PMC Articles for MedGen (Select 481290) - PMC

Select item 35961171.

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

Zil-e-Huma Bashir, Noreen Latief, Inna A. Belyantseva, Farheena Iqbal, S. Amer Riazuddin, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Saima Riazuddin

J Hum Genet. Author manuscript; available in PMC 2013 Aug 1.

Published in final edited form as: J Hum Genet. 2013 Feb; 58(2): 102–108. Published online 2012 Dec 13. doi: 10.1038/jhg.2012.143

Correction in:: volume 58 on page 641

PMCID:: PMC3596117

Article PDF–1.3M

Select item 67696962.

Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant

Tomohiro Kitano, Shin-ichiro Kitajiri, Shin-ya Nishio, Shin-ichi Usami

Int J Mol Sci. 2019 Sep; 20(18): 4579. Published online 2019 Sep 16. doi: 10.3390/ijms20184579

PMCID:: PMC6769696

Article PDF–2.2M

Select item 55836253.

Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran

Masoud Akbarzadeh Laleh, Marzieh Naseri, Ali Akbar Poursadegh Zonouzi, Ahmad Poursadegh Zonouzi, Marjan Masoudi, Najmeh Ahangari, Leila Shams, Azim Nejatizadeh

J Res Med Sci. 2017; 22: 99. Published online 2017 Aug 16. doi: 10.4103/jrms.JRMS_976_16

PMCID:: PMC5583625

Article PDF–796K

Select item 52152844.

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

Justin A. Pater, Tammy Benteau, Anne Griffin, Cindy Penney, Susan G. Stanton, Sarah Predham, Bernadine Kielley, Jessica Squires, Jiayi Zhou, Quan Li, Nelly Abdelfatah, Darren D. O’Rielly, Terry-Lynn Young

Hum Genet. 2017; 136(1): 107–118. Published online 2016 Nov 12. doi: 10.1007/s00439-016-1746-7

PMCID:: PMC5215284

Article PDF–5.4M

Select item 39940785.

Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss

Min-A Kim, Ye-Ri Kim, Borum Sagong, Hyun-Ju Cho, Jae Woong Bae, Jeongho Kim, Jinwook Lee, Hong-Joon Park, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim

PLoS One. 2014; 9(4): e95646. Published online 2014 Apr 21. doi: 10.1371/journal.pone.0095646

PMCID:: PMC3994078

Article PDF–2.3M

Select item 38415596.

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss

Majida Charif, Redouane Boulouiz, Amina Bakhechane, Houda Benrahma, Halima Nahili, Abdelmajid Eloualid, Hassan Rouba, Mostafa Kandil, Omar Abidi, Guy Lenaers, Abdelhamid Barakat

Indian J Hum Genet. 2013 Jul-Sep; 19(3): 331–336. doi: 10.4103/0971-6866.120828

PMCID:: PMC3841559

Article PDF–965K

Select item 37339957.

The yin and yang of claudin-14 function in human diseases

Jianghui Hou

Ann N Y Acad Sci. Author manuscript; available in PMC 2013 Aug 5.

Published in final edited form as: Ann N Y Acad Sci. 2012 Jul; 1258: 185–190. doi: 10.1111/j.1749-6632.2012.06529.x

PMCID:: PMC3733995

Article PDF–456K

Select item 32761148.

Novel CLDN14 Mutations in Pakistani Families With Autosomal Recessive Non-Syndromic Hearing Loss

Kwanghyuk Lee, Muhammad Ansar, Paula B. Andrade, Bushra Khan, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal

Am J Med Genet A. Author manuscript; available in PMC 2012 Feb 9.

Published in final edited form as: Am J Med Genet A. 2012 Feb; 158A(2): 315–321. Published online 2012 Jan 13. doi: 10.1002/ajmg.a.34407

PMCID:: PMC3276114

Article PDF–1.4M

Select item 81874019.

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John Pappas, Rachel Rabin, Margaret A. Kenna, Andrea M. Oza, Katherine Lafferty, Sami S. Amr, Heidi L. Rehm, Diana L. Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C. Morton, Sholem Y. Scher, Josef Ekstein, Karen B. Avraham, Richard J. H. Smith, Jun Shen

Eur J Hum Genet. 2021 Jun; 29(6): 988–997. Published online 2021 Jan 4. doi: 10.1038/s41431-020-00790-w

PMCID:: PMC8187401

Article PDF–1.7M

Select item 782495110.

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

Ekaterina A. Maslova, Konstantin E. Orishchenko, Olga L. Posukh

Biomolecules. 2021 Jan; 11(1): 61. Published online 2021 Jan 5. doi: 10.3390/biom11010061

PMCID:: PMC7824951

Article PDF–2.2M

Select item 722977911.

Auditory Detection Thresholds and Cochlear Resistivity Differ Between Pediatric Cochlear Implant Listeners With Enlarged Vestibular Aqueduct and Those With Connexin-26 Mutations

Kelly N. Jahn, Molly D. Bergan, Julie G. Arenberg

Am J Audiol. 2020 Mar; 29(1): 23–34. Published online 2020 Jan 14. doi: 10.1044/2019_AJA-19-00054

PMCID:: PMC7229779

Article PDF–276K

Select item 638908112.

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi

BMC Med Genet. 2018; 19: 29. Published online 2018 Feb 27. doi: 10.1186/s12881-018-0541-9

PMCID:: PMC6389081

Article PDF–1.3M

Select item 599645513.

Emerging roles of TRIO and F-actin-binding protein in human diseases

Sungjin Park, Hyunji Lee, Minhee Kim, Jisoo Park, Seon-Hwan Kim, Jongsun Park

Cell Commun Signal. 2018; 16: 29. Published online 2018 Jun 11. doi: 10.1186/s12964-018-0237-y

PMCID:: PMC5996455

Article PDF–1.1M

Select item 573593614.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2

PMCID:: PMC5735936

Article PDF–1.1M

Select item 473195115.

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss

Jiongjiong Hu, Fei Liu, Wenjun Xia, Lili Hao, Jun Lan, Zhenghua Zhu, Jing Ye, Duan Ma, Zhaoxin Ma

J Transl Med. 2016; 14: 29. Published online 2016 Jan 28. doi: 10.1186/s12967-016-0780-5

PMCID:: PMC4731951

Article PDF–1.5M

Select item 464161916.

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

PLoS One. 2015; 10(11): e0142154. Published online 2015 Nov 11. doi: 10.1371/journal.pone.0142154

PMCID:: PMC4641619

Article PDF–446K

Select item 383536917.

SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

Hassen Hadj-Kacem, Rihab Kallel, Salima Belguith-Maalej, Mouna Mnif, Ilhem Charfeddine, Abdelmounem Ghorbel, Mohamed Abid, Hammadi Ayadi, Saber Masmoudi

Dis Markers. 2010; 29(2): 63–69. Published online 2010 Nov 2. doi: 10.3233/DMA-2010-0727

PMCID:: PMC3835369

Summary PDF–1.5M

Select item 305862718.

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population

Michael S. Hildebrand, Kimia Kahrizi, Catherine J. Bromhead, A. Eliot Shearer, Jennifer A. Webster, Hossein Khodaei, Rezvan Abtahi, Niloofar Bazazzadegan, Mojgan Babanejad, Nooshin Nikzat, William J. Kimberling, Dietrich Stephan, Partick L.M. Huygen, Melanie Bahlo, Richard J.H. Smith, Hossein Najmabadi

Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2011 Mar 16.

Published in final edited form as: Ann Otol Rhinol Laryngol. 2010 Dec; 119(12): 830–835. doi: 10.1177/000348941011901207

PMCID:: PMC3058627

Article PDF–273K

Select item 284566719.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Elena Aller, Teresa Jaijo, Erwin van Wijk, Inga Ebermann, Ferry Kersten, Gema García-García, Krysta Voesenek, María José Aparisi, Lies Hoefsloot, Cor Cremers, Manuel Díaz-Llopis, Ronald Pennings, Hanno J. Bolz, Hannie Kremer, José M. Millán

Mol Vis. 2010; 16: 495–500. Published online 2010 Mar 23.

PMCID:: PMC2845667

Article PDF–914K

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