Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.

Item
http://www.wikidata.org/entity/Q34301501
Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause DwarfismA novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux typeA human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B.Catalytically active guanylyl cyclase-B requires glycosylation and mutations that inhibit this process cause dwarfism.Dephosphorylation of the NPR2 guanylyl cyclase contributes to inhibition of bone growth by fibroblast growth factor.A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.Regulation of Mammalian Oocyte Meiosis by Intercellular Communication Within the Ovarian Follicle.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.Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
P2860

Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.

Item
http://www.wikidata.org/entity/Q34301501
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2012 nî lūn-bûn
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2012 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Novel mutations in natriuretic ...... lic dysplasia, type maroteaux.
@ast
Novel mutations in natriuretic ...... lic dysplasia, type maroteaux.
@en
Novel mutations in natriuretic ...... lic dysplasia, type maroteaux.
@nl
type
label
Novel mutations in natriuretic ...... lic dysplasia, type maroteaux.
@ast
Novel mutations in natriuretic ...... lic dysplasia, type maroteaux.
@en
Novel mutations in natriuretic ...... lic dysplasia, type maroteaux.
@nl
prefLabel
Novel mutations in natriuretic ...... lic dysplasia, type maroteaux.
@ast
Novel mutations in natriuretic ...... lic dysplasia, type maroteaux.
@en
Novel mutations in natriuretic ...... lic dysplasia, type maroteaux.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Novel mutations in natriuretic ...... elic dysplasia, type maroteaux
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P698
P932