PMC Articles for MedGen (Select 346670) - PMC

Select item 46834101.

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

Article PDF–2.4M

Select item 45615502.

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

Article PDF–1.1M

Select item 44017083.

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

Article PDF–1.6M

Select item 43789754.

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

Article PDF–24M

Select item 41337285.

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

Article PDF–949K

Select item 37542626.

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

Article PDF–6.2M

Select item 27570497.

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

Article PDF–1.1M

Select item 16987168.

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

Article PDF–7.4M

Select item 42912429.

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

Article PDF–1.8M

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