Results 61 to 70 of about 65,497 (208)

Phase Separation of SF3B1 Serves as a Critical Post‐Transcriptional Regulator During Early Mouse Embryogenesis

open access: yesAdvanced Science, EarlyView.
Phase separation of SF3B1 acts as a key regulatory mechanism for dynamic alternative splicing throughout early mouse embryogenesis. Its absence triggers extensive splicing errors, which induce persistent DNA damage, defective cell cycle progression, and failed cell lineage commitment, and ultimately hinder the normal growth and development of ...
Kang Zhao   +15 more
wiley   +1 more source

Prion‐Like Protein LENG8‐Mediated Nucleation Drives Stress Granule Assembly

open access: yesAdvanced Science, EarlyView.
LENG8 is a newly identified stress granule (SG) nucleator required for SG assembly. Following stress, nuclear LENG8 granules disassemble, allowing LENG8 to translocate into the cytoplasm and form independent nucleation foci. These foci fuse with canonical early G3BP1/TIA1 seeds via LENG8‐TIA1 binding to drive SG maturation.
Mingxing Zhang   +6 more
wiley   +1 more source

A Metabolic‐Epigenetic Axis of AARS1/IGF2BP3‐K280 Lactylation Sustains Endometrial Cancer Stemness and Recurrence

open access: yesAdvanced Science, EarlyView.
Lactate‐driven endometrial cancer relapse is mediated by enzymatic protein modification. Elevated lactate levels activate AARS1, which catalyzes K280 lactylation of IGF2BP3, therefore stabilizing HMGA2 mRNA and promoting tumor stemness and recurrence.
Peng Jiang   +11 more
wiley   +1 more source

Targeting Macrophage‐Mediated Lymphatic Immunosuppression to Prevent Tumor Recurrence After Microwave Ablation

open access: yesAdvanced Science, EarlyView.
Incomplete microwave ablation induces animmunosuppressive microenvironment in tumor‐draining lymph nodes. An albumin‐based lipoprotein nanosystem enables coordinated delivery of immunomodulators to tumor‐draining lymph nodes and residual tumors, reverses post‐ablation immunosuppression, suppresses residual tumor growth, and promotes durable antitumor ...
Xuexia Shan   +14 more
wiley   +1 more source

An Adenoviral‐Vectored Tp0326 Vaccine Elicits Robust Functional Antibodies to Prevent Treponema pallidum Dissemination in a Rabbit Model

open access: yesAdvanced Science, EarlyView.
Vaccination promotes cellular infiltration into primary lesions and effectively inhibits T. pallidum dissemination to distal organs. Notably, transfer of lesion tissue from immunized animals fails to establish infection in naive recipients, confirming specific protective immunity.
Yinbo Jiang   +4 more
wiley   +1 more source

Impact of advanced paternal age on reproductive outcomes in preimplantation genetic testing cycles of young female: a retrospective cohort study

open access: yesFrontiers in Reproductive Health
IntroductionAlthough advanced paternal age (APA) is increasingly scrutinized in reproductive medicine, its independent impact on embryo development and clinical outcomes remains contentious, particularly when controlling for maternal age and embryo ...
Nana Kong   +22 more
doaj   +1 more source

Direct Single-Cell Analysis of Human Polar Bodies and Cleavage-Stage Embryos Reveals No Evidence of the Telomere Theory of Reproductive Ageing in Relation to Aneuploidy Generation

open access: yesCells, 2019
Reproductive ageing in women, particularly after the age of 35, is associated with an exponential increase in the proportion of chromosomally abnormal oocytes produced.
Kara Turner   +4 more
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco   +6 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice   +10 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source

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