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Your search keyword '"Landsverk, Megan L."' showing total 28 results
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28 results on '"Landsverk, Megan L."'

1. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

Author

Sun, Chong, Song, Jie, Jiang, Yanjun, Zhao, Chongbo, Lu, Jiahong, Li, Yuxin, Wang, Yin, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Li, Meixia, Donaldson, Kevin, Oprescu, Stephanie N., Slavin, Thomas P., Lee, Sansan, Magoulas, Pilar L., Lewis, Andrea M., Emrick, Lisa, Lalani, Seema R., Niu, Zhiyv, Landsverk, Megan L., Walkiewicz, Magdalena, Person, Richard E., Mei, Hui, Rosenfeld, Jill A., Yang, Yaping, Antonellis, Anthony, Hou, Ya-Ming, Lin, Jie, and Zhang, Victor W.

Published
2019
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9. Clinical delineation of the PACS1-related syndrome—Report on 19 patients

Author

Schuurs-Hoeijmakers, Janneke H. M., Landsverk, Megan L., Foulds, Nicola, Kukolich, Mary K., Gavrilova, Ralitza H., Greville-Heygate, Stephanie, Hanson-Kahn, Andrea, Bernstein, Jonathan A., Glass, Jennifer, Chitayat, David, Burrow, Thomas A., Husami, Ammar, Collins, Kathleen, Wusik, Katie, van der Aa, Nathalie, Kooy, Frank, Brown, Kate Tatton, Gadzicki, Dorothea, Kini, Usha, Alvarez, Sara, Fernández-Jaén, Alberto, McGehee, Frank, Selby, Katherine, Tarailo-Graovac, Maja, Van Allen, Margot, van Karnebeek, Clara D. M., Stavropoulos, Dimitri J., Marshall, Christian R., Merico, Daniele, Gregor, Anne, Zweier, Christiane, Hopkin, Robert J., Chu, Yoyo Wing-Yiu, Chung, Brian Hon-Yin, de Vries, Bert B. A., Devriendt, Koenraad, Hurles, Matthew E., and Brunner, Han G.

Published
2016
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12. UNC-98 links an integrin-associated complex to thick filaments in Caenorhabditis elegans muscle

Author

Miller, Rachel K., Qadota, Hiroshi, Landsverk, Megan L., Mercer, Kristina B., Epstein, Henry F., and Benian, Guy M.

Subjects
Caenorhabditis elegans -- Structure, Caenorhabditis elegans -- Physiological aspects, Myosin -- Research, Bacterial proteins -- Research, Biological sciences
Abstract

Focal adhesions are multiprotein assemblages that link cells to the extracellular matrix. The transmembrane protein, integrin, is a key component of these structures. In vertebrate muscle, focal adhesion-like structures called costameres attach myofibrils at the periphery of muscle cells to the cell membrane. In Caenorhabditis elegans muscle, all the myofibrils are attached to the cell membrane at both dense bodies (Z-disks) and M-lines. Clustered at the base of dense bodies and M-lines, and associated with the cytoplasmic tail of [beta]-integrin, is a complex of many proteins, including UNC-97 (vertebrate PINCH). Previously, we showed that UNC-97 interacts with UNC-98, a 37-kD protein, containing four C2H2 Zn fingers, that localizes to M-lines. We report that UNC-98 also interacts with the C-terminal portion of a myosin heavy chain. Multiple lines of evidence support a model in which UNC-98 links integrin-associated proteins to myosin in thick filaments at M-lines.

Published
2006

15. Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy

Author

Landsverk, Megan L., Ruzzo, Elizabeth K., Mefford, Heather C., Buysse, Karen, Buchan, Jillian G., Eichler, Evan E., Petty, Elizabeth M., Peterson, Esther A., Knutzen, Dana M., Barnett, Karen, Farlow, Martin R., Caress, Judy, Parry, Gareth J., Quan, Dianna, Gardner, Kathy L., Hong, Ming, Simmons, Zachary, Bird, Thomas D., Chance, Phillip F., and Hannibal, Mark C.

Published
2009

16. Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Author

Patrick, Ryan J., Weimer, Jill, Davis-Keppen, Laura, and Landsverk, Megan L.

Subjects
RARE diseases, MICROCEPHALY, DNA sequencing, INTELLECTUAL disabilities, MISSENSE mutation
Abstract

Pathogenic variants in CKAP2L have previously been reported in Filippi syndrome (FS), a rare autosomal recessive, craniodigital syndrome characterized by microcephaly, syndactyly, short stature, intellectual disability, and dysmorphic facial features. To date, fewer than 10 patients with pathogenic variants in CKAP2L associated with FS have been reported. All of the previously reported probands have presumed loss-of-function variants (frameshift, canonical splice site, starting methionine), and all but one have been homozygous for a pathogenic variant. Here we describe two brothers who presented with microcephaly, micrognathia, syndactyly, dysmorphic features, and intellectual disability. Whole-exome sequencing of the family identified a missense variant, c.2066G > A;p.(Arg689His), in trans with a frameshift variant, c.1169_1173del;p.(Ile390LysfsTer4), in CKAP2L. To our knowledge, these are the first patients with FS to be reported with a missense variant in CKAP2L and only the second family to be reported with two variants in trans. [ABSTRACT FROM AUTHOR]

Published
2022
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17. Delivering Precision Oncology in a Community Cancer Program: Results From a Prospective Observational Study

Author

Powell, Steven F., primary, Dib, Elie G., additional, Bleeker, Jonathan S., additional, Keppen, Michael D., additional, Mazurczak, Miroslaw, additional, Hack, Keely M., additional, Gitau, Mark M., additional, Steen, Preston D., additional, Terstriep, Shelby A., additional, Reynolds, John, additional, Landsverk, Megan L., additional, Chan, Chun-Hung, additional, Nelson, Morgan E., additional, Thompson, Paul A., additional, Ellison, Christie, additional, Black, Lora J., additional, Ford, James M., additional, Chung, Jon H., additional, Anhorn, Rachel, additional, and Gaba, Anu G., additional

Published
2018
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19. Optimizing Genotype Matched Clinical Trial (GMCT) accrual in a community oncology program (COP).

Author

Powell, Steven Francis, primary, Dib, Elie G., additional, Bleeker, Jonathan Scott, additional, Keppen, Michael D., additional, Mazurczak, Miroslaw, additional, Hack, Keely Marie, additional, Gitau, Mark Mutuota, additional, Steen, Preston D., additional, Terstriep, Shelby A., additional, Reynolds, John, additional, Nair, Jayan, additional, Landsverk, Megan L, additional, Chan, Chun-Hung, additional, Thompson, Paul A., additional, Ellison, Christie, additional, Black, Lora Jane, additional, Ford, James M., additional, and Gaba, Anu G., additional

Published
2016
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20. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

Author

Salih, Mustafa A., primary, Seidahmed, Mohammed Z., additional, El Khashab, Heba Y., additional, Hamad, Muddathir H. A., additional, Bosley, Thomas M., additional, Burn, Sabrina, additional, Myers, Angela, additional, Landsverk, Megan L., additional, Crotwell, Patricia L., additional, Bilguvar, Kaya, additional, Mane, Shrikant, additional, and Kruer, Michael C., additional

Published
2015
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28. Sequence analysis of the whole mitochondrial genome and nuclear genes causing mitochondrial disorders.

Author

Landsverk ML, Cornwell ME, and Palculict ME

Subjects
DNA, Mitochondrial genetics, DNA, Mitochondrial isolation & purification, Electrophoresis, Agar Gel, Humans, Polymerase Chain Reaction, Repetitive Sequences, Nucleic Acid, Cell Nucleus genetics, Genome, Mitochondrial genetics, Mitochondrial Diseases genetics, Sequence Analysis, DNA methods
Abstract

The diagnosis of mitochondrial disorders has increased considerably over the past few years. However, the genetics are complex, as the causative mutations can be in either the mitochondrial or the nuclear genome. Identification of the molecular defects in the causative genes is the key to a definitive diagnosis of the disease. Here, we describe PCR-based sequence analysis of the entire mitochondrial genome and a group of nuclear genes known to cause mitochondrial disorders.

Published
2012
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