PMC Links for Nucleotide (Select 1519243652) - PMC

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Items: 17

Select item 58915011.

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

Sebastien P. F. JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven, Tony Cox, Kristof Deben, Katrien Ketelslagers, Tom Crins, Wim Wuyts

Eur J Hum Genet. 2018 Apr; 26(4): 587–591. Published online 2018 Feb 15. doi: 10.1038/s41431-017-0066-2

PMCID:: PMC5891501

Abstract Article PDF–500K

Select item 57899082.

Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa

Alexander Nyström, Olivier Bornert, Tobias Kühl, Christine Gretzmeier, Kerstin Thriene, Jörn Dengjel, Andrea Pfister-Wartha, Dimitra Kiritsi, Leena Bruckner-Tuderman

Proc Natl Acad Sci U S A. 2018 Jan 23; 115(4): E705–E714. Published online 2018 Jan 5. doi: 10.1073/pnas.1709111115

PMCID:: PMC5789908

Abstract Article PDF–2.1M

Select item 52431273.

Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9

Qi Wang, Peipei Fei, Hongbo Gu, Yanmei Zhang, Xiaomei Ke, Yuhe Liu

PLoS One. 2017; 12(1): e0170011. Published online 2017 Jan 18. doi: 10.1371/journal.pone.0170011

PMCID:: PMC5243127

Abstract Article PDF–1.3M

Select item 52230384.

Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH

Xiaodong Gu, Wenling Su, Mingliang Tang, Luo Guo, Liping Zhao, Huawei Li

Neural Plast. 2016; 2016: 5310192. Published online 2016 Dec 27. doi: 10.1155/2016/5310192

PMCID:: PMC5223038

Abstract Article PDF–668K

Select item 54284325.

Interaction of cochlin and mechanosensitive channel TREK-1 in trabecular meshwork cells influences the regulation of intraocular pressure

Teresia A. Carreon, Aida Castellanos, Xavier Gasull, Sanjoy K. Bhattacharya

Sci Rep. 2017; 7: 452. Published online 2017 Mar 28. doi: 10.1038/s41598-017-00430-2

Correction in:: Sci Rep. 2017; 7: 6430.

PMCID:: PMC5428432

Abstract Article PDF–1.6M

Select item 51350526.

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Shin-ichi Usami

PLoS One. 2016; 11(12): e0166781. Published online 2016 Dec 2. doi: 10.1371/journal.pone.0166781

PMCID:: PMC5135052

Abstract Article PDF–1020K

Select item 50230927.

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients

Kentaro Mori, Hideaki Moteki, Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

PLoS One. 2016; 11(9): e0162230. Published online 2016 Sep 14. doi: 10.1371/journal.pone.0162230

PMCID:: PMC5023092

Abstract Article PDF–226K

Select item 45814128.

Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology

Maria Carolina CCosta CMelo Svidnicki, Sueli Matilde Silva-Costa, Priscila Zonzini Ramos, Nathalia Zocal Pereira dos Santos, Fábio Tadeu Arrojo Martins, Arthur Menino Castilho, Edi Lúcia Sartorato

BMC Med Genet. 2015; 16: 85. Published online 2015 Sep 23. doi: 10.1186/s12881-015-0232-8

PMCID:: PMC4581412

Abstract Article PDF–759K

Select item 45679559.

Identification of Genes Expressed in Hyperpigmented Skin using Meta-Analysis of Microarray Datasets

Lanlan Yin, Sergio G. Coelho, Julio C. Valencia, Dominik Ebsen, Andre Mahns, Christoph Smuda, Sharon A. Miller, Janusz Z. Beer, Ludger Kolbe, Vincent J. Hearing

J Invest Dermatol. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: J Invest Dermatol. 2015 Oct; 135(10): 2455–2463. Published online 2015 Jun 7. doi: 10.1038/jid.2015.179

PMCID:: PMC4567955

Abstract Article PDF–1.8M

Select item 451137310.

The genetic bases for non-syndromic hearing loss among Chinese

Xiao Mei Ouyang, Denise Yan, Hui Jun Yuan, Dai Pu, Li Lin Du, Don Yi Han, Xue Zhong Liu

J Hum Genet. Author manuscript; available in PMC 2015 Jul 22.

Published in final edited form as: J Hum Genet. 2009 Mar; 54(3): 131–140. Published online 2009 Feb 6. doi: 10.1038/jhg.2009.4

PMCID:: PMC4511373

Abstract Article PDF–564K

Select item 442002711.

Cochlin expression in vestibular endorgans obtained from Meniere’s disease patients

Audrey P. Calzada, Ivan A Lopez, Luis Beltran Parrazal, Akira Ishiyama, Gail Ishiyama

Cell Tissue Res. Author manuscript; available in PMC 2015 May 5.

Published in final edited form as: Cell Tissue Res. 2012 Nov; 350(2): 373–384. Published online 2012 Sep 20. doi: 10.1007/s00441-012-1481-x

PMCID:: PMC4420027

Abstract Article PDF–1.4M

Select item 436177512.

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

Hyun-Ju Cho, Hong-Joon Park, Maria Trexler, Hanka Venselaar, Kyu Yup Lee, Nahid G. Robertson, Jeong-In Baek, Beom Sik Kang, Cynthia C. Morton, Gert Vriend, László Patthy, Un-Kyung Kim

J Mol Med (Berl) Author manuscript; available in PMC 2015 Mar 17.

Published in final edited form as: J Mol Med (Berl). 2012 Nov; 90(11): 1321–1331. Published online 2012 May 19. doi: 10.1007/s00109-012-0911-2