Results 61 to 70 of about 17,833 (262)
Objective: Prenatal diagnosis of mos45,X/46,X,+mar is difficult in genetic counseling. Patients with the presence of a Y-derived marker may manifest male or female external genitalia. Here, we report a fetus with phenotypically male external genitalia of
Shu-Chin Chien +5 more
doaj +1 more source
Lipoic acid synthase (lias) can regulate α‐KG levels through lipoylation, thereby negatively regulating HIF‐1α protein levels via PHD under hypoixa. The Hap2 allele of lias exhibits lower expression levels than Hap1, leading to the accumulation of more HIF‐1α protein and thereby enhancing hypoxia tolerance. ABSTRACT Hypoxia stress seriously affects the
Jie Ding +7 more
wiley +1 more source
RLIM‐mediated SLC7A11 polyubiquitination is required for SPTBN2‐mediated trafficking and membrane localization of SLC7A11, which enables oligodendrocyte precursor cells to be resistant to ferroptosis and safeguards oligodendrocyte lineage progression and thus myelination.
Yuwei Li +8 more
wiley +1 more source
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang +11 more
wiley +1 more source
Background: There are evidences of association between occupational radiation exposure, cytogenetic alterations and the increase in cancer rates. It is known that the probability of carcinogenesis is greater in populations exposed to radiation, since ...
Sanaa A. El-Benhawy +4 more
doaj +1 more source
In TP53mut GBM cells, reduced P53 function is associated with increased TET1 expression. Genetic or pharmacological inhibition of TET1 correlates with genome fragility, including DNA damage, cellular senescence, telomere shortening, and reactive oxygen species accumulation, which may contribute to increased efficacy of antitumor therapy.
Zhuonan Pu +12 more
wiley +1 more source
The study establishes an immune‐cure (ICu) mouse model based on a TMEMed G422TN‐GBM system that faithfully recapitulates human TMEMed GBM. scRNA‐seq analysis reveals a Csmd3+ microglial subset with innate immune memory (IIM) potential that potently suppresses GBM growth, drives a TME cold‐to‐hot transition, and induces 100% ICu in long‐term survival ...
Hai‐Feng Jiang +12 more
wiley +1 more source
Proteogenomic characterization of cholangiocarcinoma
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng +18 more
wiley +1 more source
Ten cases with 46,XX testicular disorder of sex development: single center experience
Objective To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic.
Emre Can Akinsal +4 more
doaj +1 more source
NSD2 coordinates the neurogenic‐to‐gliogenic transition in the developing neocortex through H3K36me2‐dependent activation of EGFR–ERK signaling. Loss of NSD2 disrupts astroglial and oligodendroglial development, whereas ERK activation rescues gliogenic defects in vitro and in vivo.
Hanxue Chen +7 more
wiley +1 more source

