Results 221 to 230 of about 247,558 (284)

The molecular basis of KCNH1-related epileptic encephalopathy and the challenge of developing targeted therapeutics. [PDF]

Brain
Sundman AK, Jin S, Vadlamudi L, King GF.
europepmc   +1 more source

Interpreting pathways to discover cancer driver genes with Moonlight [PDF]

, 2020
al., et, Bailey, Matthew H., Colaprico, Antonio   +2 more
core   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Mutant p53: evolving perspectives. [PDF]

Genes Dev
Efe G, Cunningham K, Rustgi AK, Prives C, Manfredi JJ, Sánchez-Rivera FJ.   +5 more
europepmc   +1 more source

Genetic predisposition and the impact of missense genetic variants on the structural and functional protein dynamics in idiopathic pulmonary fibrosis. [PDF]

Lung India
Barney AM, Isaac B, Christopher DJ, Thangakunam B, Balaji J, Mohan VR, Christudass CS, Danda D, Danda S.   +8 more
europepmc   +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

Whole genome sequencing-based detection of extensively drug-resistant tuberculosis from Ethiopia. [PDF]

Commun Med (Lond)
Diriba G, Mollalign H, Meaza A, Getu M, Zerihun B, Alemu A, Dagne B, Abebaw Y, Weldemariam AG, Bashea C, Ali A, Seid G, Getahun M, Hailu M, Wondimu A, Getachew T, Kumsa A, Letta T, Liaulseged A, Abera NA, Abate Z, Alemu E, Challa F, Tadesse G, Abdella S, Tollera G, Dangisso MH.   +26 more
europepmc   +1 more source

Early life exploration behaviour and life‐history loci are colocalized in an adaptive genomic hotspot in Atlantic salmon

Journal of Animal Ecology, EarlyView.
The genetic architecture of phenotypic correlations offers insights into how natural selection operates in the wild. Two functional phenotypes in Atlantic salmon, early life exploration and age‐at‐maturity, are correlated at an adaptive genomic hotspot, but through distinct genetic markers (SNPs), ruling out causality.
Tutku Aykanat, Jaakko Erkinaro
wiley   +1 more source

Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins. [PDF]

Mol Genet Genomic Med
Wang Z, Long L, Bi H.
europepmc   +1 more source