Results 271 to 280 of about 241,061 (333)

A Critical Functional Missense Mutation (T117M) in Sheep MC4R Gene Significantly Leads to Gain-of-Function. [PDF]

Animals (Basel)
Zhao Z, Yang Y, Liu P, Yan T, Li R, Pan C, Li Y, Lan X.   +7 more
europepmc   +1 more source

Sequential addition of temperature-sensitive missense mutations into the PB2 gene of influenza A transfectant viruses can effect an increase in temperature sensitivity and attenuation and permits the rational design of a genetically engineered live influenza A virus vaccine

, 1995
Kanta Subbarao, E J Park, C M Lawson, A Y Chen, Brian R. Murphy   +4 more
openalex   +1 more source

Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery, Chinese Medical Association; Society of Audiology and Vestibular Medicine, China International Exchange and Promotive Association for Medical and Health Care, Hong‐Yang Wang, Guo‐Hui Nie, Xiao‐Nan Wu, Ding‐Jun Zha, Tao Shi, Hai‐Bo Shi, Yong Feng, Wen‐Yan Li, Hai‐Hong Liu, Qing Zhang, Xiao‐Wei Chen, Xia Gao, Yong‐Xin Li, Lu Ma, Jin Li, Dan‐Yang Li, Xiao‐Long Zhang, Meng‐Tao Song, Xin Zhou, Lan Lan, Lan Yu, Meng‐Qian Zhang, Wei Shi, Fen Xiong, Lin‐Yi Xie, Guo‐Hui Chen, Kai‐Li Wu, Xiao‐Qian Ren, Qiu‐Jing Zhang, Ming‐Hui Zhao, Zi‐Yi Chen, Fei Ji, Jiao Zhang, Jing Guan, Da‐Yong Wang, Ren‐Jie Chai, Xin Jin, Hua‐Wei Li, Shi‐Ming Yang, Shan‐Kai Yin, Qiu‐Ju Wang   +43 more
wiley   +1 more source

Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH. [PDF]

Front Genet
Liu Y, Fan X, Qian K, Wu C, Zhang L, Yuan L, Man Z, Wu S, Li P, Wang X, Li W, Zhang Y, Sun S, Yu C.   +13 more
europepmc   +1 more source

Multilocus sequence typing of the invasive pest Halyomorpha halys (Hemiptera: Pentatomidae) and associated endosymbiont reveals unexplored diversity

Insect Science, EarlyView.
A multilocus sequence typing approach is proposed to explore Halymorpha halys genetic diversity, taking into consideration both insect nuclear markers and markers from the gut symbiont “Candidatus Pantoa carbekii.” Increased information was revealed regarding the number of distinct holobiont haplotypes in native and invasive populations of the pest ...
Matteo Dho, Matteo Montagna, Chenxi Liu, Giulia Magoga, Giobbe Forni, Alberto Alma, Elena Gonella   +6 more
wiley   +1 more source

A missense mutation in human INSC causes peripheral neuropathy. [PDF]

EMBO Mol Med
Yeh JY, Chao HC, Hong CL, Hung YC, Tzou FY, Hsiao CT, Li JL, Chen WJ, Chou CT, Tsai YS, Liao YC, Lin YC, Lin S, Huang SY, Kennerson M, Lee YC, Chan CC.   +16 more
europepmc   +1 more source

A complete deficiency of coagulation factor XIII A‐subunit due to a novel compound heterozygote of Ser 413 Leu missense and an nt 389 (ins G) frameshift mutation

, 1999
Toshiyuki Niiya, Haruhiko Osawa, Shiro Bando, Yoshiko Oto, Kiriko Tokuda, Namiko Takeda, Maki Sumioka, Mitsuharu Murase, Kaichi Kida, Hideichi Makino   +9 more
openalex   +1 more source

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype

Annals of Human Genetics, EarlyView.
ABSTRACT Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) from birth and as a consequence have an elevated morbidity and mortality due to the development of coronary heart disease (CHD).
Steve Eric Humphries, Marta Futema
wiley   +1 more source

A novel missense mutation of CCDC34 causes male infertility with oligoasthenoteratozoospermia in a consanguineous Pakistani family. [PDF]

Asian J Androl
Ahmad N, Yang ML, Zeb A, Zhou JT, Zubair M, Abbas T, Jiang XH, Zhang YW, Zhang H, Shah W, Shi QH.   +10 more
europepmc   +1 more source

A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.

, 1995
Matthias Vorgerd, Sigrid Fuchs, Martin Tegenthoff, J.‐P. Malin   +3 more
openalex   +1 more source