Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome (Q28146059)

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1 November 2019

title

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

1 reference

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ectrodactyly–ectodermal dysplasia–cleft syndrome

1 November 2019

main subject

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2

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1 November 2019

Hans van Bokhoven

19

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1 November 2019

author name string

J Celli

1

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1 November 2019

B C Hamel

3

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1 November 2019

M Bamshad

4

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1 November 2019

B Kramer

5

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1 November 2019

A P Smits

6

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1 November 2019

R Newbury-Ecob

7

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1 November 2019

R C Hennekam

8

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1 November 2019

G Van Buggenhout

9

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1 November 2019

A van Haeringen

10

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1 November 2019

C G Woods

11

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1 November 2019

A J van Essen

12

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1 November 2019

R de Waal

13

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1 November 2019

D A Haber

15

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1 November 2019

A Yang

16

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1 November 2019

F McKeon

17

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1 November 2019

H G Brunner

18

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1 November 2019

G Vriend

14

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1 November 2019

language of work or name

English

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publication date

1 October 1999

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1 November 2019

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1 November 2019

volume

99

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1 November 2019

issue

2

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1 November 2019

page(s)

143-153

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X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred.

1 November 2019

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

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The relation between the divergence of sequence and structure in proteins

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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

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p53 mutations in human cancers

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Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac

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Monoallelically expressed gene related to p53 at 1p36, a region frequently deleted in neuroblastoma and other human cancers

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p53: puzzle and paradigm

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Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

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p53, the cellular gatekeeper for growth and division

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A simple salting out procedure for extracting DNA from human nucleated cells

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7 January 2021

p63 is a p53 homologue required for limb and epidermal morphogenesis

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7 January 2021

Limb mutants: what can they tell us about normal limb development?

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

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

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7 January 2021

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

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

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7 January 2021

Database of homology-derived protein structures and the structural meaning of sequence alignment

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7 January 2021

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

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7 January 2021

A novel protein with strong homology to the tumor suppressor p53.

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Pathogenesis of ectrodactyly in the Dactylaplasia mouse: aberrant cell death of the apical ectodermal ridge

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

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Clonal expansion of p53 mutant cells is associated with brain tumour progression

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A new human p53 homologue

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

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WHAT IF: a molecular modeling and drug design program

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7 January 2021

Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A comparison of the biological activities of wild-type and mutant p53.

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7 January 2021

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Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10535733%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017