Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human
about
Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strengthExome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaHuman genetic disorders and knockout mice deficient in glycosaminoglycanClassic selective sweeps revealed by massive sequencing in cattleDelineation of in vitro chondrogenesis of human synovial stem cells following preconditioning using decellularized matrixChondroitin sulfate N-acetylgalactosaminyltransferase-1 is required for normal cartilage developmentChondroitin 4-O-sulfotransferase-1 regulates the chain length of chondroitin sulfate in co-operation with chondroitin N-acetylgalactosaminyltransferase-2Chondroitin sulfate N-acetylgalactosaminyltransferase 1 is necessary for normal endochondral ossification and aggrecan metabolismThe Golgi localized bifunctional UDP-rhamnose/UDP-galactose transporter family of Arabidopsis.Role of glycans and glycosyltransferases in the regulation of Notch signalingInhibition of Golgi apparatus glycosylation causes endoplasmic reticulum stress and decreased protein synthesisThe role of nucleotide sugar transporters in development of eukaryotes.Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.The different roles of aggrecan interaction domainsEmerging genetic basis of osteochondritis dissecans.A genome-wide screen indicates correlation between differentiation and expression of metabolism related genesTransforming growth factor β signaling upregulates the expression of human GDP-fucose transporter by activating transcription factor Sp1.Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.Matrix disruptions, growth, and degradation of cartilage with impaired sulfation.New therapeutic targets in rare genetic skeletal diseases.Molecular asymmetry in the 8-cell stage Xenopus tropicalis embryo described by single blastomere transcript sequencing.The ortholog of human solute carrier family 35 member B1 (UDP-galactose transporter-related protein 1) is involved in maintenance of ER homeostasis and essential for larval development in Caenorhabditis elegansSonic hedgehog signaling directly targets Hyaluronic Acid Synthase 2, an essential regulator of phalangeal joint patterning.Transport of estradiol-17β-glucuronide, estrone-3-sulfate and taurocholate across the endoplasmic reticulum membrane: evidence for different transport systems.Golgi glycosylation and human inherited diseases.Developmental diseases caused by impaired nucleotide sugar transporters.Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycansCongenital disorders of glycosylation and intellectual disability.Structure and function of nucleotide sugar transporters: Current progress.Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.MDA-MB-231 breast cancer cell viability, motility and matrix adhesion are regulated by a complex interplay of heparan sulfate, chondroitin-/dermatan sulfate and hyaluronan biosynthesis.A functional splice variant of the human Golgi CMP-sialic acid transporter.INPPL1 gene mutations in opsismodysplasiaDe novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia.Cartilage ultrastructure in proteoglycan-deficient zebrafish mutants brings to light new candidate genes for human skeletal disorders.UDP-Glucuronic Acid Transport Is Required for Virulence of Cryptococcus neoformans.Postnatal lethality and chondrodysplasia in mice lacking both chondroitin sulfate N-acetylgalactosaminyltransferase-1 and -2.
P2860
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P2860
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human
description
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2007
@ast
im November 2007 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2007/11/01)
@sk
vědecký článek publikovaný v roce 2007
@cs
wetenschappelijk artikel (gepubliceerd op 2007/11/01)
@nl
наукова стаття, опублікована в листопаді 2007
@uk
مقالة علمية (نشرت في نوفمبر 2007)
@ar
name
Nucleotide-sugar transporter S ...... development in mouse and human
@ast
Nucleotide-sugar transporter S ...... development in mouse and human
@en
Nucleotide-sugar transporter S ...... development in mouse and human
@nl
type
label
Nucleotide-sugar transporter S ...... development in mouse and human
@ast
Nucleotide-sugar transporter S ...... development in mouse and human
@en
Nucleotide-sugar transporter S ...... development in mouse and human
@nl
prefLabel
Nucleotide-sugar transporter S ...... development in mouse and human
@ast
Nucleotide-sugar transporter S ...... development in mouse and human
@en
Nucleotide-sugar transporter S ...... development in mouse and human
@nl
P2093
P356
P1433
P1476
Nucleotide-sugar transporter S ...... development in mouse and human
@en
P2093
Akiko Kinoshita-Toyoda
Daniel H. Cohn
David L. Rimoin
Gen Nishimura
Hidenao Toyoda
Kayoko Katsuyama
Kyoichi Isono
Masaki Yanagishita
Minako Ogawa
Nobuhiro Ishida
P2888
P304
P356
10.1038/NM1655
P407
P577
2007-11-01T00:00:00Z
P5875
P6179
1024684818