Results 101 to 110 of about 69,264 (288)

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane   +4 more
wiley   +1 more source

Geography, Insolation, and Institutional Change in 19th Century African-American andWhite Stature in Southern States [PDF]

open access: yes
The use of height data to measure living standards is now a well-established method in the economic literature. While much is known about 19th century black legal and material conditions, less is known about how 19th century biological conditions were ...
Scott A. Carson
core  

Faster growing and more functionally diverse: global change alters functional trait composition of mountain plant communities in the European Alps

open access: yesEcography, EarlyView.
Understanding how global change reshapes mountain plant communities is essential for predicting biodiversity and ecosystem function in a warming world. Using resurvey data from over 1400 non‐forest vegetation plots across the European Alps, we show that community‐weighted means of key functional traits capturing important dimensions of plant ecological
Sergey Rosbakh   +2 more
wiley   +1 more source

Body Composition Changes and Catch-up Growth in Pre-pubertal Children with Short Stature: A Longitudinal Retrospective Cross-sectional Cohort Study

open access: yesJCRPE
Objective: Predicting whether children with pre-pubertal short stature will achieve catch-up growth to a normal height or remain short remains a clinical challenge.
Dohyun Chun   +3 more
doaj   +1 more source

Treatment of short stature and growth hormone deficiency in children with somatotropin (rDNA origin)

open access: yes, 2008
Dana S HardinOhio State University and Columbus Children’s Hospital, Columbus, Ohio, USAAbstract: Somatotropin (growth hormone, GH) of recombinant DNA origin has provided a readily available and safe drug that has greatly improved management of
Dana S Hardin
core  

Insights into ANKRD11‐related epilepsy from 163 people

open access: yesEpilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su   +6 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris   +4 more
wiley   +1 more source

Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes

open access: yesXiehe Yixue Zazhi
Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
XU Kexin   +5 more
doaj   +1 more source

Short stature, primary care approach and diagnosis

open access: yes, 2022
The following review article main objective seeks to provide an approach from a health care first level institution, of one of the mostfrequent queries in pediatrics and general medicine, stunted growth.
Gómez-Tarazona, Carlos A.   +1 more
core  

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska   +4 more
wiley   +1 more source

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