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Missense mutation

Sperm parameters and mitochondrial DNA sequence variants among patients at a fertility clinic in Ghana

Bartholomew Dzudzor, Bismarck Bimah, Vincent Amarh, Augustine Ocloo

published 15 Jun 2021

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Loss-of-function of Fbxo10, encoding a post-translational regulator of BCL2 in lymphomas, has no discernible effect on BCL2 or B lymphocyte accumulation in mice

Etienne Masle-Farquhar, Amanda Russell, Yangguang Li, Fen Zhu, Lixin Rui, Robert Brink, Christopher C. Goodnow

published 29 Apr 2021

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Lack of collagen α6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation

Shaoying Tang, Tomoko Yonezawa, Yukihide Maeda, Mitsuaki Ono, Takahiro Maeba, Toru Miyoshi, Ryusuke Momota, Yasuko Tomono, Toshitaka Oohashi

published 13 Apr 2021

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Whole-genome sequencing of SARS-CoV-2 reveals the detection of G614 variant in Pakistan

Massab Umair, Aamer Ikram, Muhammad Salman, Adnan Khurshid, Masroor Alam, Nazish Badar, Rana Suleman, Faheem Tahir, Salmaan Sharif, Joel Montgomery, Shannon Whitmer, John Klena

published 23 Mar 2021

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Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population

Fadi S. Saadeh, Rami Z. Morsi, Abdallah El-Kurdi, Georges Nemer, Rami Mahfouz, Maya Charafeddine, Jessica Khoury, Marwan W. Najjar, Pierre Khoueiry, Hazem I. Assi

published 25 Nov 2020

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Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein

Francisco R. Fields, Niraja Suresh, Morgan Hiller, Stefan D. Freed, Kasturi Haldar, Shaun W. Lee

published 05 Nov 2020

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Conserved mammalian modularity of quantitative trait loci revealed human functional orthologs in blood pressure control

Alan Y. Deng, Annie Ménard

published 23 Jul 2020

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Characterisation of ACP5 missense mutations encoding tartrate-resistant acid phosphatase associated with spondyloenchondrodysplasia

Janani Ramesh, Latha K. Parthasarathy, Anthony J. Janckila, Farhana Begum, Ramya Murugan, Balakumar P. S. S. Murthy, Rif S. El-Mallakh, Ranga N. Parthasarathy, Bhuvarahamurthy Venugopal

published 26 Mar 2020

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HLA class I restricted epitopes prediction of common tumor antigens in white and East Asian populations: Implication on antigen selection for cancer vaccine design

Wei Hu, Meifang He, Liangping Li

published 27 Feb 2020

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Novel EGFR ectodomain mutations associated with ligand-independent activation and cetuximab resistance in head and neck cancer

Sindhu Nair, Hoa Q. Trummell, Rajani Rajbhandari, Nanda K. Thudi, Susan E. Nozell, Jason M. Warram, Christopher D. Willey, Eddy S. Yang, William J. Placzek, James A. Bonner, Markus Bredel

published 18 Feb 2020

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Two novel mutations in MSX1 causing oligodontia

Le Yang, Jia Liang, Haitang Yue, Zhuan Bian

published 08 Jan 2020

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Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

Xiaodong Jiao, Shahid Y. Khan, Haiba Kaul, Tariq Butt, Muhammad Asif Naeem, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

published 09 Dec 2019

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Disease-associated mutations in human TUBB3 disturb netrin repulsive signaling

Qiangqiang Shao, Tao Yang, Huai Huang, Tanushree Majumder, Bhakti Ajit Khot, Mohammad Masoudian Khouzani, Farrah Alarmanazi, Yasmin K. Gore, Guofa Liu

published 21 Jun 2019

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