PMC Articles for MedGen (Select 463309) - PMC

Select item 87955031.

Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2

Radhakrishnan Kanagaraj, Richard Mitter, Theodoros Kantidakis, Matthew M. Edwards, Anaid Benitez, Probir Chakravarty, Beiyuan Fu, Olivier Becherel, Fengtang Yang, Martin F. Lavin, Amnon Koren, Aengus Stewart, Stephen C. West

Proc Natl Acad Sci U S A. 2022 Jan 25; 119(4): e2114314119. Published online 2022 Jan 18. doi: 10.1073/pnas.2114314119

PMCID:: PMC8795503

Abstract Article PDF–1.7M

Select item 85088492.

Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene

Paul R. Fisher, Claire Y. Allan, Oana Sanislav, Anna Atkinson, Kevin R. W. Ngoei, Bruce E. Kemp, Elsdon Storey, Danuta Z. Loesch, Sarah J. Annesley

Int J Mol Sci. 2021 Oct; 22(19): 10393. Published online 2021 Sep 27. doi: 10.3390/ijms221910393

PMCID:: PMC8508849

Abstract Article PDF–5.8M

Select item 82596403.

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness

Karl P. Schlingmann, Aparna Renigunta, Ewout J. Hoorn, Anna-Lena Forst, Vijay Renigunta, Velko Atanasov, Sinthura Mahendran, Tahsin Stefan Barakat, Valentine Gillion, Nathalie Godefroid, Alice S. Brooks, Dorien Lugtenberg, Jennifer Lake, Huguette Debaix, Christoph Rudin, Bertrand Knebelmann, Stephanie Tellier, Caroline Rousset-Rouvière, Daan Viering, Jeroen H. F. de Baaij, Stefanie Weber, Oleg Palygin, Alexander Staruschenko, Robert Kleta, Pascal Houillier, Detlef Bockenhauer, Olivier Devuyst, Rosa Vargas-Poussou, Richard Warth, Anselm A. Zdebik, Martin Konrad

J Am Soc Nephrol. 2021 Jun; 32(6): 1498–1512. Published online 2021 Jun 1. doi: 10.1681/ASN.2020111587

PMCID:: PMC8259640

Abstract Article

Select item 80984514.

Transgenic and Knockout Mice in Research on Prion Diseases

Alex J. Raeber, Sebastian Brandner, Michael A. Klein, Yves Benninger, Christine Musahl, Rico Frigg, Christiane Roeckl, Michael B. Fischer, Charles Weissmann, Adriano Aguzzi

Brain Pathol. 1998 Oct; 8(4): 715–733. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.1998.tb00197.x

PMCID:: PMC8098451

Summary PDF–287K

Select item 52559445.

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Britt-Sabina Petersen, Ulrike Weber, Wolfgang M Schmidt, Johannes Zschocke, Thomas Müller, Reginald E Bittner, Andreas R Janecke

Eur J Hum Genet. 2017 Feb; 25(2): 262–266. Published online 2016 Oct 26. doi: 10.1038/ejhg.2016.144

PMCID:: PMC5255944

Abstract Article PDF–1.4M

Select item 43166816.

Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation

Robert F. Berman, Karl D. Murray, Gloria Arque, Michael R. Hunsaker, H. Jürgen Wenzel

Epilepsia. Author manuscript; available in PMC 2015 Feb 4.

Published in final edited form as: Epilepsia. 2012 Jun; 53(0 1): 150–160. doi: 10.1111/j.1528-1167.2012.03486.x

PMCID:: PMC4316681

Abstract Article PDF–1.5M

Select item 30990237.

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

Dorothy A Thompson, Sally Feather, Horia C Stanescu, Bernard Freudenthal, Anselm A Zdebik, Richard Warth, Milos Ognjanovic, Sally A Hulton, Evangeline Wassmer, William van't Hoff, Isabelle Russell-Eggitt, Angus Dobbie, Eamonn Sheridan, Robert Kleta, Detlef Bockenhauer

J Physiol. 2011 Apr 1; 589(Pt 7): 1681–1689. Published online 2011 Feb 7. doi: 10.1113/jphysiol.2010.198531

PMCID:: PMC3099023

Abstract Article PDF–447K

Select item 29738258.

ATM Limits Incorrect End Utilization during Non-Homologous End Joining of Multiple Chromosome Breaks

Nicole Bennardo, Jeremy M. Stark

PLoS Genet. 2010 Nov; 6(11): e1001194. Published online 2010 Nov 4. doi: 10.1371/journal.pgen.1001194

PMCID:: PMC2973825

Abstract Article PDF–446K

Select item 21697909.

Machado-Joseph disease presenting as severe asymmetric proximal neuropathy

I N van Schaik, G Jobsis, M Vermeulen, H Keizers, P Bolhuis, M de Visser

J Neurol Neurosurg Psychiatry. 1997 Oct; 63(4): 534–536. doi: 10.1136/jnnp.63.4.534

PMCID:: PMC2169790

Summary PDF–73K

Select item 195214910.

The Mre11 Complex Mediates the S-Phase Checkpoint through an Interaction with Replication Protein A

Erin Olson, Christian J. Nievera, Enbo Liu, Alan Yueh-Luen Lee, Longchuan Chen, Xiaohua Wu

Mol Cell Biol. 2007 Sep; 27(17): 6053–6067. Published online 2007 Jun 25. doi: 10.1128/MCB.00532-07

PMCID:: PMC1952149

Abstract Article PDF–936K

Select item 168330511.

Localization of the gene encoding the GABAA receptor β3 subunit to the Angelman/Prader-Willi region of human chromosome 15

J. Wagstaff, J. H. M. Knoll, J. Fleming, E. F. Kirkness, A. Martin-Gallardo, F. Greenberg, J. M. Graham, J. Menninger, D. Ward, J. C. Venter, M. Lalande

Am J Hum Genet. 1991 Aug; 49(2): 330–337.

PMCID:: PMC1683305

Summary Page Browse PDF–1.3M

Select item 168274412.

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

M A McShane, S R Hammans, M Sweeney, I J Holt, T J Beattie, E M Brett, A E Harding

Am J Hum Genet. 1991 Jan; 48(1): 39–42.

PMCID:: PMC1682744

Summary Page Browse PDF–718K

Select item 168246913.

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

A Rötig, J L Bessis, N Romero, V Cormier, J M Saudubray, P Narcy, G Lenoir, P Rustin, A Munnich

Am J Hum Genet. 1992 Feb; 50(2): 364–370.

PMCID:: PMC1682469

Summary Page Browse PDF–1.9M

Select item 137794014.

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

P F Worth, P Giunti, C Gardner-Thorpe, P H Dixon, M B Davis, N W Wood

Am J Hum Genet. 1999 Aug; 65(2): 420–426. doi: 10.1086/302495

PMCID:: PMC1377940

Summary PDF–228K

Select item 118035015.

Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

Sébastien Jacquemont, Randi J. Hagerman, Maureen Leehey, Jim Grigsby, Lin Zhang, James A. Brunberg, Claudia Greco, Vincent Des Portes, Tristan Jardini, Richard Levine, Elizabeth Berry-Kravis, W. Ted Brown, Stephane Schaeffer, John Kissel, Flora Tassone, Paul J. Hagerman

Am J Hum Genet. 2003 Apr; 72(4): 869–878. Published online 2003 Mar 12. doi: 10.1086/374321