PMC Articles for MedGen (Select 1840204) - PMC

Select item 109400191.

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

James L. Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Carolyn A. Allan, David J. Amor, Siddharth Banka, Donald G. Basel, Laura D. Buch, Deanna Alexis Carere, Renée Carroll, Jill Clayton-Smith, Ali Crawford, Morten Dunø, Laurence Faivre, Christopher P. Gilfillan, Nina B. Gold, Karen W. Gripp, Emma Hobson, Alexander M. Holtz, A. Micheil Innes, Bertrand Isidor, Adam Jackson, Panagiotis Katsonis, Leila Amel Riazat Kesh, Genomics England Research Consortium, Sébastien Küry, François Lecoquierre, Paul Lockhart, Julien Maraval, Naomichi Matsumoto, Julie McCarrier, Josephine McCarthy, Noriko Miyake, Lip Hen Moey, Andrea H. Németh, Elsebet Østergaard, Rushina Patel, Kate Pope, Jennifer E. Posey, Rhonda E. Schnur, Marie Shaw, Elliot Stolerman, Julie P. Taylor, Erin Wadman, Emma Wakeling, Susan M. White, Lawrence C. Wong, James R. Lupski, Olivier Lichtarge, Mark A. Corbett, Jozef Gecz, Charles M. Nicolet, Peggy J. Farnham, Cheol-Hee Kim, Marwan Shinawi

Am J Hum Genet. 2024 Mar 7; 111(3): 487–508. Published online 2024 Feb 6. doi: 10.1016/j.ajhg.2024.01.007

PMCID:: PMC10940019

Abstract Article PDF–4.8M

Select item 102182652.

Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase

Xue-Ying He, Carl Dobkin, William Ted Brown, Song-Yu Yang

Int J Mol Sci. 2023 May; 24(10): 8487. Published online 2023 May 9. doi: 10.3390/ijms24108487

PMCID:: PMC10218265

Abstract Article PDF–4.5M

Select item 72471783.

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib, S Laradi

BMC Med Genet. 2020; 21: 111. Published online 2020 May 24. doi: 10.1186/s12881-020-01051-9

PMCID:: PMC7247178

Abstract Article PDF–2.2M

Select item 67336504.

Nol9 is a Spatial Regulator for the Human ITS2 pre-rRNA Endonuclease-Kinase Complex

Jacob Gordon, Monica C. Pillon, Robin E. Stanley

J Mol Biol. Author manuscript; available in PMC 2020 Sep 6.

Published in final edited form as: J Mol Biol. 2019 Sep 6; 431(19): 3771–3786. Published online 2019 Jul 6. doi: 10.1016/j.jmb.2019.07.007

PMCID:: PMC6733650

Abstract Article PDF–2.3M

Select item 44464465.

Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex

Elisa Vilardo, Walter Rossmanith

Nucleic Acids Res. 2015 May 26; 43(10): 5112–5119. Published online 2015 Apr 29. doi: 10.1093/nar/gkv408

Correction in:: Nucleic Acids Res. 2015 Jul 27; 43(13): 6649.

PMCID:: PMC4446446

Abstract Article PDF–2.7M

Select item 43552776.

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

Kathryn C. Chatfield, Curtis R. Coughlin, II, Marisa W. Friederich, Renata C. Gallagher, Jay R. Hesselberth, Mark A. Lovell, Rob Ofman, Michael A. Swanson, Janet A. Thomas, Ronald J.A. Wanders, Eric P. Wartchow, Johan L.K. Van Hove

Mitochondrion. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: Mitochondrion. 2015 Mar; 21: 1–10. Published online 2015 Jan 6. doi: 10.1016/j.mito.2014.12.005

PMCID:: PMC4355277

Abstract Article PDF–2.8M

Select item 41567657.

Genetic and pharmacological reactivation of the mammalian inactive X chromosome

Sanchita Bhatnagar, Xiaochun Zhu, Jianhong Ou, Ling Lin, Lynn Chamberlain, Lihua J. Zhu, Narendra Wajapeyee, Michael R. Green

Proc Natl Acad Sci U S A. 2014 Sep 2; 111(35): 12591–12598. Published online 2014 Aug 18. doi: 10.1073/pnas.1413620111

PMCID:: PMC4156765

Abstract Article PDF–1.6M

Select item 41305978.

Cholesterol Metabolism Is Altered in Rett Syndrome: A Study on Plasma and Primary Cultured Fibroblasts Derived from Patients

Marco Segatto, Laura Trapani, Ilenia Di Tunno, Claudia Sticozzi, Giuseppe Valacchi, Joussef Hayek, Valentina Pallottini

PLoS One. 2014; 9(8): e104834. Published online 2014 Aug 12. doi: 10.1371/journal.pone.0104834

Correction in:: PLoS One. 2014; 9(11): e114654.

PMCID:: PMC4130597

Abstract Article PDF–671K

Select item 41033429.

Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome

Jorge Castro, Rodrigo I. Garcia, Showming Kwok, Abhishek Banerjee, Jeremy Petravicz, Jonathan Woodson, Nikolaos Mellios, Daniela Tropea, Mriganka Sur

Proc Natl Acad Sci U S A. 2014 Jul 8; 111(27): 9941–9946. Published online 2014 Jun 23. doi: 10.1073/pnas.1311685111

PMCID:: PMC4103342

Abstract Article PDF–1.5M

Select item 360525610.

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

Alexandra M. Lopes, Kenneth I. Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Ni Huang, Rune Matthiesen, Michiel J. Noordam, Inés Quintela, Avinash Ramu, Catarina Seabra, Amy B. Wilfert, Juncheng Dai, Jonathan M. Downie, Susana Fernandes, Xuejiang Guo, Jiahao Sha, António Amorim, Alberto Barros, Angel Carracedo, Zhibin Hu, Matthew E. Hurles, Sergey Moskovtsev, Carole Ober, Darius A. Paduch, Joshua D. Schiffman, Peter N. Schlegel, Mário Sousa, Douglas T. Carrell, Donald F. Conrad

PLoS Genet. 2013 Mar; 9(3): e1003349. Published online 2013 Mar 21. doi: 10.1371/journal.pgen.1003349

PMCID:: PMC3605256

Abstract Article PDF–968K

Select item 322264311.

A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

Laurie H. Seaver, Xue-Ying He, Keith Abe, Tina Cowan, Gregory M. Enns, Lawrence Sweetman, Manfred Philipp, Sansan Lee, Mazhar Malik, Song-Yu Yang

PLoS One. 2011; 6(11): e27348. Published online 2011 Nov 22. doi: 10.1371/journal.pone.0027348

PMCID:: PMC3222643

Abstract Article PDF–809K

Select item 242691512.

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle, Irma Jarvela, Owen Lawrence, Cliff Meldrum, Marijke Bauters, Karen Govaerts, Lucianne Vandeleur, Hilde Van Esch, Jamel Chelly, Damien Sanlaville, Hans van Bokhoven, Hans-Hilger Ropers, Frederic Laumonnier, Enzo Ranieri, Charles E. Schwartz, Fatima Abidi, Patrick S. Tarpey, P. Andrew Futreal, Annabel Whibley, F. Lucy Raymond, Michael R. Stratton, Jean-Pierre Fryns, Rodney Scott, Maarit Peippo, Marjatta Sipponen, Michael Partington, David Mowat, Michael Field, Anna Hackett, Peter Marynen, Gillian Turner, Jozef Gécz

Am J Hum Genet. 2008 Feb 8; 82(2): 432–443. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.002

PMCID:: PMC2426915

Abstract Article PDF–1.3M

Select item 178534013.

The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior

Claus Lenski, R. Frank Kooy, Edwin Reyniers, Daniela Loessner, Ronald J. A. Wanders, Birgitta Winnepenninckx, Heide Hellebrand, Stefanie Engert, Charles E. Schwartz, Alfons Meindl, Juliane Ramser

Am J Hum Genet. 2007 Feb; 80(2): 372–377. Published online 2006 Dec 28. doi: 10.1086/511527

PMCID:: PMC1785340

Abstract Article PDF–918K

Select item 30444314.

Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy.

W W Chen, P A Watkins, T Osumi, T Hashimoto, H W Moser

Proc Natl Acad Sci U S A. 1987 Mar; 84(5): 1425–1428. doi: 10.1073/pnas.84.5.1425

PMCID:: PMC304443

Summary Page Browse PDF–1000K

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