Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia (Q24291173)

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scientific article

Language	Label	Description	Also known as
English	Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia	scientific article

Statements

scholarly article

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Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia (English)

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inorganic diphosphate transmembrane transporter activity

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Gene Ontology release 2020-05-02

Gene Ontology ID

GOA release 2020-03-11

ANKH inorganic pyrophosphate transport regulator

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GOA release 2020-03-11

Progressive ankylosis

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GOA release 2020-03-11

craniometaphyseal dysplasia

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based on heuristic

inferred from title

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based on heuristic

inferred from title

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ORCID Public Data File 2021

author name string

P Nürnberg

1

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H Thiele

2

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D Chandler

3

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W Höhne

4

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M L Cunningham

5

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H Ritter

6

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G Leschik

7

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K Uhlmann

8

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C Mischung

9

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K Harrop

10

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J Goldblatt

11

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Z U Borochowitz

12

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D Kotzot

13

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F Westermann

14

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S Mundlos

15

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H S Braun

16

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N Laing

17

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S Tinschert

18

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language of work or name

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publication date

May 2001

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Nature Genetics

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28

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1

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37-41

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Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling.

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Craniometaphyseal dysplasia (CMD), autosomal dominant form

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https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of the mouse ank gene in control of tissue calcification and arthritis

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Diphosphonates: History and mechanisms of action

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Localisation of a gene for chondrocalcinosis to chromosome 5p

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Craniometaphyseal dysplasia in six generations of a German kindred

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal-dominante kraniometaphysäre Dysplasie

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominant craniometaphyseal dysplasia--a family study over five generations

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

The helical hydrophobic moment: a measure of the amphiphilicity of a helix

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://api.crossref.org/works/10.1038%2FNG0501-37

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/NG0501-37

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1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

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release_2n73rrxghreglmipiqanonjj24

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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