Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse (Q22003952)

3'-phosphoadenosine 5'-phosphosulfate synthase 1

GOA release 2020-03-11

1 reference

skeletal system development

GOA release 2020-03-11

1 reference

spondyloepimetaphyseal dysplasia

GOA release 2020-03-11

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M Faiyaz ul Haque

1

Muhammad Faiyaz ul

Haque

1 reference

6 February 2023

L M King

2

Lily M.

King

1 reference

6 February 2023

D Krakow

3

Deborah

Krakow

1 reference

6 February 2023

R M Cantor

4

Rita M.

Cantor

1 reference

6 February 2023

M E Rusiniak

5

Michael E.

Rusiniak

1 reference

6 February 2023

R T Swank

6

Richard T.

Swank

1 reference

6 February 2023

A Superti-Furga

7

Andrea

Superti-Furga

1 reference

6 February 2023

S Haque

8

Sayedul

Haque

1 reference

6 February 2023

H Abbas

9

Hasan

Abbas

1 reference

6 February 2023

W Ahmad

10

Wasim

Ahmad

1 reference

6 February 2023

M Ahmad

11

Mahmud

Ahmad

1 reference

6 February 2023

D H Cohn

12

Daniel H.

Cohn

1 reference

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

6 February 2023

language of work or name

English

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publication date

October 1998

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published in

Nature Genetics

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volume

20

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issue

2

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page(s)

157-62

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cites work

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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

21 January 2018

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Purification of the Golgi adenosine 3'-phosphate 5'-phosphosulfate transporter, a homodimer within the membrane

21 January 2018

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A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans

21 January 2018

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

21 January 2018

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Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.

21 January 2018

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Defects in the cartilaginous growth plates of brachymorphic mice

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

21 January 2018

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An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

21 January 2018

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

21 January 2018

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Requirement of heparan sulfate for bFGF-mediated fibroblast growth and myoblast differentiation

21 January 2018

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Cell surface, heparin-like molecules are required for binding of basic fibroblast growth factor to its high affinity receptor

21 January 2018

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Regulation of growth factor activation by proteoglycans: what is the role of the low affinity receptors?

21 January 2018

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Renal agenesis in mice homozygous for a gene trap mutation in the gene encoding heparan sulfate 2-sulfotransferase

21 January 2018

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Initiation of hepatocarcinogenesis in infant male B6C3F1 mice by N-hydroxy-2-aminofluorene or N-hydroxy-2-acetylaminofluorene depends primarily on metabolism to N-sulfooxy-2-aminofluorene and formation of DNA-(deoxyguanosin-8-yl)-2-aminofluorene add

21 January 2018

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Multiple loci affect genetic predisposition to hepatocarcinogenesis in mice.

21 January 2018

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An integrated physical and genetic map spanning chromosome band 10q24.

21 January 2018

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Biological sulfate activation and transfer

21 January 2018

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7 January 2021

Sulfate transport in human lung fibroblasts (IMR-90)

1 reference

7 January 2021

Expression cloning of rat renal Na+/SO4(2-) cotransport

1 reference

7 January 2021

Kinetics of PAPS translocase: evidence for an antiport mechanism

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7 January 2021

Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2

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7 January 2021

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

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7 January 2021

Undersulfated chondroitin sulfate in the cartilage matrix of brachymorphic mice

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7 January 2021

Defective PAPS-synthesis in epiphyseal cartilage from brachymorphic mice

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7 January 2021

Rat chondrosarcoma ATP sulfurylase and adenosine 5'-phosphosulfate kinase reside on a single bifunctional protein

1 reference

7 January 2021

Sulfate-activating enzymes in normal and brachymorphic mice: evidence for a channeling defect

1 reference

7 January 2021

A chondroplastic, brachymorphic and stubby chondrodystophies in mice

1 reference

7 January 2021

Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm

1 reference

7 January 2021

Effect of the brachymorphic trait in mice on xenobiotic sulfate ester formation

1 reference

7 January 2021

Occurrence and biological effects of cholesteryl sulfate on blood platelets

1 reference

7 January 2021

Identifiers

DOI

10.1038/2458

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