Results 171 to 180 of about 581,861 (308)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Angewandte Chemie, EarlyView.The second‐generation crystalline sponge method allows structurally diverse molecular guests to crystallize under standardized crystallization conditions. The key is the predominant packing type of cages and anions in crystals. ABSTRACT Crystallization is typically highly sensitive to even minor structural differences in target molecules.
Wei He, Hiroki Takezawa, Makoto Fujita
wiley +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld +9 more
wiley +1 more source
Trinuclear Heptamethine Dyes for Shortwave Infrared In Vivo Imaging
Angewandte Chemie, EarlyView.The reactivity of cyclopentenyl‐bridged polymethine dyes is leveraged to synthesize shortwave infrared (SWIR)‐emissive di‐ and trinuclear polymethine dyes. Chromenylium‐ and flavylium‐based trinuclear dyes demonstrate increased nucleophilic stability, minimal aggregation in micelle formulations, and notable lymph node accumulation.
Cesar A. Garcia +6 more
wiley +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij +5 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
Editorial: Innovative Models in Bone Biology: What can be Learned From Rare Bone Diseases?
Frontiers in Endocrinology, 2022 de Vries, Teun J. +2 more
openaire +6 more sources
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
Rare anatomical localizations of hydatid cysts (2020-2025): Narrative review of presentation, imaging, and management. [PDF]
Turk J SurgZülfikaroğlu B, Akgül Ö, Dinç T.
europepmc +1 more source