Results 171 to 180 of about 131,210 (257)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Enhancing Diabetes Management in Remote Regions: Insulin Pump Adaption and Safety in the Faroe Islands. [PDF]

AACE Endocrinol Diabetes
Andreassen J, Nikontovic A, Iversen EM, Borðoy RÁF, Rasmussen P, Petersen MS, Johannesen HL.   +6 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Effect of short-term intensive insulin pump therapy on serum endotrophin levels in patients with newly diagnosed type 2 diabetes. [PDF]

Front Endocrinol (Lausanne)
Li Y, Gui X, Weng Y, Xun L, Yu W, Xiang C, Qi X, Wang X, Bai F.   +8 more
europepmc   +1 more source

Time‐course characterization of intraocular pressure in murine steroid‐induced ocular hypertension: Effects of route, schedule, and concentration

Animal Models and Experimental Medicine, EarlyView.
Steroid‐induced ocular hypertension is a useful mouse model for glaucoma, but published work rarely quantifies how route, dose, and schedule shape the intraocular pressure (IOP) time‐course—hindering reproducibility and forcing labs to pilot protocols.
Nicholas Y. Q. Tan, Sai Bo Bo Tun, Hla Myint Htoon, Veluchamy Amutha Barathi, Tina T. Wong   +4 more
wiley   +1 more source

Developing and Evaluating a Natural Language Processing Algorithm to Detect Insulin Pump and Continuous Glucose Monitor Use in Electronic Health Records of Patients with Type 1 Diabetes. [PDF]

Diabetes Technol Ther
Everett E, Tiu RA, Zhu B, Feng J, Jackson N, Graham J, Ipp E, Mathioudakis N, Bui AAT, Moin T.   +9 more
europepmc   +1 more source

Comment on “GLM7 – A Novel Composite Glycolipid Index Derived from Routine Health Indicators for Enhanced Diagnosis and Prediction of Multimorbidity”

Advanced Science, EarlyView.
Peikai Sun, Zhipeng Fan, Lei Li
wiley   +1 more source

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, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Changes to insulin requirements over time with semaglutide in adults with type 1 diabetes on insulin pump therapy: A post-hoc analysis of a double-blinded, randomised, crossover trial. [PDF]

Diabetes Obes Metab
Pasqua MR, Tsoukas MA, Haidar A.
europepmc   +1 more source

Sex as a biological variable in nonclinical studies: Bridging scientific rigor, animal welfare, and regulatory expectations

Animal Models and Experimental Medicine, EarlyView.
Sex as a biological variable (SABV) is a critical determinant of pharmacokinetics, pharmacodynamics, and toxicity in nonclinical studies. This review highlights how inappropriate neglect of sex differences compromises animal welfare, scientific reproducibility, and regulatory compliance.
Kenta Onuma, Masaki Watanabe, Nobuya Sasaki   +2 more
wiley   +1 more source