Results 151 to 160 of about 715,750 (339)

Identification of SNPs in TG and EDG1 genes and their relationships with carcass traits in Korean cattle (Hanwoo) [PDF]

open access: yes, 2012
Thyroglobulin (TG) gene was known to be regulated fat cell growth and differentiation and the endothelial differentiation sphingolipid G-protein-coupled receptor 1 (EDG1) gene involves blood vessel formation and known to be affecting carcass traits ...
Cahyadi, Muhammad   +4 more
core  

Disrupting Lipid Raft Microdomains to Block Polyploid Giant Cancer Cell Budding and Enhance Radiotherapy Response

open access: yesAdvanced Science, EarlyView.
Radiation induces polyploid giant cancer cells (PGCCs) that regenerate tumors through virus‐like budding. This process depends on a SNCG–FLOT2–CHMP4B signaling axis functioning in lipid raft microdomains. Disrupting these domains using statins or anti‐PCSK9 antibodies blocks PGCC budding, suppresses tumor repopulation, and enhances radiotherapy ...
Zheng Deng   +20 more
wiley   +1 more source

Influence of rs1080985 single nucleotide polymorphism of the CYP2D6 gene on response to treatment with donepezil in patients with Alzheimer’s disease

open access: yesNeuropsychiatric Disease and Treatment, 2013
Aleksandra Klimkowicz-Mrowiec,1 Pawel Wolkow,2 Malgorzata Sado,3 Anna Dziubek,3 Joanna Pera,1 Tomasz Dziedzic,1 Andrzej Szczudlik,1 Agnieszka Slowik1 1Department of Neurology, Jagiellonian University, School of Medicine, Botaniczna, 2Department of ...
Klimkowicz-Mrowiec A   +7 more
doaj  

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

open access: yesAdvanced Science, EarlyView.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei   +17 more
wiley   +1 more source

A Subset of Pro‐inflammatory CXCL10+ LILRB2+ Macrophages Derives From Recipient Monocytes and Drives Renal Allograft Rejection

open access: yesAdvanced Science, EarlyView.
This study uncovers a recipient‐derived monocyte‐to‐macrophage trajectory that drives inflammation during kidney transplant rejection. Using over 150 000 single‐cell profiles and more than 850 biopsies, the authors identify CXCL10+ macrophages as key predictors of graft loss.
Alexis Varin   +16 more
wiley   +1 more source

A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.

open access: yesAmerican Journal of Human Genetics, 2004
A. Begovich   +27 more
semanticscholar   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

open access: yesAdvanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling   +17 more
wiley   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss   +8 more
wiley   +1 more source

Treg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie   +9 more
wiley   +1 more source

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