Chondrodysplasias due to proteoglycan defects (Q34664372)

3 August 2017

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title

Chondrodysplasias due to proteoglycan defects (English)

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3 August 2017

Nancy B Schwartz

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3 August 2017

Miriam Domowicz

series ordinal

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3 August 2017

publication date

1 April 2002

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3 August 2017

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3 August 2017

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3 August 2017

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3 August 2017

page(s)

57R-68R

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Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.

3 August 2017

cites work

1 reference

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Sox9 is required for cartilage formation

21 January 2018

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Heparan sulfate proteoglycans and cancer.

21 January 2018

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Identification and synthesis of a recognition signal for the attachment of glycosaminoglycans to proteins

21 January 2018

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Immunological evidence for two distinct chondroitin sulfate proteoglycan core proteins: differential expression in cartilage matrix deficient mice

21 January 2018

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Chondrocyte-specific enhancer elements in the Col11a2 gene resemble the Col2a1 tissue-specific enhancer

21 January 2018

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The folded modules of aggrecan G3 domain exert two separable functions in glycosaminoglycan modification and product secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Perlecan maintains the integrity of cartilage and some basement membranes

21 January 2018

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Developmental roles of the glypicans

21 January 2018

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Transcriptional mechanisms of chondrocyte differentiation

21 January 2018

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Regulatory mechanisms in the pathways of cartilage and bone formation

21 January 2018

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Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

21 January 2018

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A human-specific polymorphism in the coding region of the aggrecan gene. Variable number of tandem repeats produce a range of core protein sizes in the general population

21 January 2018

1 reference

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The biochemically and immunologically distinct CSPG of notochord is a product of the aggrecan gene

21 January 2018

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Molecular diversity of heparan sulfate

21 January 2018

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Influence of core protein sequence on glycosaminoglycan assembly

21 January 2018

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Differential expression of lumican and fibromodulin regulate collagen fibrillogenesis in developing mouse tendons

21 January 2018

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Glypicans in growth control and cancer

21 January 2018

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Expression of the heparan sulfate proteoglycan, perlecan, during mouse embryogenesis and perlecan chondrogenic activity in vitro

21 January 2018

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MINI REVIEW Keratan sulfate: structure, biosynthesis, and function

21 January 2018

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Interaction of cartilage proteoglycans with hyaluronic acid

21 January 2018

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Proteoglycan core protein families

21 January 2018

1 reference

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The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

21 January 2018

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Sulfate transport in chondrodysplasia

21 January 2018

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The chondrogenic transcription factor Sox9 is a target of signaling by the parathyroid hormone-related peptide in the growth plate of endochondral bones

21 January 2018

1 reference

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Matrix proteoglycans: from molecular design to cellular function

21 January 2018

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Mechanisms of limb patterning.

21 January 2018

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Proteoglycans: structures and interactions

21 January 2018

1 reference

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Hyaluronan receptor-directed assembly of chondrocyte pericellular matrix

21 January 2018

1 reference

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21 January 2018

Cartilage proteoglycans

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https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Proteoglycans of the extracellular matrix and growth control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Completion of the mouse aggrecan gene structure and identification of the defect in the cmd-Bc mouse as a near complete deletion of the murine aggrecan gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Primary structure of an extracellular matrix proteoglycan core protein deduced from cloned cDNA

21 January 2018

1 reference

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Genomic organization of the mouse and human genes encoding the ATP sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

A member of a family of sulfate-activating enzymes causes murine brachymorphism

21 January 2018

1 reference

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The isolation and characterization of cDNA encoding the mouse bifunctional ATP sulfurylase-adenosine 5'-phosphosulfate kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

S103L reactive chondroitin sulfate proteoglycan (aggrecan) mRNA expressed in developing chick brain and cartilage is encoded by a single gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Dally cooperates with Drosophila Frizzled 2 to transduce Wingless signalling

21 January 2018

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Disruption of gastrulation and heparan sulfate biosynthesis in EXT1-deficient mice

21 January 2018

1 reference

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The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate

21 January 2018

1 reference

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Regulated diversity of heparan sulfate

21 January 2018

1 reference

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Aggrecan from start to finish

21 January 2018

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A clinical and genetic study of campomelic dysplasia

21 January 2018

1 reference

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Super-motifs and evolution of tandem leucine-rich repeats within the small proteoglycans--biglycan, decorin, lumican, fibromodulin, PRELP, keratocan, osteoadherin, epiphycan, and osteoglycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Structure and function of extracellular matrix proteoglycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Defects in the cartilaginous growth plates of brachymorphic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development

21 January 2018

1 reference

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Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses

21 January 2018

1 reference

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Biochemical and ultrastructural studies of collagen and proteochondroitin sulfate in normal and nanomelic cartilage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Age-dependent inhibition of neural crest migration by the notochord correlates with alterations in the S103L chondroitin sulfate proteoglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Proteoglycans as modulators of growth factor activities

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Developmental patterns of cartilage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Chondrocytes from the cartilage proteoglycan-deficient mutant, nanomelia, synthesize greatly reduced levels of the proteoglycan core protein transcript

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Recent advances in the study of the biosynthesis and functions of sulfated glycosaminoglycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Defect in 3'-phosphoadenosine 5'-phosphosulfate formation in brachymorphic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Defect in 3'-phosphoadenosine 5'-phosphosulfate synthesis in brachymorphic mice. II. Tissue distribution of the defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Fibromodulin and lumican bind to the same region on collagen type I fibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Morphogen gradients in vertebrate limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FGLYCOB%2F12.4.57R

21 January 2018

Identifiers

DOI

10.1093/GLYCOB/12.4.57R

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3 August 2017

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