(Q34088162)

English

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

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scholarly article

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Europe PubMed Central

PubMed publication ID

30 July 2017

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

schneckenbecken dysplasia

1 reference

based on heuristic

inferred from title

Haruhiko Koseki

9

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Europe PubMed Central

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30 July 2017

object named as

S Unger

12

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author name string

T Furuichi

1

1 reference

Europe PubMed Central

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30 July 2017

H Kayserili

2

1 reference

Europe PubMed Central

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30 July 2017

S Hiraoka

3

1 reference

Europe PubMed Central

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30 July 2017

G Nishimura

4

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Europe PubMed Central

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30 July 2017

H Ohashi

5

1 reference

Europe PubMed Central

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30 July 2017

Y Alanay

6

1 reference

Europe PubMed Central

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30 July 2017

J C Lerena

7

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30 July 2017

A D Aslanger

8

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Europe PubMed Central

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30 July 2017

D H Cohn

10

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30 July 2017

A Superti-Furga

11

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30 July 2017

S Ikegawa

13

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30 July 2017

language of work or name

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publication date

8 June 2009

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30 July 2017

Journal of Medical Genetics

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30 July 2017

46

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30 July 2017

8

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30 July 2017

562-568

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Europe PubMed Central

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30 July 2017

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

Human and Drosophila UDP-galactose transporters transport UDP-N-acetylgalactosamine in addition to UDP-galactose

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

Improved splice site detection in Genie

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

5 July 2018

Variety of nucleotide sugar transporters with respect to the interaction with nucleoside mono- and diphosphates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

28 October 2018

Identification and characterization of human Golgi nucleotide sugar transporter SLC35D2, a novel member of the SLC35 nucleotide sugar transporter family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

28 October 2018

A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

28 October 2018

Congenital lethal metaphyseal chondrodysplasia: a newly recognized complex autosomal recessive disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

28 October 2018

A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4144354

28 October 2018

Schneckenbecken dysplasia, radiology, and histology

1 reference

https://pubmed.ncbi.nlm.nih.gov/19508970

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Case report 693: Schneckenbecken dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/19508970

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/19508970

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional expression of the human UDP-galactose transporters in the yeast Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/19508970

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

https://pubmed.ncbi.nlm.nih.gov/19508970

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2008.065201

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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