Results 151 to 160 of about 57,963 (216)
Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe +3 more
wiley +1 more source
Difficult Management of a Rare Case of Distal Vaginal Atresia in an Adolescent. [PDF]
Harou K, Benaissa I, Abdou A, Soumani A.
europepmc +1 more source
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
wiley +1 more source
Late-Stage Diagnosis of Biliary Atresia in Rural America. [PDF]
Khan S +3 more
europepmc +1 more source
A Life Worth Sustaining? Bestowed Worth and Pediatric Care
Abstract When parents request life‐sustaining treatments for children who suffer from profound neurocognitive disabilities or are at the end of life, the typical ethics advice for clinicians is to accommodate the request. It can be unclear what interests such children have, and being unable to assess those interests, a clinician will tend to honor ...
Daniel T. Kim, Xiang Yu
wiley +1 more source
This review traces the evolution of functional biliary stents, outlining the paradigm shift from “active intervention” strategies that target stent failure to next‐generation “enabling platforms.” These platforms leverage biodegradable materials, 3D/4D printing, and smart sensors to achieve personalized, regenerative, and theranostic solutions ...
Muhan Li +4 more
wiley +1 more source
ABSTRACT Stem cells and their derived extracellular vesicles (EVs) offer hope for functional reconstruction and fertility in premature ovarian insufficiency (POI) caused by gonadotoxic drugs. However, the clinical application of EVs is impeded by their instability, limited tissue penetration, and lack of targeted delivery to ovarian injury sites. Here,
Yaoqin Mu +7 more
wiley +1 more source
Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation. [PDF]
Stölzel U +5 more
europepmc +1 more source
Hemidesmosome Mutations Contribute to the Onset and Severity of Acquired Autoimmune Bullous Diseases
This study examined hemidesmosome assembly‐related genes in pemphigoid diseases, revealing variants linked to disease onset and severity. Functional analyses, including Caenorhabditis elegans models, Ker‐CT transcriptomics, human proteomics, etc., demonstrated that ITGA6 mutations destabilize hemidesmosomes, disrupt dermal–epidermal adhesion, and ...
Shan Cao +19 more
wiley +1 more source
Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure. [PDF]
Khurayzi T, Abdalla H, Ardi K.
europepmc +1 more source

