Results 51 to 60 of about 4,265,740 (294)

Paternal Sperm Gnas‐ICR Epigenetic Programming Contributes to PPP‐Like Phenotypes in Female Offspring

open access: yesAdvanced Science, EarlyView.
A paternal glucocorticoid–sperm Gnas‐ICR axis is linked to ovarian endocrine programming in female offspring. Paternal preconception caffeine exposure elevates corticosterone, promotes sperm Gnas‐ICR hypermethylation, and is associated with ovarian Gnas upregulation, cAMP/PKA/CREB–StAR activation, enhanced estradiol synthesis, and PPP‐like phenotypes ...
Jing Huang   +4 more
wiley   +1 more source

Human Foetal Neuroblasts Exhibit BK Channel‐Dependent Membrane Voltage Oscillations upon Depolarization

open access: yesAdvanced Science, EarlyView.
Primary cultures of neuroblasts isolated from the nucleus basalis of Meynert of 12‐weeks‐old human foetuses were prepared. Whole‐cell patch‐clamp recordings were performed by injecting a depolarizing stimulus current (+500 pA; 500 ms), and the membrane voltage recorded; this stimulus current evoked periodic‐like oscillations in membrane voltage ...
Elisabetta Coppi   +9 more
wiley   +1 more source

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

open access: yesAdvanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni   +17 more
wiley   +1 more source

Long Noncoding RNA PCALRx Interacts with Pyruvate Carboxylase to Drive Multi‐Organ Developmental Toxicity in Zebrafish Embryos Exposed to Amoxicillin

open access: yesAdvanced Science, EarlyView.
Embryonic amoxicillin exposure disrupts multi‐organ development in zebrafish larvae through a lncRNA–metabolic enzyme regulatory axis. PCALRx associates with pyruvate carboxylase, promotes PC protein ubiquitination, and impairs mitochondrial energy metabolism, while vitamin B1 partially restores PC‐centered metabolic function and developmental outcomes.
Yixue Yao   +5 more
wiley   +1 more source

Repurposing a Small Molecule Plant Hormone as a Tunable ON‐Switch for CAR‐T Cell Immunotherapy

open access: yesAdvanced Science, EarlyView.
By engineering a receptor system integrating the plant auxin receptor AFB1 with its co‐receptor IAA7, we enable ligand‐dependent interactions triggered by the plant hormone auxins. This design allows rapid, reversible, and dose‐dependent T cell activation, resulting in potent cytotoxicity against B‐cell lymphoma in vitro and in vivo.
Hongxiang Zeng   +16 more
wiley   +1 more source

Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review

open access: yesBMC Medical Genomics
Background Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its application has gradually expanded from ...
Qing Lin   +9 more
doaj   +1 more source

NICE: A Two‐Step Non‐Invasive Framework for Embryo cfDNA Read Enrichment and Quality Assessment

open access: yesAdvanced Science, EarlyView.
The non‐invasive NICE framework, built on an ensemble stacking machine learning model, prioritizes embryos by analyzing cell‐free DNA from spent culture medium. By integrating multimodal signals, including genomic and epigenetic profiles, this automated approach standardizes morphological assessment without human bias, paving the way for more precise ...
Xueya Zhou   +6 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas   +6 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston   +6 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

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