Results 51 to 60 of about 17,833 (262)

Chromosomal Abnormalities in Iranian Infertile Males who are Candidates for Assisted Reproductive Techniques [PDF]

open access: yesInternational Journal of Fertility and Sterility, 2007
Background: The present study offers our contribution on the topic by a retrospective analysis of the prevalence of chromosomal abnormalities in a population of Iranian infertile men attending assisted reproduction programs.Materials and Methods ...
iman salahshourifar   +3 more
doaj   +1 more source

Multi‐Omics Profiling Reveals Immunomodulatory and Pro‐Regenerative Effects of a Graphene Oxide–Collagen Scaffold in Massive Rotator Cuff Tears

open access: yesAdvanced Science, EarlyView.
A graphene oxide/collagen scaffold is developed for chronic massive rotator cuff tear repair. The scaffold improves compressive stability, supports reparative mesenchymal differentiation, and modulates the immune microenvironment. In chronic MRCT models, it reduces muscle degeneration, enhances tendon–bone regeneration, and improves functional recovery,
Renwen Wan   +24 more
wiley   +1 more source

A Non‐Canonical Role of SMAD4 in Regulating 3D Genome Architecture to Inhibit Lung Squamous Cell Carcinoma Development

open access: yesAdvanced Science, EarlyView.
SMAD4 is identified as a guardian of 3D genome architecture in lung squamous cell carcinoma. Loss of SMAD4 unleashes EP300 at chromatin loop anchors, strengthening enhancer–promoter looping and H3K27ac at the SOX2 locus to drive aberrant SOX2 activation and tumor cell proliferation.
Qian Tang   +33 more
wiley   +1 more source

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

open access: yesBMC Medical Genetics, 2012
Background The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)).
Hersmus Remko   +7 more
doaj   +1 more source

Expanded Hepatic Progenitor Cells Featured with Aggregation of α‐Synuclein Contribute to Pathologic Bile Duct Regeneration in Biliary Atresia

open access: yesAdvanced Science, EarlyView.
Expanded NCAM1+EpCAM+ hepatic progenitor cells in biliary atresia are characterized by aggregation of α‐synuclein. This pathological protein potentiates cellular susceptibility to GSH‐dependent redox dyshomeostasis, induces unstable biliary cell fate specification, and subsequently drives aberrant biliary regeneration.
Hua Xie   +12 more
wiley   +1 more source

Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

open access: yesMolecular Cytogenetics, 2011
Background Monosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found.
Kartapradja Hannie   +7 more
doaj   +1 more source

MIS12 Is Required for Kinetochore‐Microtubule Attachment in Oocyte Meiosis

open access: yesAdvanced Science, EarlyView.
A model depicting the role of MIS12 in K‐MT attachment during oocyte meiosis. The presence of MIS12 stabilizes bipolar K‐MT attachments by maintaining the function of NDC80 and its interaction with TUBB. This, in turn, promotes KNL1 assembly and subsequent SAC protein recruitment to kinetochores.
Jian Li   +9 more
wiley   +1 more source

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017

open access: yesActa Obstetricia et Gynecologica Scandinavica
Introduction In this register‐based study of pregnancies in Denmark, we assessed the associations between maternal age and the risk of fetal aneuploidies (trisomy 21, trisomy 18, trisomy 13, triploidy, monosomy X and other sex chromosome aberrations ...
Line Elmerdahl Frederiksen   +8 more
doaj   +1 more source

CHCHD10 Mitigates Alzheimer's Disease‐Related Phenotypes in Association With Epigenetic Remodeling in Directly Reprogrammed Neurons

open access: yesAdvanced Science, EarlyView.
CHCHD10 loss in Alzheimer's disease is associated with mitochondrial dysfunction, epigenomic disruption, and tau pathology. Restoration of CHCHD10 shifts DNA methylation toward a non‐disease state and reduces tau and amyloid pathology, with KATNAL2 acting as a downstream effector.
Teresa M. Thomas   +13 more
wiley   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

open access: yesAdvanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie   +20 more
wiley   +1 more source

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