Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature
about
Short and tall stature: a new paradigm emergesCatalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause DwarfismGrowth hormone significantly increases the adult height of children with idiopathic short stature: comparison of subgroups and benefit.Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutationsWhole exome sequencing to identify genetic causes of short statureRecent research on the growth plate: Recent insights into the regulation of the growth plateGenetic evaluation of short stature.Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.The Biology of StatureA Track Record on SHOX: From Basic Research to Complex Models and TherapyMolecular Physiology of Membrane Guanylyl Cyclase Receptors.Novel genetic cause of idiopathic short stature.High-resolution analysis of selection sweeps identified between fine-wool Merino and coarse-wool Churra sheep breeds.Catalytically active guanylyl cyclase-B requires glycosylation and mutations that inhibit this process cause dwarfism.Circulating osteocrin stimulates bone growth by limiting C-type natriuretic peptide clearance.Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.The Absence of Sensory Axon Bifurcation Affects Nociception and Termination Fields of Afferents in the Spinal Cord.Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families.Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.Rats deficient C-type natriuretic peptide suffer from impaired skeletal growth without early death.Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia.Emerging targeted drug therapies in skeletal dysplasias.Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
P2860
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P2860
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Heterozygous mutations in natr ...... ed as idiopathic short stature
@ast
Heterozygous mutations in natr ...... ed as idiopathic short stature
@en
Heterozygous mutations in natr ...... ed as idiopathic short stature
@en-gb
Heterozygous mutations in natr ...... ed as idiopathic short stature
@nl
type
label
Heterozygous mutations in natr ...... ed as idiopathic short stature
@ast
Heterozygous mutations in natr ...... ed as idiopathic short stature
@en
Heterozygous mutations in natr ...... ed as idiopathic short stature
@en-gb
Heterozygous mutations in natr ...... ed as idiopathic short stature
@nl
prefLabel
Heterozygous mutations in natr ...... ed as idiopathic short stature
@ast
Heterozygous mutations in natr ...... ed as idiopathic short stature
@en
Heterozygous mutations in natr ...... ed as idiopathic short stature
@en-gb
Heterozygous mutations in natr ...... ed as idiopathic short stature
@nl
P2093
P50
P921
P3181
P356
P1476
Heterozygous mutations in natr ...... ed as idiopathic short stature
@en
P2093
Ana J Docko
Elisangela P S Quedas
Ivo J P Arnhold
Mariana F A Funari
Naoko Amano
Tomonobu Hasegawa
P304
P3181
P356
10.1210/JC.2013-2142
P407
P577
2013-09-03T00:00:00Z