(Q42539520)

English

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

scientific article published on 17 July 2001

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Limb–mammary syndrome

1 reference

based on heuristic

inferred from title

ectrodactyly–ectodermal dysplasia–cleft syndrome

1 reference

based on heuristic

inferred from title

Hans van Bokhoven

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Fiorella Gurrieri

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Andreas Janecke

19

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

14

object named as

Verloes A

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

Hamel BC

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Bamshad M

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Sangiorgi E

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Vanmolkot KR

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

van Beusekom E

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

van Beersum SE

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Celli J

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Merkx GF

11

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Tenconi R

12

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Fryns JP

13

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Newbury-Ecob RA

15

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Raas-Rotschild A

16

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Majewski F

17

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Beemer FA

18

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Chitayat D

20

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Crisponi G

21

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Kayserili H

22

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Yates JR

23

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Neri G

24

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Brunner HG

25

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

language of work or name

0 references

publication date

17 July 2001

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

69

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

481-492

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Mutational analysis of the p63/p73L/p51/p40/CUSP/KET gene in human cancer cell lines using intronic primers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

IARC p53 mutation database: a relational database to compile and analyze p53 mutations in human tumors and cell lines. International Agency for Research on Cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

p63 is a p53 homologue required for limb and epidermal morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

A second p53-related protein, p73L, with high homology to p73.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Cloning and functional analysis of human p51, which structurally and functionally resembles p53

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

A new human p53 homologue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

An oncogenic form of p53 confers a dominant, gain-of-function phenotype that disrupts spindle checkpoint control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Activation of FGF receptors by mutations in the transmembrane domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Preferential formation of benzo[a]pyrene adducts at lung cancer mutational hotspots in P53.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

The EEC syndrome: a literature study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Gain of function mutations in p53.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Achondroplasia is defined by recurrent G380R mutations of FGFR3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Face facts: genes, environment, and clefts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Palate development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

EEC syndrome: report on 20 new patients, clinical and genetic considerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Demonstration of the genuine iso-12p character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competitive in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

28 May 2018

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

16 August 2018

Slow repair of pyrimidine dimers at p53 mutation hotspots in skin cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

16 August 2018

5-Methylcytosine as an Endogenous Mutagen in the Human LDL Receptor and p53 Genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

16 August 2018

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235479

16 August 2018

Split-hand/split-foot malformation with paternal mutation in the p63 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/11462173

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The lacrimo-auriculo-dento-digital syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11462173

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A specific mismatch repair event protects mammalian cells from loss of 5-methylcytosine

1 reference

https://pubmed.ncbi.nlm.nih.gov/11462173

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome specificity of satellite DNAs: short- and long-range organization of a diverged dimeric subset of human alpha satellite from chromosome 3

1 reference

https://pubmed.ncbi.nlm.nih.gov/11462173

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11462173

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11462173

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11462173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q42539520&oldid=2090812878"