Results 111 to 120 of about 660,576 (241)

A synonymous mutation in PI4KA impacts the transcription and translation process of gene expression. [PDF]

Front Immunol, 2022
Zhang K, Kang L, Zhang H, Bai L, Pang H, Liu Q, Zhang X, Chen D, Yu H, Lv Y, Gao M, Liu Y, Gai Z, Wang D, Li X.   +14 more
europepmc   +1 more source

Genome-wide sequencing identifies a thermal-tolerance related synonymous mutation in the mussel, Mytilisepta virgata. [PDF]

Commun Biol, 2023
Tan Y, Ma CY, Li XX, Han GD, Dong YW.
europepmc   +1 more source

Protein Glutamylation: From Cytoskeleton to Signaling

Med Research, EarlyView.
Tubulin glutamylation, γ‐glutamylation, and nontubulin glutamylation are distinct yet interconnected post‐translational modifications that regulate diverse physiological and pathological processes, including cytoskeletal organization, cell cycle progression, immunity, metabolism, and disease development.
Jiayuan Chen, Yi Yuan, Qingquan Yu, Xinyue Wang, Hui Wang   +4 more
wiley   +1 more source

Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease. [PDF]

Hepatol Commun, 2022
Panzer M, Panzer M, Viveiros A, Schaefer B, Baumgartner N, Seppi K, Djamshidian A, Todorov T, Griffiths WJH, Schott E, Schuelke M, Eurich D, Stättermayer AF, Bomford A, Foskett P, Vodopiutz J, Stauber R, Pertler E, Morell B, Tilg H, Müller T, Kiechl S, Jimenez-Heredia R, Weiss KH, Hahn SH, Janecke A, Ferenci P, Zoller H.   +27 more
europepmc   +1 more source

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort

Movement Disorders, EarlyView.
Abstract Background DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.
César Luis Ávila, Mariam Isayan, Yasser Mecheri, Paula Saffie‐Awad, María Milagros Leila, Laurel A. Screven, Hampton Leonard, Maria Teresa Periñan, Sheila Yeboah, Kristin Levine, Mary B. Makarious, on behalf of the Global Parkinson's Genetics Program (GP2)   +11 more
wiley   +1 more source

Rare Dysplasia from a Synonymous Mutation in FGFR3 is Indistinguishable from Wild Type by Coding Sequence Analysis [PDF]

Fibroblast Growth Factor Receptor Three (FGFR3) is a receptor tyrosine kinase (RTK) and plays an important role in cellular processes such as cell proliferation, angiogenesis, differentiation, wound healing, and bone growth.
Geller, Stephen
core   +1 more source

BRAT1 gene compound heterozygous mutations causing lethal neonatal rigidity and multifocal seizure syndrome: a case report

Frontiers in Pediatrics
BackgroundBiallelic BRCA1-associated ataxia telangiectasia mutated activator 1 (BRAT1) gene mutations can result in lethal neonatal rigidity and multifocal seizure syndrome (RMFSL), characterized by refractory epilepsy, hypertonia, autonomic dysfunction,
Dong-Yuan Qin, Qin-Qin Tang, Dan Feng, Yan-Jun Song, Zi-Huan Cheng, Rui-Cong Ma, Ke Sun, Fan Wang   +7 more
doaj   +1 more source

Difference on prevalence of FTO rare non-synonymous mutation between boys and girls with obesity.

, 2013
Difference on prevalence of FTO rare non-synonymous mutation between boys and girls with obesity.
Peirong Yang (426615), Li Hong (426614), Ru-en Yao (426616), Qihua Fu (419021), Yongguo Yu (419019), Xiaodong Huang (1484986), Yiping Shen (102565), Yongnian Shen (419020), Juan Geng (426617), Yu Ding (54012), Juan Li (146180), Zhaojing Zheng (426613)   +11 more
core   +1 more source

Genomic insights into the local adaptation of spontaneous olive trees in the Mediterranean Basin highlight the need for conservation planning in the face of global change

PLANTS, PEOPLE, PLANET, EarlyView.
The Mediterranean Basin, a major biodiversity hotspot, is highly vulnerable to climate and global changes. Wild olive trees form an essential part of this landscape and hold strong ecological, cultural and socio‐economic significance. By examining how these trees responded to past climatic conditions, this study shows adaptation of olive trees to local
Lison Zunino, Gautier Sarah, Lorenzo Rocchetti, Bénédicte Rhoné, Alexandre Soriano, Gaëtan Droc, Pierre Mournet, Ahmed El Bakkali, Evelyne Costes, Bouchaib Khadari, Philippe Cubry   +10 more
wiley   +1 more source

Precision medicine in cancer: A comprehensive review of advanced cancer diagnosis technologies and personalized treatment strategies

Precision Medical Sciences, EarlyView.
The translational pipeline of precision medicine in clinical oncology. Schematic overview of the individualized cancer care workflow. (1) Input: Patient samples undergo multi‐omic profiling via NGS, single‐cell diagnostics, spatial maps, and epigenetic sequencing.
Asif Jan, Bushra Waheed, Rani Akbar, Daniel Dubwa   +3 more
wiley   +1 more source