Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

Item
http://www.wikidata.org/entity/Q24655560
Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause DwarfismA novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patientsEndoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM).Regulation and therapeutic targeting of peptide-activated receptor guanylyl cyclases.Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.Catalytically active guanylyl cyclase-B requires glycosylation and mutations that inhibit this process cause dwarfism.The Absence of Sensory Axon Bifurcation Affects Nociception and Termination Fields of Afferents in the Spinal Cord.Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II
P2860

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

Item
http://www.wikidata.org/entity/Q24655560
description
2009 nî lūn-bûn
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2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Defective cellular trafficking ...... melic dysplasia-type Maroteaux
@ast
Defective cellular trafficking ...... melic dysplasia-type Maroteaux
@en
Defective cellular trafficking ...... melic dysplasia-type Maroteaux
@nl
type
label
Defective cellular trafficking ...... melic dysplasia-type Maroteaux
@ast
Defective cellular trafficking ...... melic dysplasia-type Maroteaux
@en
Defective cellular trafficking ...... melic dysplasia-type Maroteaux
@nl
prefLabel
Defective cellular trafficking ...... melic dysplasia-type Maroteaux
@ast
Defective cellular trafficking ...... melic dysplasia-type Maroteaux
@en
Defective cellular trafficking ...... melic dysplasia-type Maroteaux
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Defective cellular trafficking ...... melic dysplasia-type Maroteaux
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932