Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (Q34141916)

31 July 2017

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (English)

1 reference

31 July 2017

Ianakiev P

1

1 reference

31 July 2017

Kilpatrick MW

2

1 reference

31 July 2017

Toudjarska I

3

1 reference

31 July 2017

Basel D

4

1 reference

31 July 2017

Beighton P

5

1 reference

31 July 2017

Tsipouras P

6

1 reference

31 July 2017

language of work or name

English

0 references

publication date

5 June 2000

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

67

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31 July 2017

59-66

1 reference

31 July 2017

1

1 reference

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

p63 is a p53 homologue required for limb and epidermal morphogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Protein distance constraints predicted by neural networks and probability density functions.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

MOLMOL: a program for display and analysis of macromolecular structures

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

The EEC syndrome: a literature study.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

A split hand-split foot (SHFM3) gene is located at 10q24-->25.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

The proximo-distal sequence of origin of the parts of the chick wing and the role of the ectoderm.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Anomalous inheritance in a kindred with split hand, split foot malformation

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287102

Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10839977

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The DNA-binding domain of p53 contains the four conserved regions and the major mutation hot spots

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10839977

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dactylaplasia in mice a two-locus model for development anomalies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10839977

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302972

1 reference

31 July 2017

1 reference

31 July 2017

1 reference