PMC Articles for MedGen (Select 346670) - PMC

Select item 45615501.

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

Gowri Nayak, Lukas Varga, Claire Trincot, Mohsin Shahzad, Penelope L. Friedman, Iwar Klimes, John H. Greinwald, Jr., S Amer Riazuddin, Ivica Masindova, Milan Profant, Shaheen N. Khan, Thomas B. Friedman, Zubair M. Ahmed, Daniela Gasperikova, Sheikh Riazuddin, Saima Riazuddin

Hum Genet. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Hum Genet. 2015 Apr; 134(4): 423–437. Published online 2015 Feb 10. doi: 10.1007/s00439-015-1532-y

PMCID:: PMC4561550

Abstract Article PDF–1.1M

Select item 44017082.

MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin

Ivica Mašindová, Andrea Šoltýsová, Lukáš Varga, Petra Mátyás, Andrej Ficek, Miloslava Hučková, Martina Sůrová, Dana Šafka-Brožková, Saima Anwar, Judit Bene, Slavomír Straka, Ingrid Janicsek, Zubair M. Ahmed, Pavel Seeman, Béla Melegh, Milan Profant, Iwar Klimeš, Saima Riazuddin, Ľudevít Kádasi, Daniela Gašperíková

PLoS One. 2015; 10(4): e0124232. Published online 2015 Apr 17. doi: 10.1371/journal.pone.0124232

PMCID:: PMC4401708

Abstract Article PDF–1.6M

Select item 43789753.

Deficiency of Angulin-2/ILDR1, a Tricellular Tight Junction-Associated Membrane Protein, Causes Deafness with Cochlear Hair Cell Degeneration in Mice

Tomohito Higashi, Tatsuya Katsuno, Shin-ichiro Kitajiri, Mikio Furuse

PLoS One. 2015; 10(3): e0120674. Published online 2015 Mar 30. doi: 10.1371/journal.pone.0120674

PMCID:: PMC4378975

Abstract Article PDF–24M

Select item 37542624.

Tricellulin deficiency affects tight junction architecture and cochlear hair cells

Gowri Nayak, Sue I. Lee, Rizwan Yousaf, Stephanie E. Edelmann, Claire Trincot, Christina M. Van Itallie, Ghanshyam P. Sinha, Maria Rafeeq, Sherri M. Jones, Inna A. Belyantseva, James M. Anderson, Andrew Forge, Gregory I. Frolenkov, Saima Riazuddin

J Clin Invest. 2013 Sep 3; 123(9): 4036–4049. Published online 2013 Aug 27. doi: 10.1172/JCI69031

PMCID:: PMC3754262

Abstract Article PDF–6.2M

Select item 27570495.

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families

Muhammad S. Chishti, Attya Bhatti, Sana Tamim, Kwanghyuk Lee, Merry-Lynn McDonald, Suzanne M. Leal, Wasim Ahmad

J Hum Genet. Author manuscript; available in PMC 2009 Oct 5.

Published in final edited form as: J Hum Genet. 2008; 53(2): 101–105. Published online 2007 Dec 15. doi: 10.1007/s10038-007-0209-3

PMCID:: PMC2757049

Abstract Article PDF–1.1M

Select item 16987166.

Tricellulin Is a Tight-Junction Protein Necessary for Hearing

Saima Riazuddin, Zubair M. Ahmed, Alan S. Fanning, Ayala Lagziel, Shin-ichiro Kitajiri, Khushnooda Ramzan, Shaheen N. Khan, Parna Chattaraj, Penelope L. Friedman, James M. Anderson, Inna A. Belyantseva, Andrew Forge, Sheikh Riazuddin, Thomas B. Friedman

Am J Hum Genet. 2006 Dec; 79(6): 1040–1051. Published online 2006 Oct 31. doi: 10.1086/510022

PMCID:: PMC1698716

Abstract Article PDF–7.4M

Select item 46834107.

Deletion of Tricellulin Causes Progressive Hearing Loss Associated with Degeneration of Cochlear Hair Cells

Toru Kamitani, Hirofumi Sakaguchi, Atsushi Tamura, Takenori Miyashita, Yuji Yamazaki, Reitaro Tokumasu, Ryuhei Inamoto, Ai Matsubara, Nozomu Mori, Yasuo Hisa, Sachiko Tsukita

Sci Rep. 2015; 5: 18402. Published online 2015 Dec 18. doi: 10.1038/srep18402

PMCID:: PMC4683410

Abstract Article PDF–2.4M

Select item 41337288.

Deafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells

Shin-ichiro Kitajiri, Tatsuya Katsuno, Hiroyuki Sasaki, Juichi Ito, Mikio Furuse, Shoichiro Tsukita

Biol Open. 2014 Aug 15; 3(8): 759–766. Published online 2014 Jul 25. doi: 10.1242/bio.20147799

PMCID:: PMC4133728

Abstract Article PDF–949K

Select item 99184279.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

HGG Adv. 2023 Apr 13; 4(2): 100181. Published online 2023 Jan 18. doi: 10.1016/j.xhgg.2023.100181

PMCID:: PMC9918427

Abstract Article PDF–1.9M

Select item 909358910.

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study

Ryan K. Thorpe, Hela Azaiez, Peina Wu, Qiuju Wang, Lei Xu, Pu Dai, Tao Yang, G. Bradley Schaefer, B. Robert Peters, Kenny H. Chan, Krista S. Schatz, Joann Bodurtha, Nathaniel H. Robin, Yoel Hirsch, Zuhair Abdalla Rahbeeni, Huijun Yuan, Richard J.H. Smith

Hum Genet. Author manuscript; available in PMC 2022 May 11.

Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 853–863. Published online 2021 Aug 23. doi: 10.1007/s00439-021-02340-w

PMCID:: PMC9093589

Abstract Article PDF–1.1M

Select item 894438911.

The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene

David G. Birch, Lassana Samarakoon, Michele Melia, Jacque L. Duncan, Allison R. Ayala, Isabelle Audo, Janet K. Cheetham, Todd A. Durham, Alessandro Iannaccone, Mark E. Pennesi, Katarina Stingl, for the Foundation Fighting Blindness Consortium Investigator Group

Invest Ophthalmol Vis Sci. 2022 Mar; 63(3): 17. Published online 2022 Mar 16. doi: 10.1167/iovs.63.3.17

PMCID:: PMC8944389

Abstract Article PDF–1.7M

Select item 889848712.

A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

Ting Wu, Limei Cui, Yakui Mou, Wentao Guo, Dawei Liu, Jingjing Qiu, Cong Xu, Jiamin Zhou, Fengchan Han, Yan Sun

BMC Med Genomics. 2022; 15: 49. Published online 2022 Mar 6. doi: 10.1186/s12920-022-01200-4

PMCID:: PMC8898487

Abstract Article PDF–1.4M

Select item 638099313.

New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population

Jing Zheng, Wen-fang Meng, Chao-fan Zhang, Han-qing Liu, Juan Yao, Hui Wang, Ye Chen, Min-xin Guan

J Zhejiang Univ Sci B. 2019 Feb; 20(2): 164–169. doi: 10.1631/jzus.B1700185

PMCID:: PMC6380993

Abstract Article PDF–688K

Select item 540718114.

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

Pooja Biswas, Jacque L. Duncan, Bruno Maranhao, Igor Kozak, Kari Branham, Luis Gabriel, Jonathan H. Lin, Giulio Barteselli, Mili Navani, John Suk, Michelle Parke, Catherine Schlechter, Richard G. Weleber, John R. Heckenlively, Gislin Dagnelie, Pauline Lee, S. Amer Riazuddin, Radha Ayyagari

Physiol Genomics. 2017 Apr 1; 49(4): 216–229. Published online 2017 Jan 27. doi: 10.1152/physiolgenomics.00096.2016

PMCID:: PMC5407181

Abstract Article

Select item 502157315.

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N. Khan, Ayesha Imtiaz, Zubair M. Ahmed, Saima Riazuddin, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Thomas B. Friedman

Hum Mutat. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Hum Mutat. 2016 Oct; 37(10): 991–1003. Published online 2016 Aug 21. doi: 10.1002/humu.23042

PMCID:: PMC5021573

Abstract Article PDF–1.7M

Select item 455996616.

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen, Ruifang Sui

Orphanet J Rare Dis. 2015; 10: 110. Published online 2015 Sep 4. doi: 10.1186/s13023-015-0329-3

PMCID:: PMC4559966

Abstract Article PDF–2.6M

Select item 430224617.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

B Vona, MAH Hofrichter, C Neuner, J Schröder, A Gehrig, JB Hennermann, F Kraus, W Shehata-Dieler, E Klopocki, I Nanda, T Haaf

Clin Genet. 2015 Jan; 87(1): 49–55. Published online 2014 Jan 21. doi: 10.1111/cge.12332

PMCID:: PMC4302246

Abstract Article PDF–1.5M

Select item 429124218.

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

Eva L. Morozko, Ayako Nishio, Neil J. Ingham, Rashmi Chandra, Tracy Fitzgerald, Elisa Martelletti, Guntram Borck, Elizabeth Wilson, Gavin P. Riordan, Philine Wangemann, Andrew Forge, Karen P. Steel, Rodger A. Liddle, Thomas B. Friedman, Inna A. Belyantseva

Hum Mol Genet. 2015 Feb 1; 24(3): 609–624. Published online 2014 Sep 12. doi: 10.1093/hmg/ddu474

PMCID:: PMC4291242

Abstract Article PDF–1.8M

Select item 367840219.

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B Steele-Stallard, John Ambrose, Alison Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P Steel, Linda M Luxon, Andrew R Webster, Maria Bitner-Glindzicz

J Med Genet. 2012 Jan; 49(1): 27–36. Published online 2011 Dec 1. doi: 10.1136/jmedgenet-2011-100468

PMCID:: PMC3678402

Abstract Article PDF–157K

Select item 226671520.

Alstrom syndrome (OMIM 203800): a case report and literature review

Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A Hegele, Paul N Durrington

Orphanet J Rare Dis. 2007; 2: 49. Published online 2007 Dec 21. doi: 10.1186/1750-1172-2-49

PMCID:: PMC2266715

Abstract Article PDF–358K

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