PMC Articles for MedGen (Select 1676229) - PMC

Select item 108001341.

Rett and Rett-related disorders: Common mechanisms for shared symptoms?

Santosh R D’Mello

Exp Biol Med (Maywood) 2023 Nov; 248(22): 2095–2108. Published online 2023 Dec 6. doi: 10.1177/15353702231209419

PMCID:: PMC10800134

Select item 98200692.

Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency

Stephen J. Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, Catherine Vanhulle, François Lecoquierre, Soumeya Bekri, Michael S. Kilberg

Int J Mol Sci. 2023 Jan; 24(1): 559. Published online 2022 Dec 29. doi: 10.3390/ijms24010559

PMCID:: PMC9820069

Abstract Article PDF–1.8M

Select item 94784013.

Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency

Stephen J. Staklinski, Mario C. Chang, Fang Yu, Kathleen Collins Ruff, David N. Franz, Zhijian Qian, Linda B. Bloom, Matthew E. Merritt, Robert McKenna, Michael S. Kilberg

J Biol Chem. 2022 Sep; 298(9): 102385. Published online 2022 Aug 17. doi: 10.1016/j.jbc.2022.102385

PMCID:: PMC9478401

Abstract Article PDF–4.0M

Select item 74443164.

A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1

Amy Sirr, Russell S. Lo, Gareth A. Cromie, Adrian C. Scott, Julee Ashmead, Mirutse Heyesus, Aimée M. Dudley

J Inherit Metab Dis. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: J Inherit Metab Dis. 2020 Jul; 43(4): 758–769. Published online 2020 Feb 27. doi: 10.1002/jimd.12227

PMCID:: PMC7444316

Abstract Article PDF–1.0M

Select item 72723235.

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Michael E. Coulter, Damir Musaev, Ellen M. DeGennaro, Xiaochang Zhang, Katrin Henke, Kiely N. James, Richard S. Smith, R. Sean Hill, Jennifer N. Partlow, Muna Al-Saffar, A. Stacy Kamumbu, Nicole Hatem, A. James Barkovich, Jacqueline Aziza, Nicolas Chassaing, Maha S. Zaki, Tipu Sultan, Lydie Burglen, Anna Rajab, Lihadh Al-Gazali, Ganeshwaran H. Mochida, Matthew P. Harris, Joseph G. Gleeson, Christopher A. Walsh

Genet Med. 2020; 22(6): 1040–1050. Published online 2020 Feb 27. doi: 10.1038/s41436-020-0758-9

PMCID:: PMC7272323

Abstract Article PDF–2.9M

Select item 60054496.

Nuclear PTEN deficiency causes microcephaly with decreased neuronal soma size and increased seizure susceptibility

Atsushi Igarashi, Kie Itoh, Tatsuya Yamada, Yoshihiro Adachi, Takashi Kato, Daisuke Murata, Hiromi Sesaki, Miho Iijima

J Biol Chem. 2018 Jun 15; 293(24): 9292–9300. Published online 2018 May 7. doi: 10.1074/jbc.RA118.002356

PMCID:: PMC6005449

Abstract Article PDF–3.2M

Select item 58389847.

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F. Hoffmann, Urania Kotzaeridou, Lucia Lichvarova, Mailis Liiv, Christine Makowski, Merle Mandel, Thomas Meitinger, Sander Pajusalu, Richard J. Rodenburg, Dzhamilja Safiulina, Tim M. Strom, Inga Talvik, Annika Vaarmann, Callum Wilson, Allen Kaasik, Tobias B. Haack, Katrin Õunap

Eur J Hum Genet. 2018 Mar; 26(3): 407–419. Published online 2018 Jan 17. doi: 10.1038/s41431-017-0001-6

PMCID:: PMC5838984

Abstract Article PDF–1.8M

Select item 57716918.

Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome

Meiyu Xu, Qing Ouyang, Jingyi Gong, Matthew F. Pescosolido, Brandon S. Pruett, Sasmita Mishra, Michael Schmidt, Richard N. Jones, Ece D. Gamsiz Uzun, Sofia B. Lizarraga, Eric M. Morrow

eNeuro. 2017 Nov-Dec; 4(6): ENEURO.0388-17.2017. Prepublished online 2017 Dec 26. Published online 2018 Jan 17. doi: 10.1523/ENEURO.0388-17.2017

PMCID:: PMC5771691

Abstract Article PDF–13M

Select item 55006689.

Amino acid synthesis deficiencies

T. J. de Koning

J Inherit Metab Dis. 2017; 40(4): 609–620. Published online 2017 Jun 26. doi: 10.1007/s10545-017-0063-1

PMCID:: PMC5500668

Abstract Article PDF–475K

Select item 458777710.

Mutation in WDR4 impairs tRNA m⁷G₄₆ methylation and causes a distinct form of microcephalic primordial dwarfism

Ranad Shaheen, Ghada M H Abdel-Salam, Michael P. Guy, Rana Alomar, Mohamed S. Abdel-Hamid, Hanan H. Afifi, Samira I. Ismail, Bayoumi A. Emam, Eric M. Phizicky, Fowzan S. Alkuraya

Genome Biol. 2015; 16: 210. Published online 2015 Sep 28. doi: 10.1186/s13059-015-0779-x

PMCID:: PMC4587777

Abstract Article PDF–1.6M

Select item 412147911.

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

Ranad Shaheen, Zuhair Rahbeeni, Amal Alhashem, Eissa Faqeih, Qi Zhao, Yong Xiong, Agaadir Almoisheer, Sarah M. Al-Qattan, Halima A. Almadani, Noufa Al-Onazi, Badi S. Al-Baqawi, Mohammad Ali Saleh, Fowzan S. Alkuraya

Am J Hum Genet. 2014 Jun 5; 94(6): 898–904. doi: 10.1016/j.ajhg.2014.04.015

PMCID:: PMC4121479

Abstract Article PDF–1.6M

Select item 399905112.

PRKDC mutations in a SCID patient with profound neurological abnormalities

Lisa Woodbine, Jessica A. Neal, Nanda-Kumar Sasi, Mayuko Shimada, Karen Deem, Helen Coleman, William B. Dobyns, Tomoo Ogi, Katheryn Meek, E. Graham Davies, Penny A. Jeggo

J Clin Invest. 2013 Jul 1; 123(7): 2969–2980. Published online 2013 Jun 3. doi: 10.1172/JCI67349

PMCID:: PMC3999051

Abstract Article PDF–2.4M

Select item 378428113.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

Emma A. Webb, Angham AlMutair, Daniel Kelberman, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, Cynthia L. Andoniadou, Abdul Banyan, Al Alsawaid, Muhammad T. Alrifai, Mohammed A. Alahmesh, M. Balwi, Seyedeh N. Mousavy-Gharavy, Biljana Lukovic, Derek Burke, Mark J. McCabe, Tessa Kasia, Robert Kleta, Elia Stupka, Philip L. Beales, Dorothy A. Thompson, W. Kling Chong, Fowzan S. Alkuraya, Juan-Pedro Martinez-Barbera, Jane C. Sowden, Mehul T. Dattani

Brain. 2013 Oct; 136(10): 3096–3105. Published online 2013 Sep 10. doi: 10.1093/brain/awt218

PMCID:: PMC3784281

Abstract Article PDF–1.1M

Select item 310951014.

Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25

Deepika D’Cunha Burkardt, Jill A. Rosenfeld, Maria Helgeson, Brad Angle, Valerie Banks, Wendy Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy M. Niyazov, Cathy Stevens, Elaine Zackai, Robert Roger Lebel, Douglas Ashley, Nancy Kramer, Ralph S. Lachman, John M. Graham, Jr.

Am J Med Genet A. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1336–1351. Published online 2011 May 5. doi: 10.1002/ajmg.a.34049

PMCID:: PMC3109510

Abstract Article PDF–4.1M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 14

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity