Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.

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http://www.wikidata.org/entity/Q35243490
Short and tall stature: a new paradigm emergesCatalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause DwarfismGenomic insights into growth and its disorders: an update.A 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.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.Skeletal overgrowth-causing mutations mimic an allosterically activated conformation of guanylyl cyclase-B that is inhibited by 2,4,6,-trinitrophenyl ATP.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.Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability: in Vivo and in Vitro Evidence.C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model
P2860

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.

Item
http://www.wikidata.org/entity/Q35243490
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2015 nî lūn-bûn
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2015 թուականի Մարտին հրատարակուած գիտական յօդուած
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2015 թվականի մարտին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
Heterozygous mutations in natr ...... e as a cause of short stature.
@ast
Heterozygous mutations in natr ...... e as a cause of short stature.
@en
type
label
Heterozygous mutations in natr ...... e as a cause of short stature.
@ast
Heterozygous mutations in natr ...... e as a cause of short stature.
@en
prefLabel
Heterozygous mutations in natr ...... e as a cause of short stature.
@ast
Heterozygous mutations in natr ...... e as a cause of short stature.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Heterozygous mutations in natr ...... e as a cause of short stature.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932