Results 21 to 30 of about 91,774 (254)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 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.Substantial advances have been achieved in the development of humanized mouse models, which have proven highly valuable in evaluating cancer immunotherapies and elucidating the mechanisms of infectious diseases. There is now a growing shift in research toward larger animal models—such as pigs—that offer greater physiological similarity to humans ...
Yanan Lyu, Yong‐Guang Yang, Zheng Hu
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
Caesarean section rates in England and Wales: investigating variation between maternity units [PDF]
In England and Wales, the Caesarean section (CS) rate is 21.5%, ranging from 6% to 66% between maternity units. The impact of a high CS rate on women's health and NHS resources is not clear.
Paranjothy, Shantini
core +1 more source
Arthritis &Rheumatology, EarlyView.Objective This nationwide descriptive study examined temporal trends in adverse pregnancy outcomes (APOs) and treatments in systemic lupus erythematosus (SLE) pregnancies in Sweden over 2003 to 2022. Methods Using nationwide Swedish registers, we identified 1,417 pregnancies of women with prevalent SLE and delivery dates in 2003 to 2022 and matched ...
Ngoc V. Nguyen +6 more
wiley +1 more source
British Journal of Clinical Pharmacology, EarlyView.Aims Paediatric pharmacokinetics differ significantly from adults due to age‐related physiological changes, necessitating precise dose adjustments. However, data on therapeutic drug monitoring (TDM) implementation in paediatric setting remain limited.
Gianluca Gazzaniga +20 more
wiley +1 more source
British Journal of Clinical Pharmacology, EarlyView.Aims While pregnancy‐related changes in phase I enzyme activity are well‐documented, less is known about the impact on phase II enzymes. This study aimed to test the hypothesis that changes in the pharmacokinetics (PK) of uridine 5′‐diphosphoglucuronosyltransferase (UGT) substrates during pregnancy result from altered enzyme expression or activity ...
William Saffaf +6 more
wiley +1 more source
Association Between Vaginal Birth After Cesarean Delivery and Primary Cesarean Delivery Rates [PDF]
, 2013 ObjectiveTo estimate the association between vaginal birth after cesarean delivery (VBAC) rates and primary cesarean delivery rates in California hospitals.MethodsHospital VBAC rates were calculated using birth certificate and discharge data from 2009 ...
Rosenstein, Melissa G +5 more
core +1 more source
Humans are not unique: difficult birth is common in placental mammals
Biological Reviews, EarlyView.ABSTRACT Human childbirth is widely presumed to be uniquely difficult and dangerous compared to birth in other mammals. Tight fetopelvic proportions can result in obstructed labour and contribute to high rates of maternal and neonatal mortality. Ideas summarised under the ‘obstetrical dilemma’ have contributed to this assumption by explaining difficult
Nicole D. S. Grunstra
wiley +1 more source