Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
about
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaDymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone developmentBridging the Gap between Glycosylation and Vesicle TrafficEmerging Insights into the Roles of Membrane Tethers from Analysis of Whole Organisms: The Tip of an Iceberg?The Golgin Family of Coiled-Coil Tethering ProteinsPathobiology of Paget's Disease of BoneTranscriptional regulatory cascades in Runx2-dependent bone developmentMechanisms and models of endoplasmic reticulum stress in chondrodysplasiaGenetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaAdvances in Skeletal Dysplasia GeneticsGMAP210 and IFT88 are present in the spermatid golgi apparatus and participate in the development of the acrosome-acroplaxome complex, head-tail coupling apparatus and tailGolgi disruption and early embryonic lethality in mice lacking USO1Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype.Membrane trafficking. The specificity of vesicle traffic to the Golgi is encoded in the golgin coiled-coil proteins.New components of the Golgi matrix.Golgi post-translational modifications and associated diseases.GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.The golgin coiled-coil proteins of the Golgi apparatus.Coupling of vesicle tethering and Rab binding is required for in vivo functionality of the golgin GMAP-210The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway.New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.New therapeutic targets in rare genetic skeletal diseases.Canonical and noncanonical intraflagellar transport regulates craniofacial skeletal development.Glycobiology of cell death: when glycans and lectins govern cell fate.Golgb1 regulates protein glycosylation and is crucial for mammalian palate developmentA role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2.Serum proteomic analysis identifies sex-specific differences in lipid metabolism and inflammation profiles in adults diagnosed with Asperger syndromeClinical and Genetic Advances in Paget's Disease of Bone: a Review.Recent progress in the study of the genetics of height.Golgi glycosylation and human inherited diseases.Genetic determinants of Paget's disease of bone.Using height association studies to gain insights into human idiopathic short and syndromic stature phenotypes.The centrosome-Golgi apparatus nexusBiology and Treatment of Paget's Disease of Bone.TFG Promotes Organization of Transitional ER and Efficient Collagen Secretion.A filter at the entrance of the Golgi that selects vesicles according to size and bulk lipid composition.The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects.Golga5 is dispensable for mouse embryonic development and postnatal survival.The Function of the Golgi Ribbon Structure - An Enduring Mystery Unfolds!
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P2860
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
description
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2010
@ast
im Januar 2010 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2010/01/21)
@sk
vědecký článek publikovaný v roce 2010
@cs
wetenschappelijk artikel (gepubliceerd op 2010/01/21)
@nl
наукова стаття, опублікована в січні 2010
@uk
مقالة علمية (نشرت في 21-1-2010)
@ar
name
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
@ast
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
@en
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
@nl
type
label
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
@ast
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
@en
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
@nl
prefLabel
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
@ast
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
@en
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
@nl
P2093
P2860
P3181
P356
P1476
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
@en
P2093
Andrew D. Bolton
Barry Merriman
Daniel H. Cohn
Danielle K. Manning
David R. Beier
Deborah Krakow
Eric D. Boyden
Jennifer L. Moran
Luisa Bonafé
Mary Prysak
P2860
P304
P3181
P356
10.1056/NEJMOA0900158
P407
P577
2010-01-21T00:00:00Z