Results 151 to 160 of about 307,774 (316)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi +6 more
wiley +1 more source
Angewandte Chemie, EarlyView.Molecular recognition guest binding can comprehensively modulate photoinduced charge‐transfer dynamics in the cyclophane host, including charge separation and recombination, via coherent superexchange and incoherent hopping. Unlike covalent donor–bridge–acceptor systems, this supramolecular approach avoids tedious syntheses and offers precise tuning of
Xueze Zhao +11 more
wiley +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
, 1995 Secalonic acid A, a yellow pigment from fungal metabolism, was isolated from the lichens Pseudoparmelia sphaerospora and P. hypomilta. From P. sphaerospora was also isolated the depsidone hypostictic acid.
Devincenzi, Izilda A. A. +2 more
core
Macular pigment evaluation using dual-wavelength fundus auto-fluorescence imaging
Introduction. Macular pigment plays an important role in the reduction of oxidative stress and in preventing retinal diseases. Quick and easy measurements of the macular pigment are essential in both clinical and research settings. Dual wavelength fundus
Patrik Rajs +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Daily insulin administration in streptozotocin‐induced diabetic rats prevented cardiac damage associated with diabetic cardiomyopathy, including hypertrophy, fibrosis, and expression of cell death markers, at 12 weeks. However, cyclophilin D, a marker of mitochondrial permeability transition pore‐opening‐associated cell death (necrosis), was observed ...
Tamara Sáez +5 more
wiley +1 more source