10 individuals to date have been described with pathogenic biallelic variants in PARS2. While many of the reported individuals succumbed to the disease in the first two decades of life, autopsy findings have not yet been reported. Here, we describe neuropathological findings in a deceased male with evidence of intracranial calcifications in the basal ganglia, thalamus, cerebellum, and white matter, similar to Aicardi‐Goutières syndrome. This report describes detailed autopsy findings in a child with PARS2‐related mitochondrial disease and provides plausible evidence that intracranial calcifications may be a previously unrecognized feature of this disorder. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis.

Author

Parobek, Christian M., Zemet, Roni, Shanahan, Matthew A., Burnett, Brian A., Mizerik, Elizabeth, Rosenfeld, Jill A., Vossaert, Liesbeth, Clark, Steven L., Hunter, Jill V., and Lalani, Seema R.

Subjects
CEREBRAL anoxia-ischemia, GENETIC disorders, NEWBORN infants, NEONATAL death, GENETIC disorder diagnosis, NUCLEOTIDE sequencing
Abstract

Hypoxic–ischemic encephalopathy (HIE) occurs in up to 7 out of 1000 births and accounts for almost a quarter of neonatal deaths worldwide. Despite the name, many newborns with HIE have little evidence of perinatal hypoxia. We hypothesized that some infants with HIE have genetic disorders that resemble encephalopathy. We reviewed genetic results for newborns with HIE undergoing exome or genome sequencing at a clinical laboratory (2014–2022). Neonates were included if they had a diagnosis of HIE and were delivered ≥35 weeks. Neonates were excluded for cardiopulmonary pathology resulting in hypoxemia or if neuroimaging suggested postnatal hypoxic–ischemic injury. Of 24 patients meeting inclusion criteria, six (25%) were diagnosed with a genetic condition. Four neonates had variants at loci linked to conditions with phenotypic features resembling HIE, including KIF1A, GBE1, ACTA1, and a 15q13.3 deletion. Two additional neonates had variants in genes not previously associated with encephalopathy, including DUOX2 and PTPN11. Of the six neonates with a molecular diagnosis, two had isolated HIE without apparent comorbidities to suggest a genetic disorder. Genetic diagnoses were identified among neonates with and without sentinel labor events, abnormal umbilical cord gasses, and low Apgar scores. These results suggest that genetic evaluation is clinically relevant for patients with perinatal HIE. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder.

Author

Almannai, Mohammed, Marafi, Dana, Zaki, Maha S., Maroofian, Reza, Efthymiou, Stephanie, Saadi, Nebal Waill, Filimban, Bilal, Dafsari, Hormos Salimi, Rahman, Fatima, Maqbool, Shazia, Faqeih, Eissa, Al Mutairi, Fuad, Alsharhan, Hind, Abdelaty, Omar, Bin‐Hasan, Saadoun, Duan, Ruizhi, Noureldeen, Mahmoud M., Alqattan, Alaa, Houlden, Henry, and Hunter, Jill V.

Subjects
NEURAL development, PHENOTYPES, DEVELOPMENTAL delay, INTELLECTUAL disabilities, BRAIN imaging
Abstract

PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of individuals with available brain imaging include delays in myelination, wavy outline of the bodies of the lateral ventricles, and slight prominence of the bodies of the lateral ventricles. PPP1R21‐related neurodevelopmental disorder is associated with a consistent phenotype and should be considered in highly consanguineous individuals presenting with developmental delay/intellectual disability along with coarse facial features. [ABSTRACT FROM AUTHOR]

Published
2024
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15. One month in: the Israel-Hamas war explained - The Murray State News

Author

Hunter, Jill SmithBri

Subjects
Israel-Hamas War, 2023- -- Military aspects, Palestinian Arabs -- Military aspects, News, opinion and commentary, Sports and fitness, United Nations, Hamas
Abstract

Byline: Jill SmithBri Hunter content'class='sno-story-body-content sno-no-cap'> Courtesy of Wikimedia Palestinians inspect the damage following an Israeli airstrike in Gaza City on Oct. 9, 2023. *Editors' note: this article discusses sensitive [...]

Published
2024

18. Postnatal Brain Magnetic Resonance Imaging Trajectories and Maternal Intelligence Predict Neurodevelopmental Outcomes in Complex Congenital Heart Disease

Author

Lee, Vincent K, primary, Ceschin, Rafael, additional, Reynolds, William T, additional, Meyers, Benjamin, additional, Wallace, Julia, additional, Landsittel, Douglas, additional, Joseph, Healther M, additional, Badaly, Daryaneh, additional, Gaynor, J William, additional, Licht, Daniel, additional, Greene, Nathaniel H, additional, Brady, Ken M, additional, Hunter, Jill V, additional, Chu, Zili D, additional, Wilde, Elisabeth A, additional, Easley, R Blaine, additional, Andropoulos, Dean, additional, and Panigrahy, Ashok, additional

Published
2023
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19. c‐Rel–dependent Chk2 signaling regulates the DNA damage response limiting hepatocarcinogenesis

Author

Leslie, Jack, primary, Hunter, Jill E., additional, Collins, Amy, additional, Rushton, Amelia, additional, Russell, Lauren G., additional, Ramon‐Gil, Erik, additional, Laszczewska, Maja, additional, McCain, Misti, additional, Zaki, Marco Y. W., additional, Knox, Amber, additional, Seow, Yixin, additional, Sabater, Laura, additional, Geh, Daniel, additional, Perkins, Neil D., additional, Reeves, Helen L., additional, Tiniakos, Dina, additional, Mann, Derek A., additional, and Oakley, Fiona, additional

Published
2023
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20. Expression and Activity of the NF-κB Subunits in Chronic Lymphocytic Leukaemia: A Role for RelB and Non-Canonical Signalling

Author

Mulligan, Evan A., primary, Tudhope, Susan J., additional, Hunter, Jill E., additional, Clift, Arabella E. G., additional, Elliott, Sarah L., additional, Summerfield, Geoffrey P., additional, Wallis, Jonathan, additional, Pepper, Chris J., additional, Durkacz, Barabara, additional, Veuger, Stephany, additional, and Willmore, Elaine, additional

Published
2023
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21. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking

Author

Duan, Ruizhi, primary, Marafi, Dana, additional, Xia, Zhi‐Jie, additional, Ng, Bobby G., additional, Maroofian, Reza, additional, Sumya, Farhana Taher, additional, Saad, Ahmed K., additional, Du, Haowei, additional, Fatih, Jawid M., additional, Hunter, Jill V., additional, Elbendary, Hasnaa M., additional, Baig, Shahid M., additional, Abdullah, Uzma, additional, Ali, Zafar, additional, Efthymiou, Stephanie, additional, Murphy, David, additional, Mitani, Tadahiro, additional, Withers, Marjorie A., additional, Jhangiani, Shalini N., additional, Coban‐Akdemir, Zeynep, additional, Calame, Daniel G., additional, Pehlivan, Davut, additional, Gibbs, Richard A., additional, Posey, Jennifer E., additional, Houlden, Henry, additional, Lupashin, Vladimir V., additional, Zaki, Maha S., additional, Freeze, Hudson H., additional, and Lupski, James R., additional

Published
2023
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22. One month in: the Israel-Hamas war explained - The Murray State News

Author

Hunter, Jill SmithBri

Subjects
Israel-Hamas War, 2023- -- Military aspects, Palestinian Arabs -- Military aspects, News, opinion and commentary, Sports and fitness, United Nations, Hamas
Abstract

Byline: Jill SmithBri Hunter content'class='sno-story-body-content sno-no-cap'> Courtesy of Wikimedia Palestinians inspect the damage following an Israeli airstrike in Gaza City on Oct. 9, 2023. *Editors' note: this article discusses sensitive [...]

Published
2023

25. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

Author

Dawood, Moez, primary, Akay, Gulsen, additional, Mitani, Tadahiro, additional, Marafi, Dana, additional, Fatih, Jawid M., additional, Gezdirici, Alper, additional, Najmabadi, Hossein, additional, Kahrizi, Kimia, additional, Punetha, Jaya, additional, Grochowski, Christopher M., additional, Du, Haowei, additional, Jolly, Angad, additional, Li, He, additional, Coban‐Akdemir, Zeynep, additional, Sedlazeck, Fritz J., additional, Hunter, Jill V., additional, Jhangiani, Shalini N., additional, Muzny, Donna, additional, Pehlivan, Davut, additional, Posey, Jennifer E., additional, Carvalho, Claudia M. B., additional, Gibbs, Richard A., additional, and Lupski, James R., additional

Published
2023
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26. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Author

Hijazi, Hadia, primary, Reis, Linda M., additional, Pehlivan, Davut, additional, Bernstein, Jonathan A., additional, Muriello, Michael, additional, Syverson, Erin, additional, Bonner, Devon, additional, Estiar, Mehrdad A., additional, Gan-Or, Ziv, additional, Rouleau, Guy A., additional, Lyulcheva, Ekaterina, additional, Greenhalgh, Lynn, additional, Tessarech, Marine, additional, Colin, Estelle, additional, Guichet, Agnès, additional, Bonneau, Dominique, additional, van Jaarsveld, R.H., additional, Lachmeijer, A.M.A., additional, Ruaud, Lyse, additional, Levy, Jonathan, additional, Tabet, Anne-Claude, additional, Ploski, Rafal, additional, Rydzanicz, Małgorzata, additional, Kępczyński, Łukasz, additional, Połatyńska, Katarzyna, additional, Li, Yidan, additional, Fatih, Jawid M., additional, Marafi, Dana, additional, Rosenfeld, Jill A., additional, Coban-Akdemir, Zeynep, additional, Bi, Weimin, additional, Gibbs, Richard A., additional, Hobson, Grace M., additional, Hunter, Jill V., additional, Carvalho, Claudia M.B., additional, Posey, Jennifer E., additional, Semina, Elena V., additional, and Lupski, James R., additional

Published
2022
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29. Mutation of the RelA(p65) Thr505 phosphosite disrupts the DNA replication stress response leading to CHK1 inhibitor resistance

Author

Hunter, Jill E., primary, Campbell, Amy E., additional, Butterworth, Jacqueline A., additional, Sellier, Helene, additional, Hannaway, Nicola L., additional, Luli, Saimir, additional, Floudas, Achilleas, additional, Kenneth, Niall S., additional, Moore, Adam J., additional, Brownridge, Philip J., additional, Thomas, Huw D., additional, Coxhead, Jonathan, additional, Taylor, Leigh, additional, Leary, Peter, additional, Hasoon, Megan S.R., additional, Knight, Andrew M., additional, Garrett, Michelle D., additional, Collins, Ian, additional, Eyers, Claire E., additional, and Perkins, Neil D., additional

Published
2022
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30. Regulation of CHK1 inhibitor resistance by a c-Rel and USP1 dependent pathway

Author

Hunter, Jill E., primary, Campbell, Amy E., additional, Hannaway, Nicola L., additional, Kerridge, Scott, additional, Luli, Saimir, additional, Butterworth, Jacqueline A., additional, Sellier, Helene, additional, Mukherjee, Reshmi, additional, Dhillon, Nikita, additional, Sudhindar, Praveen D., additional, Shukla, Ruchi, additional, Brownridge, Philip J., additional, Bell, Hayden L., additional, Coxhead, Jonathan, additional, Taylor, Leigh, additional, Leary, Peter, additional, Hasoon, Megan S.R., additional, Collins, Ian, additional, Garrett, Michelle D., additional, Eyers, Claire E., additional, and Perkins, Neil D., additional

Published
2022
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31. Up-regulation of the PI3K/AKT and RHO/RAC/PAK signalling pathways in CHK1 inhibitor resistant Eµ-Myc lymphoma cells

Author

Hunter, Jill E., primary, Campbell, Amy E., additional, Kerridge, Scott, additional, Fraser, Callum, additional, Hannaway, Nicola L., additional, Luli, Saimir, additional, Ivanova, Iglika, additional, Brownridge, Philip J., additional, Coxhead, Jonathan, additional, Taylor, Leigh, additional, Leary, Peter, additional, Hasoon, Megan S. R., additional, Eyers, Claire E., additional, and Perkins, Neil D., additional

Published
2022
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32. Claspin haploinsufficiency leads to defects in fertility, hyperplasia and an increased oncogenic potential

Author

Madgwick, Suzanne, primary, Luli, Saimir, additional, Sellier, Helene, additional, Butterworth, Jacqueline A., additional, Leslie, Jack, additional, Moore, Adam J., additional, Corbin, Emma K., additional, Yemm, Adrian I., additional, Chiremba, Robson T., additional, Tiniakos, Dina, additional, Oakley, Fiona, additional, Perkins, Neil D., additional, and Hunter, Jill E., additional

Published
2022
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33. Harmonization of multi-center diffusion tensor tractography in neonates with congenital heart disease: Optimizing post-processing and application of ComBat

Author

Meyers, Benjamin, primary, Lee, Vincent K., additional, Dennis, Lauren, additional, Wallace, Julia, additional, Schmithorst, Vanessa, additional, Votava-Smith, Jodie K., additional, Rajagopalan, Vidya, additional, Herrup, Elizabeth, additional, Baust, Tracy, additional, Tran, Nhu N., additional, Hunter, Jill V., additional, Licht, Daniel J., additional, Gaynor, J. William, additional, Andropoulos, Dean B., additional, Panigrahy, Ashok, additional, and Ceschin, Rafael, additional

Published
2022
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34. Management of Extensive Central Nervous System Cladophialophora bantiana Infection in a 9-Year-Old Child

Author

Boguniewicz, Juri, primary, Demmler-Harrison, Gail J., additional, Lotze, Timothy E., additional, Jarjour, Imad T., additional, Whitehead, William E., additional, Frontiero, Jessica, additional, Dutta, Ankhi, additional, Fogarty, Thomas, additional, Hunter, Jill V., additional, Ogunbona, Oluwaseun B., additional, Pareek, Aishwarya V., additional, and Cameron, Lindsay H., additional

Published
2022
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36. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Author

Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Hijazi, Hadia, Reis, Linda M, Pehlivan, Davut, Bernstein, Jonathan A, Muriello, Michael, Syverson, Erin, Bonner, Devon, Estiar, Mehrdad A, Gan-Or, Ziv, Rouleau, Guy A, Lyulcheva, Ekaterina, Greenhalgh, Lynn, Tessarech, Marine, Colin, Estelle, Guichet, Agnès, Bonneau, Dominique, van Jaarsveld, R H, Lachmeijer, A M A, Ruaud, Lyse, Levy, Jonathan, Tabet, Anne-Claude, Ploski, Rafal, Rydzanicz, Małgorzata, Kępczyński, Łukasz, Połatyńska, Katarzyna, Li, Yidan, Fatih, Jawid M, Marafi, Dana, Rosenfeld, Jill A, Coban-Akdemir, Zeynep, Bi, Weimin, Gibbs, Richard A, Hobson, Grace M, Hunter, Jill V, Carvalho, Claudia M B, Posey, Jennifer E, Semina, Elena V, Lupski, James R, Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Hijazi, Hadia, Reis, Linda M, Pehlivan, Davut, Bernstein, Jonathan A, Muriello, Michael, Syverson, Erin, Bonner, Devon, Estiar, Mehrdad A, Gan-Or, Ziv, Rouleau, Guy A, Lyulcheva, Ekaterina, Greenhalgh, Lynn, Tessarech, Marine, Colin, Estelle, Guichet, Agnès, Bonneau, Dominique, van Jaarsveld, R H, Lachmeijer, A M A, Ruaud, Lyse, Levy, Jonathan, Tabet, Anne-Claude, Ploski, Rafal, Rydzanicz, Małgorzata, Kępczyński, Łukasz, Połatyńska, Katarzyna, Li, Yidan, Fatih, Jawid M, Marafi, Dana, Rosenfeld, Jill A, Coban-Akdemir, Zeynep, Bi, Weimin, Gibbs, Richard A, Hobson, Grace M, Hunter, Jill V, Carvalho, Claudia M B, Posey, Jennifer E, Semina, Elena V, and Lupski, James R

Published
2022

37. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Author

Calame, Daniel G., primary, Herman, Isabella, additional, Maroofian, Reza, additional, Marshall, Aren E., additional, Donis, Karina Carvalho, additional, Fatih, Jawid M., additional, Mitani, Tadahiro, additional, Du, Haowei, additional, Grochowski, Christopher M., additional, Sousa, Sergio B., additional, Gijavanekar, Charul, additional, Bakhtiari, Somayeh, additional, Ito, Yoko A., additional, Rocca, Clarissa, additional, Hunter, Jill V., additional, Sutton, V. Reid, additional, Emrick, Lisa T., additional, Boycott, Kym M., additional, Lossos, Alexander, additional, Fellig, Yakov, additional, Prus, Eugenia, additional, Kalish, Yosef, additional, Meiner, Vardiella, additional, Suerink, Manon, additional, Ruivenkamp, Claudia, additional, Muirhead, Kayla, additional, Saadi, Nebal W., additional, Zaki, Maha S., additional, Bouman, Arjan, additional, Barakat, Tahsin Stefan, additional, Skidmore, David L., additional, Osmond, Matthew, additional, Silva, Thiago Oliveira, additional, Murphy, David, additional, Karimiani, Ehsan Ghayoor, additional, Jamshidi, Yalda, additional, Jaddoa, Asaad Ghanim, additional, Tajsharghi, Homa, additional, Jin, Sheng Chih, additional, Abbaszadegan, Mohammad Reza, additional, Ebrahimzadeh‐Vesal, Reza, additional, Hosseini, Susan, additional, Alavi, Shahryar, additional, Bahreini, Amir, additional, Zarean, Elahe, additional, Salehi, Mohammad Mehdi, additional, Al‐Sannaa, Nouriya Abbas, additional, Zifarelli, Giovanni, additional, Bauer, Peter, additional, Robson, Simon C., additional, Coban‐Akdemir, Zeynep, additional, Travaglini, Lorena, additional, Nicita, Francesco, additional, Jhangiani, Shalini N., additional, Gibbs, Richard A., additional, Posey, Jennifer E., additional, Kruer, Michael C., additional, Kernohan, Kristin D., additional, Morales Saute, Jonas A., additional, Houlden, Henry, additional, Vanderver, Adeline, additional, Elsea, Sarah H., additional, Pehlivan, Davut, additional, Marafi, Dana, additional, and Lupski, James R., additional

Published
2022
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38. El‐Hattab‐Alkuraya syndrome caused by biallelicWDR45Bpathogenic variants: Further delineation of the phenotype and genotype

Author

Almannai, Mohammed, primary, Marafi, Dana, additional, Abdel‐Salam, Ghada M. H., additional, Zaki, Maha S., additional, Duan, Ruizhi, additional, Calame, Daniel, additional, Herman, Isabella, additional, Levesque, Felix, additional, Elbendary, Hasnaa M., additional, Hegazy, Ibrahim, additional, Chung, Wendy K., additional, Kavus, Haluk, additional, Saeidi, Kolsoum, additional, Maroofian, Reza, additional, AlHashim, Aqeela, additional, Al‐Otaibi, Ali, additional, Al Madhi, Asma, additional, Abou Al‐Seood, Hager M., additional, Alasmari, Ali, additional, Houlden, Henry, additional, Gleeson, Joseph G., additional, Hunter, Jill V., additional, Posey, Jennifer E., additional, Lupski, James R., additional, and El‐Hattab, Ayman W., additional

Published
2022
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39. A Preliminary DTI Tractography Study of Developmental Neuroplasticity 5–15 Years After Early Childhood Traumatic Brain Injury

Author

Wilde, Elisabeth A., primary, Hyseni, Ilirjana, additional, Lindsey, Hannah M., additional, Faber, Jessica, additional, McHenry, James M., additional, Bigler, Erin D., additional, Biekman, Brian D., additional, Hollowell, Laura L., additional, McCauley, Stephen R., additional, Hunter, Jill V., additional, Ewing-Cobbs, Linda, additional, Aitken, Mary E., additional, MacLeod, Marianne, additional, Chu, Zili D., additional, Noble-Haeusslein, Linda J., additional, and Levin, Harvey S., additional

Published
2021
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41. Biallelic loss-of-function variants in the splicing regulator NSRP1cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

Author

Calame, Daniel G., Bakhtiari, Somayeh, Logan, Rachel, Coban-Akdemir, Zeynep, Du, Haowei, Mitani, Tadahiro, Fatih, Jawid M., Hunter, Jill V., Herman, Isabella, Pehlivan, Davut, Jhangiani, Shalini N., Person, Richard, Schnur, Rhonda E., Jin, Sheng Chih, Bilguvar, Kaya, Posey, Jennifer E., Koh, Sookyong, Firouzabadi, Saghar G., Alehabib, Elham, Tafakhori, Abbas, Esmkhani, Sahra, Gibbs, Richard A., Noureldeen, Mahmoud M., Zaki, Maha S., Marafi, Dana, Darvish, Hossein, Kruer, Michael C., and Lupski, James R.

Abstract

Alternative splicing plays a critical role in mouse neurodevelopment, regulating neurogenesis, cortical lamination, and synaptogenesis, yet few human neurodevelopmental disorders are known to result from pathogenic variation in splicing regulator genes. Nuclear Speckle Splicing Regulator Protein 1 (NSRP1) is a ubiquitously expressed splicing regulator not known to underlie a Mendelian disorder.

Published
2021
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43. Bannwarth Syndrome

Author

Dutta, Ankhi, Hunter, Jill V., and Vallejo, Jesus G.

Abstract

Lymphocytic meningoradiculitis (Bannwarth syndrome) is a rare manifestation of Lyme neuroborreliosis in children. It is the most common clinical manifestation of early Lyme neuroborreliosis in adults in European countries where the disease is endemic but is rare in children. We report an imported case of Bannwarth syndrome in a pediatric patient and review the literature for other pediatric cases reported.

Published
2021
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44. Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.

Author

Kho J, Polak U, Jiang MM, Odom JD, Hunter JV, Ali SM, Burrage LC, Nagamani SC, Pautler RG, Thompson HP, Urayama A, Jin Z, and Lee B

Subjects
Mice, Animals, Humans, Nitric Oxide metabolism, Blood-Brain Barrier metabolism, Endothelial Cells metabolism, Claudins metabolism, Disease Models, Animal, Argininosuccinic Aciduria genetics, Argininosuccinic Aciduria metabolism, Argininosuccinic Aciduria pathology
Abstract

Nitric oxide (NO) is a critical signaling molecule that has been implicated in the pathogenesis of neurocognitive diseases. Both excessive and insufficient NO production have been linked to pathology. Previously, we have shown that argininosuccinate lyase deficiency (ASLD) is a novel model system to investigate cell-autonomous, nitric oxide synthase-dependent NO deficiency. Humans with ASLD are at increased risk for developing hyperammonemia due to a block in ureagenesis. However, natural history studies have shown that individuals with ASLD have multisystem disease including neurocognitive deficits that can be independent of ammonia. Here, using ASLD as a model of NO deficiency, we investigated the effects of NO on brain endothelial cells in vitro and the blood-brain barrier (BBB) in vivo. Knockdown of ASL in human brain microvascular endothelial cells (HBMECs) led to decreased transendothelial electrical resistance, indicative of increased cell permeability. Mechanistically, treatment with an NO donor or inhibition of Claudin-1 improved barrier integrity in ASL-deficient HBMECs. Furthermore, in vivo assessment of a hypomorphic mouse model of ASLD showed increased BBB leakage, which was partially rescued by NO supplementation. Our results suggest that ASL-mediated NO synthesis is required for proper maintenance of brain microvascular endothelial cell functions as well as BBB integrity.

Published
2023
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45. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Author

Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, and El-Hattab AW

Subjects
Atrophy, Bone Diseases, Metabolic, Congenital Disorders of Glycosylation, Homozygote, Humans, Pedigree, Phenotype, Quadriplegia genetics, Seizures diagnostic imaging, Seizures genetics, Microcephaly diagnostic imaging, Microcephaly genetics, Microcephaly pathology, Nervous System Malformations
Abstract

Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report in 2018, no further cases have been described. In this report, we present 12 additional individuals from seven unrelated families and their clinical, radiological, and molecular findings. Six different variants in WDR45B were identified, five of which are novel. Microcephaly and global developmental delay were observed in all subjects, and seizures and spastic quadriplegia in most. Common findings on brain imaging include cerebral atrophy, ex vacuo ventricular dilatation, brainstem volume loss, and symmetric under-opercularization. El-Hattab-Alkuraya syndrome is associated with a consistent phenotype characterized by early onset cerebral atrophy resulting in microcephaly, developmental delay, spastic quadriplegia, and seizures. The phenotype appears to be more severe among individuals with loss-of-function variants whereas those with missense variants were less severely affected suggesting a potential genotype-phenotype correlation in this disorder. A brain imaging pattern emerges which is consistent among individuals with loss-of-function variants and could potentially alert the neuroradiologists or clinician to consider WDR45B-related El-Hattab-Alkuraya syndrome., (© 2022 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.)

Published
2022
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46. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Author

Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, and Lupski JR

Subjects
Glutamine metabolism, Histidine metabolism, Humans, Metabolome, Nitrogen metabolism, Epilepsy, Generalized diagnosis, Epilepsy, Generalized genetics, Sodium-Calcium Exchanger genetics
Abstract

The solute carrier (SLC) superfamily encompasses >400 transmembrane transporters involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and metabolites across biological membranes. SLCs are highly expressed in the mammalian brain; defects in nearly 100 unique SLC-encoding genes (OMIM: https://www.omim.org) are associated with rare Mendelian disorders including developmental and epileptic encephalopathy and severe neurodevelopmental disorders. Exome sequencing and family-based rare variant analyses on a cohort with neurodevelopmental disorders identified two siblings with developmental and epileptic encephalopathy and a shared deleterious homozygous splicing variant in SLC38A3. The gene encodes SNAT3, a sodium-coupled neutral amino acid transporter and a principal transporter of the amino acids asparagine, histidine, and glutamine, the latter being the precursor for the neurotransmitters GABA and glutamate. Additional subjects with a similar developmental and epileptic encephalopathy phenotype and biallelic predicted-damaging SLC38A3 variants were ascertained through GeneMatcher and collaborations with research and clinical molecular diagnostic laboratories. Untargeted metabolomic analysis was performed to identify novel metabolic biomarkers. Ten individuals from seven unrelated families from six different countries with deleterious biallelic variants in SLC38A3 were identified. Global developmental delay, intellectual disability, hypotonia, and absent speech were common features while microcephaly, epilepsy, and visual impairment were present in the majority. Epilepsy was drug-resistant in half. Metabolomic analysis revealed perturbations of glutamate, histidine, and nitrogen metabolism in plasma, urine, and CSF of selected subjects, potentially representing biomarkers of disease. Our data support the contention that SLC38A3 is a novel disease gene for developmental and epileptic encephalopathy and illuminate the likely pathophysiology of the disease as perturbations in glutamine homeostasis., (© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Published
2022
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