PMC Articles for MedGen (Select 854637) - PMC

Result Filters

Links from MedGen

Items: 16

Select item 63700111.

Defects in the alternative splicing-dependent regulation of REST cause deafness

Yoko Nakano, Michael C. Kelly, Atteeq U. Rehman, Erich T. Boger, Robert J. Morell, Matthew W. Kelley, Thomas B. Friedman, Botond Bánfi

Cell. Author manuscript; available in PMC 2019 Jul 26.

Published in final edited form as: Cell. 2018 Jul 26; 174(3): 536–548.e21. Published online 2018 Jun 28. doi: 10.1016/j.cell.2018.06.004

PMCID:: PMC6370011

Article PDF–2.9M

Select item 98653422.

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants

Susanne Rinné, Annemarie Oertli, Claudia Nagel, Philipp Tomsits, Tina Jenewein, Stefan Kääb, Silke Kauferstein, Axel Loewe, Britt Maria Beckmann, Niels Decher

Int J Mol Sci. 2023 Jan; 24(2): 1350. Published online 2023 Jan 10. doi: 10.3390/ijms24021350

PMCID:: PMC9865342

Article PDF–3.0M

Select item 90070943.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159

PMCID:: PMC9007094

Article PDF–1.3M

Select item 86181674.

A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

Noluthando Manyisa, Isabelle Schrauwen, Leonardo Alves de Souza Rios, Shaheen Mowla, Cedrik Tekendo-Ngongang, Kalinka Popel, Kevin Esoh, Thashi Bharadwaj, Liz M. Nouel-Saied, Anushree Acharya, Abdul Nasir, Edmond Wonkam-Tingang, Carmen de Kock, Collet Dandara, Suzanne M. Leal, Ambroise Wonkam

Genes (Basel) 2021 Nov; 12(11): 1765. Published online 2021 Nov 6. doi: 10.3390/genes12111765

PMCID:: PMC8618167

Article PDF–8.4M

Select item 80592875.

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1

Yingying Gong, Li Xiong, Xiujun Li, Lei Su, Haipeng Xiao

BMC Endocr Disord. 2021; 21: 76. Published online 2021 Apr 21. doi: 10.1186/s12902-021-00748-z

PMCID:: PMC8059287

Article PDF–2.4M

Select item 71408436.

Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-onset Progressive Hearing Loss

Shin-ichiro Oka, Timothy F. Day, Shin-ya Nishio, Hideaki Moteki, Maiko Miyagawa, Shinya Morita, Shuji Izumi, Tetsuo Ikezono, Satoko Abe, Jun Nakayama, Misako Hyogo, Nobuhiko Okamoto, Natsumi Uehara, Chie Oshikawa, Shin-ichiro Kitajiri, Shin-ichi Usami

Genes (Basel) 2020 Mar; 11(3): 273. Published online 2020 Mar 4. doi: 10.3390/genes11030273

PMCID:: PMC7140843

Article PDF–1.8M

Select item 46274127.

A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome

Tetsuji Okawa, Masanori Yoshida, Takeshi Usui, Takahiro Kudou, Yasumasa Iwasaki, Kazuki Fukuoka, Norio Takahashi, Yuka Uehara, Yutaka Oiso

BMC Endocr Disord. 2015; 15: 66. Published online 2015 Oct 30. doi: 10.1186/s12902-015-0065-7

PMCID:: PMC4627412

Article PDF–1.5M

Select item 42170228.

Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations

Majdi Nagara, Konstantinos Voskarides, Sonia Nouira, Nizar Ben Halim, Rym Kefi, Hajer Aloulou, Lilia Romdhane, Rim Ben Abdallah, Faten Ben Rhouma, Khaoula Aissa, Lamia Boughamoura, Thouraya Kammoun, Hatem Azzouz, Saoussen Abroug, Hathemi Ben Turkia, Abdelkarim Ayadi, Ridha Mrad, Imen Chabchoub, Mongia Hachicha, Jalel Chemli, Constantinos Deltas, Sonia Abdelhak

Genet Test Mol Biomarkers. 2014 Nov 1; 18(11): 741–748. doi: 10.1089/gtmb.2014.0175

PMCID:: PMC4217022

Article PDF–441K

Select item 41899679.

Juvenile Paget’s Disease With Heterozygous Duplication In TNFRSF11A Encoding RANK

Michael P. Whyte, Cristina Tau, William H. McAlister, Xiafang Zhang, Deborah V. Novack, Virginia Preliasco, Eduardo Santini-Araujo, Steven Mumm

Bone. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Bone. 2014 Nov; 68: 153–161. Published online 2014 Jul 23. doi: 10.1016/j.bone.2014.07.019

PMCID:: PMC4189967

Article PDF–2.4M

Select item 369075810.

Increased AβPP Processing in Familial Danish Dementia Patients

Shuji Matsuda, Robert Tamayev, Luciano D’Adamio

J Alzheimers Dis. Author manuscript; available in PMC 2013 Jun 24.

Published in final edited form as: J Alzheimers Dis. 2011; 27(2): 385–391. doi: 10.3233/JAD-2011-110785

PMCID:: PMC3690758

Article PDF–856K

Select item 333847611.

Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome

Alessandro Pecci, Ginevra Biino, Tiziana Fierro, Valeria Bozzi, Annamaria Mezzasoma, Patrizia Noris, Ugo Ramenghi, Giuseppe Loffredo, Fabrizio Fabris, Stefania Momi, Umberto Magrini, Mario Pirastu, Anna Savoia, Carlo Balduini, Paolo Gresele, for the Italian Registry for MYH9-releated diseases

PLoS One. 2012; 7(4): e35986. Published online 2012 Apr 25. doi: 10.1371/journal.pone.0035986

PMCID:: PMC3338476

Article PDF–317K

Select item 270936212.

Allele-specific Effects of Human Deafness γ-Actin Mutations (DFNA20/26) on the Actin/Cofilin Interaction

Keith E. Bryan, Peter A. Rubenstein

J Biol Chem. 2009 Jul 3; 284(27): 18260–18269. Published online 2009 May 6. doi: 10.1074/jbc.M109.015818

PMCID:: PMC2709362

Article PDF–3.0M

Select item 127435013.

Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes

Karen E. Heath, Angel Campos-Barros, Amos Toren, Galit Rozenfeld-Granot, Lena E. Carlsson, Judy Savige, Joyce C. Denison, Martin C. Gregory, James G. White, David F Barker, Andreas Greinacher, Charles J. Epstein, Marc J. Glucksman, John A. Martignetti

Am J Hum Genet. 2001 Nov; 69(5): 1033–1045. Published online 2001 Oct 4. doi: 10.1086/324267