Results 91 to 100 of about 3,413,614 (250)

Secretopathies emerge as a new class of neurocristopathies

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira   +3 more
wiley   +1 more source

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

A shining starlet: Nematostella vectensis as a model for developmental, regenerative, and comparative biology

open access: yesDevelopmental Dynamics, EarlyView.
Abstract The sea anemone, Nematostella vectensis, has been used as a model organism in developmental biology studies for many years. This estuarine species has the notable capacity to regenerate its full body plan from small pieces throughout life. Nematostella have been described as having a great degree of cellular plasticity.
Patrick A. Lewis   +3 more
wiley   +1 more source

Spatial variation in liana effects on host‐tree allometry and biomass in an intact tropical forest

open access: yesEcography, EarlyView.
Lianas are increasing in abundance across the tropics, yet local spatial variation in their effects on host‐tree allometry and biomass, and the drivers of this variation within forests, remain poorly understood. Using field inventory, drone photogrammetry, and terrestrial laser scanning (TLS) across a 50‐ha plot on Barro Colorado Island, Panama, we ...
Sruthi M. Krishna Moorthy   +9 more
wiley   +1 more source

Genetic evaluation of short stature

open access: yes, 2011
After a proper medical history, growth analysis and physical examination of a short child, followed by radiological and laboratory screening, the clinician may decide to perform genetic testing.
Wit, J.M.   +9 more
core   +1 more source

Global patterns of treeline predictability and the gap between the forest and the treeline

open access: yesEcography, EarlyView.
The alpine treeline is the highest elevation at which trees can grow, which is assumed to be controlled by temperature and globally predictable. However, many upper forest limits (UFLs) do not reach this elevation, due natural factors and human disturbance.
Erickson G. Urquiaga‐Flores   +2 more
wiley   +1 more source

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis

open access: yes, 2018
Abdulaziz Alsemari,1 Mohanned Alsuhaibani,2 Rawabi Alhathlool,1 Bayan Mamdouh Ali1 1Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; 2Department of Radiology, King Faisal Specialist Hospital and ...
Ali BM   +3 more
core  

The effects of short-stature-for-age on cardiovascular and metabolic health in children: a systematic review. [PDF]

open access: yes, 2019
Short stature has been associated with coronary heart disease in adults (Paajanen et al, 2010), but similar effects have not been established in children.
Nina Mendez (7244117)   +6 more
core   +2 more sources

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

open access: yesEpileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini   +6 more
wiley   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry   +23 more
wiley   +1 more source

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