PMC Articles for MedGen (Select 816083) - PMC

Select item 88894371.

Thyroid hormone regulates glutamine metabolism and anaplerotic fluxes by inducing mitochondrial glutamate aminotransferase GPT2

Annunziata Gaetana Cicatiello, Serena Sagliocchi, Annarita Nappi, Emery Di Cicco, Caterina Miro, Melania Murolo, Mariano Stornaiuolo, Monica Dentice

Cell Rep. 2022 Feb 22; 38(8): 110409. Published online 2022 Feb 22. doi: 10.1016/j.celrep.2022.110409

Correction in:: Cell Rep. 2022 Mar 22; 38(12): 110562.

PMCID:: PMC8889437

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Select item 88867622.

Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report

Anton Karabinos, Michaela Hyblova, Miroslava Eckertova, Erika Tomkova, Drahomira Schwartzova, Nikoleta Luckanicova, Gabriela Magyarova, Gabriel Minarik

J Med Case Rep. 2022; 16: 98. Published online 2022 Feb 28. doi: 10.1186/s13256-022-03291-0

PMCID:: PMC8886762

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Select item 61465083.

From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay

Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Jean Mathieu

Orphanet J Rare Dis. 2018; 13: 165. Published online 2018 Sep 19. doi: 10.1186/s13023-018-0898-z

PMCID:: PMC6146508

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Select item 59674074.

Putative Digenic Inheritance of Heterozygous RP1L1 and C2orf71 Null Mutations in Syndromic Retinal Dystrophy

Yangfan P. Liu, Daniëlle G.M. Bosch, Anna M. Siemiatkowska, Nanna Dahl Rendtorff, F. Nienke Boonstra, Claes Möller, Lisbeth Tranebjærg, Nicholas Katsanis, Frans P.M. Cremers

Ophthalmic Genet. Author manuscript; available in PMC 2018 May 24.

Published in final edited form as: Ophthalmic Genet. 2017 Mar-Apr; 38(2): 127–132. Published online 2016 Mar 30. doi: 10.3109/13816810.2016.1151898

PMCID:: PMC5967407

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Select item 58526585.

Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase–mTORC1 Translational Pathway

Charlotte C. Bavley, Richard C. Rice, Delaney K. Fischer, Amanda K. Fakira, Maureen Byrne, Maria Kosovsky, Bryant K. Rizzo, Dolores Del Prete, Armin Alaedini, Jose A. Morón, Joseph J. Higgins, Luciano D'Adamio, Anjali M. Rajadhyaksha

J Neurosci. 2018 Mar 14; 38(11): 2780–2795. doi: 10.1523/JNEUROSCI.0599-17.2018

PMCID:: PMC5852658

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Select item 55159566.

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

Bashayer Al-Mubarak, Mohamed Abouelhoda, Aisha Omar, Hesham AlDhalaan, Mohammed Aldosari, Michael Nester, Hussain. A. Alshamrani, Mohamed El-Kalioby, Ewa Goljan, Renad Albar, Shazia Subhani, Asma Tahir, Sultana Asfahani, Alaa Eskandrani, Ahmed Almusaiab, Amna Magrashi, Jameela Shinwari, Dorota Monies, Nada Al Tassan

Sci Rep. 2017; 7: 5679. Published online 2017 Jul 18. doi: 10.1038/s41598-017-06033-1

PMCID:: PMC5515956

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Select item 50708917.

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie- Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau, Care4Rare Canada Consortium, Kym M Boycott, Jacek Majewski, Bernard Brais

Eur J Hum Genet. 2016 Jul; 24(7): 1016–1021. Published online 2015 Dec 2. doi: 10.1038/ejhg.2015.240

PMCID:: PMC5070891

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Select item 50358738.

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

Qing Ouyang, Tojo Nakayama, Ozan Baytas, Shawn M. Davidson, Chendong Yang, Michael Schmidt, Sofia B. Lizarraga, Sasmita Mishra, Malak EI-Quessny, Saima Niaz, Mirrat Gul Butt, Syed Imran Murtaza, Afzal Javed, Haroon Rashid Chaudhry, Dylan J. Vaughan, R. Sean Hill, Jennifer N. Partlow, Seung-Yun Yoo, Anh-Thu N. Lam, Ramzi Nasir, Muna Al-Saffar, A. James Barkovich, Matthew Schwede, Shailender Nagpal, Anna Rajab, Ralph J. DeBerardinis, David E. Housman, Ganeshwaran H. Mochida, Eric M. Morrow

Proc Natl Acad Sci U S A. 2016 Sep 20; 113(38): E5598–E5607. Published online 2016 Sep 6. doi: 10.1073/pnas.1609221113

PMCID:: PMC5035873

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Select item 47431979.

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, Lennart F. Johansson, Anthonie J. van Essen, Johanna B. G. M. Verheij, Hermine E. Veenstra-Knol, Egbert J. W. Redeker, Marcel M. A. M. Mannens, Morris A. Swertz, Behrooz Z. Alizadeh, Conny M. A. van Ravenswaaij-Arts, Richard J. Sinke, Birgit Sikkema-Raddatz

BMC Med Genomics. 2016; 9: 7. Published online 2016 Feb 4. doi: 10.1186/s12920-016-0167-8

PMCID:: PMC4743197

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Select item 352305210.

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

Bridget A Fernandez, Jane S Green, Ford Bursey, Brendan Barrett, Andrée MacMillan, Sarah McColl, Sara Fernandez, Proton Rahman, Krista Mahoney, Sergio L Pereira, Stephen W Scherer, Kym M Boycott, Michael O Woods

BMC Med Genet. 2012; 13: 111. Published online 2012 Nov 21. doi: 10.1186/1471-2350-13-111

PMCID:: PMC3523052

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Select item 350651111.

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections

Xiu Xu, Qiong Xu, Ying Zhang, Xiaodi Zhang, Tianlin Cheng, Bingbing Wu, Yanhua Ding, Ping Lu, Jingjing Zheng, Min Zhang, Zilong Qiu, Xiang Yu

BMC Med Genet. 2012; 13: 75. Published online 2012 Aug 21. doi: 10.1186/1471-2350-13-75

PMCID:: PMC3506511

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Select item 315040312.

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

Huiwen Zhang, Jing Li, Xinshun Zhang, Yu Wang, Wenjuan Qiu, Jun Ye, Lianshu Han, Xiaolan Gao, Xuefan Gu

PLoS One. 2011; 6(8): e22951. Published online 2011 Aug 4. doi: 10.1371/journal.pone.0022951

PMCID:: PMC3150403

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Select item 301069613.

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen

Clin Dev Immunol. 2010; 2010: 586342. Published online 2010 Dec 14. doi: 10.1155/2010/586342

PMCID:: PMC3010696

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Select item 137748114.

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

Y Gotoda, N Wakamatsu, H Kawai, Y Nishida, T Matsumoto

Am J Hum Genet. 1998 Oct; 63(4): 1015–1024. doi: 10.1086/302048

PMCID:: PMC1377481

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Select item 438244515.

Repetitive grooming and sensorimotor abnormalities in an ephrin-A knockout model for Autism Spectrum Disorders

Rachel Wurzman, Patrick A. Forcelli, Christopher J. Griffey, Lawrence F. Kromer

Behav Brain Res. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Behav Brain Res. 2015 Feb 1; 278: 115–128. Published online 2014 Oct 2. doi: 10.1016/j.bbr.2014.09.012

PMCID:: PMC4382445

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