Results 131 to 140 of about 108,085 (245)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
Identification of metabolism-related subtypes and feature genes of pre-eclampsia
Scientific ReportsThe heterogeneity of pre-eclampsia (PE) complicates its pathogenesis, which remains incompletely understood. Emerging evidence indicates a significant role of metabolism in the pathophysiology of PE.
Zhihui Xiong +3 more
doaj +1 more source
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.The pathogenesis of stress urinary incontinence (SUI) is intimately associated with injury to the external urethral sphincter (EUS). In this study, we established an SUI model induced by double vaginal distension and demonstrated that metformin treatment activated the AMPK signaling in the EUS tissue.
Yuting Xu +7 more
wiley +1 more source
The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy
Annals of Neurology, EarlyView.Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva +13 more
wiley +1 more source
Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection
The Anatomical Record, EarlyView.Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson +6 more
wiley +1 more source
Hepatology, EarlyView., 2022 Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel +93 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract The preauricular sulcus has long been debated as a pelvic feature variably attributed to obstetric stress, ligamentous traction, and broader biomechanical processes. To clarify its determinants, we analyzed 409 adult individuals from three archeological and one early modern skeletal collection from the Iberian Peninsula, integrating graded ...
Rebeca García‐González +5 more
wiley +1 more source