Results 231 to 240 of about 535,016 (293)

Cancer‐Like Fragmentomic Characteristics of Somatic Variants in Cell‐Free DNA

open access: yesAdvanced Science, EarlyView.
We report that in non‐cancerous subjects, cell‐free (cfDNA) molecules harboring somatic variants exhibit cancer‐like fragmentomic characteristics associated with clonal hematopoiesis. Importantly, these somatic variant‐associated fragmentomic aberrations are more pronounced in cancer patients. Leveraging such somatic variant‐associated signals in cfDNA,
Zhenyu Zhang   +12 more
wiley   +1 more source

Immunodeficiency associated with a deletion in the short arm of the X-chromosome.

open access: green, 1981
T Nurmi   +5 more
openalex   +1 more source

PFOS Disrupts Oocyte Maturation and Early Embryonic Development via Ovarian FOXK1 O‐GlcNAcylation in Mice

open access: yesAdvanced Science, EarlyView.
Perfluorooctane sulfonate (PFOS) exposure disrupts oocyte maturation and early embryonic development. This study elucidates the mechanism by which enhanced O‐GlcNAcylation of FOXK1 underlies the PFOS‐induced reduction of progesterone levels in granulosa cells and the disturbance of follicular microenvironment.
Shuwen Han   +16 more
wiley   +1 more source

Microglial response to amyloid-β pathology is modulated by X chromosome dosage

open access: yes
Arancibia-Carcamo IL   +9 more
europepmc   +1 more source

Parallel Genome‐Wide CRISPR Screens Reveal SORL1 and ZFYVE19 as Sequential Host Determinants of Salmonella Infection

open access: yesAdvanced Science, EarlyView.
To distinguish how Salmonella invades cells vs how it survives long‐term, a parallel CRISPR screening platform is developed. This approach reveals the host proteins that the bacterium exploits at different stages of infection. The study identifies SORL1 as a novel host factor for invasion and demonstrates that blocking it with an antibody effectively ...
Sehee Yun   +6 more
wiley   +1 more source

Cattle T2T X Chromosome: Insights into Natural Neocentromere Evolution

open access: yes
Low W   +14 more
europepmc   +1 more source

X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation. [PDF]

open access: yesJ Clin Immunol
Zhao R   +13 more
europepmc   +1 more source

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

open access: yesAdvanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang   +8 more
wiley   +1 more source

Meta‐GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility

open access: yesAdvanced Science, EarlyView.
This study incorporated 14 210 individuals to perform a GWAS meta‐analysis of six semen quality traits. The GWAS meta‐analysis identifies 234 GWAS loci associated with semen quality traits. The incorporation with a functional genomics resource explains potential genetic regulation of ∼40% GWAS signals underlying semen quality traits.
Qing Lin   +26 more
wiley   +1 more source

Aging activates escape of the silent X chromosome in the female mouse hippocampus. [PDF]

open access: yesSci Adv
Gadek M   +12 more
europepmc   +1 more source

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