(Q35889778)

10 August 2017

A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB (English)

1 reference

10 August 2017

1 reference

achondrogenesis type IB

1 reference

Superti-Furga A

1

1 reference

PMCID

1918434

10 August 2017

language of work or name

English

0 references

publication date

1 December 1994

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

55

1 reference

10 August 2017

6

1 reference

10 August 2017

1137-1145

1 reference

cDNA cloning of chick cartilage chondroitin sulfate (aggrecan) core protein and identification of a stop codon in the aggrecan gene associated with the chondrodystrophy, nanomelia.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

The type II collagenopathies: a spectrum of chondrodysplasias

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Specific inhibition of type I and type II collagen fibrillogenesis by the small proteoglycan of tendon

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Mechanisms of glycosylation and sulfation in the Golgi apparatus: evidence for nucleotide sugar/nucleoside monophosphate and nucleotide sulfate/nucleoside monophosphate antiports in the Golgi apparatus membrane

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Achondrogenesis in two sibs

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Type II collagen screening in the human chondrodysplasias

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

Defects in the cartilaginous growth plates of brachymorphic mice

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918434

[On achondrogenesis (author's transl)]

24 September 2018

1 reference

12 December 2020

Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias

1 reference

12 December 2020

Achondrogenesis: report on a case, with particular reference to ultrastructure and histochemistry

1 reference

12 December 2020

Two types of heritable lethal achondrogenesis

1 reference

12 December 2020

Undersulfated chondroitin sulfate in the cartilage matrix of brachymorphic mice

1 reference

12 December 2020

A chondroplastic, brachymorphic and stubby chondrodystophies in mice

1 reference

12 December 2020

Cartilage matrix deficiency (cmd): a new autosomal recessive lethal mutation in the mouse

1 reference

12 December 2020

Defective PAPS-synthesis in epiphyseal cartilage from brachymorphic mice

1 reference

12 December 2020

Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose

1 reference

12 December 2020

Fibromodulin distribution and association with collagen

1 reference

12 December 2020

Biological sulfate activation and transfer

1 reference

12 December 2020

A modified uronic acid carbazole reaction

1 reference

12 December 2020

NANOMELIA, A LETHAL NUTATION OF THE FOWL

1 reference

12 December 2020

Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby

1 reference

12 December 2020

Synthesis of 3'-phosphoadenosine-5'-phosphosulfate (PAPS) increases during corneal development

1 reference

12 December 2020

Achondrogenesis type I: Light and electron-microscopic studies

1 reference

12 December 2020

Spondyloepiphyseal dysplasia, chondroitin sulfate type: a possible defect of PAPS--chondroitin sulfate sulfotransferase in humans

1 reference

12 December 2020

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

1 reference

12 December 2020

Biosynthesis of proteodermatan sulfate in cultured human fibroblasts

1 reference

12 December 2020

Co-purification and characterization of ATP-sulfurylase and adenosine-5'-phosphosulfate kinase from rat chondrosarcoma

1 reference

12 December 2020

Influence of cartilage proteoglycans on type II collagen fibrillogenesis

1 reference

12 December 2020

Tyrosine O-sulfate ester in proteoglycans

1 reference

12 December 2020

Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases

1 reference

12 December 2020

Decreasing sulfation of proteoglycans produced by cultured cells

1 reference

12 December 2020

Identifiers

PMCID

1918434

1 reference

10 August 2017

1 reference

PMCID

1918434