Molecular physiology of membrane guanylyl cyclase receptors

M Kuhn - Physiological reviews, 2016 - journals.physiology.org
cGMP controls many cellular functions ranging from growth, viability, and differentiation to
contractility, secretion, and ion transport. The mammalian genome encodes seven …

Short and tall stature: a new paradigm emerges

J Baron, L Sävendahl, F De Luca, A Dauber… - Nature Reviews …, 2015 - nature.com
In the past, the growth hormone (GH)–insulin-like growth factor 1 (IGF-1) axis was often
considered to be the main system that regulated childhood growth and, therefore …

Mechanisms in endocrinology: novel genetic causes of short stature

JM Wit, W Oostdijk, M Losekoot… - European Journal of …, 2016 - academic.oup.com
The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

[HTML][HTML] Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

NN Hauer, B Popp, E Schoeller, S Schuhmann… - Genetics in …, 2018 - Elsevier
Purpose Short stature is a common condition of great concern to patients and their families.
Mostly genetic in origin, the underlying cause often remains elusive due to clinical and …

Genetic evaluation of short stature

A Dauber, RG Rosenfeld… - The Journal of Clinical …, 2014 - academic.oup.com
Context: Genetics plays a major role in determining an individual's height. Although there
are many monogenic disorders that lead to perturbations in growth and result in short …

[HTML][HTML] Understanding nuclear receptor form and function using structural biology

F Rastinejad, P Huang, V Chandra… - Journal of …, 2013 - jme.bioscientifica.com
In mammals, secretin is a 27-amino acid peptide that was first studied in 1902 by Bayliss
and Starling from the extracts of the jejunal mucosa for its ability to stimulate pancreatic …

A track record on SHOX: from basic research to complex models and therapy

A Marchini, T Ogata, GA Rappold - Endocrine Reviews, 2016 - academic.oup.com
SHOX deficiency is the most frequent genetic growth disorder associated with isolated and
syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its …

Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations

O Nilsson, MH Guo, N Dunbar, J Popovic… - The Journal of …, 2014 - academic.oup.com
Context: Many children with idiopathic short stature have a delayed bone age. Idiopathic
short stature with advanced bone age is far less common. Objective: The aim was to identify …

Growth hormone therapy in children; research and practice–a review

PF Collett-Solberg, AAL Jorge… - Growth Hormone & IGF …, 2019 - Elsevier
Short stature remains the most common reason for referral to a pediatric Endocrinologist and
its management remains a challenge. One of the main controversies is the diagnosis of …

Multigene sequencing analysis of children born small for gestational age with isolated short stature

BL Freire, TK Homma, MFA Funari… - The Journal of …, 2019 - academic.oup.com
Context Patients born small for gestational age (SGA) who present with persistent short
stature could have an underlying genetic etiology that will account for prenatal and postnatal …