PMC Articles for MedGen (Select 482696) - PMC

Select item 99418341.

Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model

Yi Qiu, Rosan Kenana, Aruun Beharry, Sarah D P Wilhelm, Sung Yuan Hsu, Victoria M Siu, Martin Duennwald, Ilka U Heinemann

Hum Mol Genet. 2023 Mar 1; 32(5): 810–824. Published online 2022 Sep 26. doi: 10.1093/hmg/ddac239

PMCID:: PMC9941834

Article PDF–2.3M

Select item 96775092.

The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity

Jamie A. Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M. Siu, C. Anthony Rupar, Borries Demeler, Christopher S. Francklyn, Susan M. Robey-Bond

Biochemistry. Author manuscript; available in PMC 2022 Nov 21.

Published in final edited form as: Biochemistry. 2017 Jul 18; 56(28): 3619–3631. Published online 2017 Jul 7. doi: 10.1021/acs.biochem.7b00114

PMCID:: PMC9677509

Article PDF–1.9M

Select item 62442113.

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

Carla Fuster-García, Gema García-García, Teresa Jaijo, Neus Fornés, Carmen Ayuso, Miguel Fernández-Burriel, Ana Sánchez-De la Morena, Elena Aller, José M. Millán

Sci Rep. 2018; 8: 17113. Published online 2018 Nov 20. doi: 10.1038/s41598-018-35085-0

PMCID:: PMC6244211

Article PDF–4.1M

Select item 56881494.

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

Chiara M. Eandi, Laura Dallorto, Roberta Spinetta, Maria Pia Micieli, Mario Vanzetti, Alessandro Mariottini, Ilaria Passerini, Francesca Torricelli, Camilla Alovisi, Cristiana Marchese

Sci Rep. 2017; 7: 15681. Published online 2017 Nov 15. doi: 10.1038/s41598-017-16014-z

PMCID:: PMC5688149

Article PDF–1.7M

Select item 56083755.

A single Danio rerio hars gene encodes both cytoplasmic and mitochondrial histidyl-tRNA synthetases

Ashley L. Waldron, Sara Helms Cahan, Christopher S. Franklyn, Alicia M. Ebert

PLoS One. 2017; 12(9): e0185317. Published online 2017 Sep 21. doi: 10.1371/journal.pone.0185317

Correction in:: PLoS One. 2018; 13(1): e0190757.

PMCID:: PMC5608375

Article PDF–6.1M

Select item 42457696.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

María J Aparisi, Elena Aller, Carla Fuster-García, Gema García-García, Regina Rodrigo, Rafael P Vázquez-Manrique, Fiona Blanco-Kelly, Carmen Ayuso, Anne-Françoise Roux, Teresa Jaijo, José M Millán

Orphanet J Rare Dis. 2014; 9: 168. Published online 2014 Nov 18. doi: 10.1186/s13023-014-0168-7

PMCID:: PMC4245769

Article PDF–605K

Select item 40428917.

Transfer RNA and human disease

Jamie A. Abbott, Christopher S. Francklyn, Susan M. Robey-Bond

Front Genet. 2014; 5: 158. Published online 2014 Jun 3. doi: 10.3389/fgene.2014.00158

PMCID:: PMC4042891

Article PDF–2.8M

Select item 32601538.

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassidy, Christopher J. Fiorentini, Kory F. Heiken, Johnny J. Lawrence, Molly H. Mahoney, Christopher J. Miller, Devika T. Nair, Kristin A. Politi, Kimberly N. Worcester, Roni A. Setton, Rosa DiPiazza, Eric A. Sherman, James T. Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L. Rider, Stacey Gabriel, D. Holmes Morton, Kevin A. Strauss

PLoS One. 2012; 7(1): e28936. Published online 2012 Jan 17. doi: 10.1371/journal.pone.0028936

PMCID:: PMC3260153

Article PDF–6.2M

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