Polymorphism of SERF2, the gene encoding a heat-resistant obscure (Hero) protein with chaperone activity, is a novel link in ischemic stroke DOI Creative Commons
А. Е. Белых, Vladislav O. Soldatov,

T. A. Stetskaya

et al.

IBRO Neuroscience Reports, Journal Year: 2023, Volume and Issue: 14, P. 453 - 461

Published: May 10, 2023

Ischemic stroke (IS) is one of the most serious cardiovascular events associated with high risk death or disability. The growing body evidence highlights molecular chaperones as especially important players in pathogenesis disease. Since six small proteins called "Hero" have been recently identified a novel class we aimed to evaluate whether SNP rs4644832

Language: Английский

“SERBP1 (Hero45) is a Novel Link with Ischemic Heart Disease Risk: Associations with Coronary Arteries Occlusion, Blood Coagulation and Lipid Profile” DOI
V. N. Shilenok, Ksenia Kobzeva, Olga Bushueva

et al.

Cell Biochemistry and Biophysics, Journal Year: 2025, Volume and Issue: unknown

Published: April 3, 2025

Language: Английский

Citations

0
Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome DOI Creative Commons

Sara González-Muñoz,

Long Yi, Andrea Guzmán‐Jiménez

et al.

Communications Biology, Journal Year: 2025, Volume and Issue: 8(1)

Published: April 5, 2025

Non-obstructive azoospermia, a severe form of male infertility caused by spermatogenic failure (SPGF), has largely unknown genetic basis across ancestries. To our knowledge, this is the first trans-ethnic meta-analysis genome-wide association studies on SPGF, involving 2255 men with idiopathic SPGF and 3608 controls from European Asian populations. Using logistic regression inverse variance methods, we identify two significant associations Sertoli cell-only (SCO) syndrome, most extreme phenotype. The G allele rs34915133, in major histocompatibility complex class II region, significantly increases SCO risk (P = 5.25E-10, OR 1.57), supporting potential immune-related cause. Additionally, rs10842262 variant SOX5 gene region also marker 5.29E-09, 0.72), highlighting key role reproductive function. Our findings reveal shared factors ancestries provide insights into molecular mechanisms underlying SCO.

Language: Английский

Citations

0
Rare variant association testing in the non-coding genome DOI
Ozvan Bocher, Emmanuelle Génin

Human Genetics, Journal Year: 2020, Volume and Issue: 139(11), P. 1345 - 1362

Published: June 4, 2020

Language: Английский

Citations

24
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group DOI Creative Commons
Emmanuelle Masson, Wenbin Zou, Na Pu

et al.

Pancreatology, Journal Year: 2023, Volume and Issue: 23(5), P. 491 - 506

Published: April 20, 2023

Language: Английский

Citations

9
Polymorphism of SERF2, the gene encoding a heat-resistant obscure (Hero) protein with chaperone activity, is a novel link in ischemic stroke DOI Creative Commons
А. Е. Белых, Vladislav O. Soldatov,

T. A. Stetskaya

et al.

IBRO Neuroscience Reports, Journal Year: 2023, Volume and Issue: 14, P. 453 - 461

Published: May 10, 2023

Ischemic stroke (IS) is one of the most serious cardiovascular events associated with high risk death or disability. The growing body evidence highlights molecular chaperones as especially important players in pathogenesis disease. Since six small proteins called "Hero" have been recently identified a novel class we aimed to evaluate whether SNP rs4644832

Language: Английский

Citations

9