PMC Links for Protein (Select 32698930) - PMC - NCBI

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Items: 6

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 62021202.

Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment

Khurram Liaqat, Ilene Chiu, Kwanghyuk Lee, Imen Chakchouk, Paula B. Andrade-Elizondo, Regie Lyn P. Santos-Cortez, Shabir Hussain, Shoaib Nawaz, Muhammad Ansar, Muhammad Nasim Khan, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

J Hum Genet. Author manuscript; available in PMC 2019 Mar 3.

Published in final edited form as: J Hum Genet. 2018 Nov; 63(11): 1099–1107. Published online 2018 Sep 3. doi: 10.1038/s10038-018-0502-3

PMCID:: PMC6202120

Abstract Article PDF–738K

Select item 47868583.

Novel function of LHFPL2 in female and male distal reproductive tract development

Fei Zhao, Jun Zhou, Rong Li, Elizabeth A. Dudley, Xiaoqin Ye

Sci Rep. 2016; 6: 23037. Published online 2016 Mar 11. doi: 10.1038/srep23037

PMCID:: PMC4786858

Abstract Article PDF–2.0M

Select item 34096964.

Unique Transgenic Animal Model for Hereditary Hearing Loss

Maura Cosetti, David Culang, Sumankrishna Kotla, Peter O’Brien, Daniel F. Eberl, Frances Hannan

Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Ann Otol Rhinol Laryngol. 2008 Nov; 117(11): 827–833. doi: 10.1177/000348940811701106

PMCID:: PMC3409696

Abstract Article PDF–722K

Select item 25645845.

Mutations of human TMHS cause recessively inherited non‐syndromic hearing loss

M I Shabbir, Z M Ahmed, S Y Khan, Saima Riazuddin, A M Waryah, S N Khan, R D Camps, M Ghosh, M Kabra, I A Belyantseva, T B Friedman, Sheikh Riazuddin

J Med Genet. 2006 Aug; 43(8): 634–640. Published online 2006 Feb 3. doi: 10.1136/jmg.2005.039834

PMCID:: PMC2564584

Abstract Article PDF–1.8M

Select item 11423666.

A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice

Chantal M. Longo-Guess, Leona H. Gagnon, Susan A. Cook, Jian Wu, Qing Y. Zheng, Kenneth R. Johnson

Proc Natl Acad Sci U S A. 2005 May 31; 102(22): 7894–7899. Published online 2005 May 19. doi: 10.1073/pnas.0500760102

PMCID:: PMC1142366

Abstract Article PDF–516K

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