Results 201 to 210 of about 2,902,010 (219)

A Coding Single Nucleotide Polymorphism in β2-Glycoprotein I (APOH) is Associated with Increased Autoantibody Levels but Reduced Venous Thromboembolism Risk. [PDF]

Arthritis Rheumatol
Lalaurie C, Liu L, Khan A, Wang C, Rich SS, Barr RG, Bernstein EJ, Kiryluk K, McDonnell T, Luo Y.   +9 more
europepmc   +1 more source

Prostate Cancer Development, Progression, and Therapy

MedComm – Oncology, Volume 5, Issue 3, September 2026.
This review provides an integrated overview of prostate cancer development, progression, and therapy, spanning historical milestones, molecular mechanisms, advanced research models, and emerging therapeutic strategies. It highlights recent advances in precision diagnosis, lineage plasticity, therapy resistance, and next‐generation treatments for ...
Xin Jin, Zicheng Xiao, Zexian Ding, Wei Li, Ruijiang Zeng, Yujun Shuai, Weimin Ci, Dan Xia, Xu Zhang, Haojie Huang   +9 more
wiley   +1 more source

X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing. [PDF]

BMC Pediatr
Jo HY, Kim YM, Kim H, Cho YJ, Cheon CK.
europepmc   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

The afterlife of a horizontally transferred gene: Expansion and functional diversification of a C1A peptidase in wild Hordeum species

The Plant Genome, Volume 19, Issue 3, September 2026.
Abstract Horizontal gene transfer (HGT) can accelerate plant adaptation, but the evolutionary fate of newly acquired nuclear genes is often unclear. Here, we analyzed a papain‐like cysteine peptidase horizontally transferred from Panicoideae to wild Hordeum (Poaceae). Using chromosome‐level assemblies of 21 diploid Hordeum species, we assessed presence/
Václav Mahelka, Petra Caklová, Radim Čegan, Simón Villanueva‐Corrales, Jiřina Josefiová, Jana Kneřová, David Kopecký, Michaela Nagy‐Nejedlá, Marek Szecówka, Karol Krak   +9 more
wiley   +1 more source

Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families. [PDF]

J Mol Med (Berl)
Oziębło D, Leja ML, Gan N, Bałdyga N, Toliat MR, Budde BS, Skarżyński H, Ołdak M.   +7 more
europepmc   +1 more source

Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome. [PDF]

Hum Genomics
Kovalskaia VA, Maslennikov DN, Svirepova KA, Tabakov VY, Tsabai PN, Shchoka EV, Beskorovainiy NS, Shubina J, Trofimov DY, Ryzhkova OP.   +9 more
europepmc   +1 more source

A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20. [PDF]

Genes (Basel)
Misceo D, Strømme P, Sundaram AYM, Bjørnstad PM, Strand ME, Chawla MS, Frengen E.   +6 more
europepmc   +1 more source

Genome and transcriptome sequencing reveal pathogenic activation of a pseudoexon in <i>PKD1</i> via a de novo-common variant complex allele. [PDF]

Genet Med Open
Han ST, Rehman AU, Srinivasa ST, Lam A, Ficurilli M, Felice V, Krithivasan P, Phadke S, Abhyankar A, Bergstrom K, Bassetti JA, Jobanputra V.   +11 more
europepmc   +1 more source

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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

Genes, 2021
Sylvain Hanein, Mohammed Zarhrate, Jean-Michel Rozet   +2 more
exaly