CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations (Q30410237)

8 September 2017

CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations (English)

1 reference

8 September 2017

L Basel-Vanagaite

1 reference

8 September 2017

M Pasmanik-Chor

1 reference

8 September 2017

R Lurie

1 reference

8 September 2017

A Yeheskel

1 reference

8 September 2017

K W Kjaer

1 reference

8 September 2017

1 January 2010

1 reference

8 September 2017

Molecular syndromology

1 reference

8 September 2017

1 reference

8 September 2017

1 reference

8 September 2017

223-230

1 reference

Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy

8 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

The cell-cell adhesion molecule E-cadherin.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

ProSA-web: interactive web service for the recognition of errors in three-dimensional structures of proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

beta-Catenin regulates P-cadherin expression in mammary basal epithelial cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

The HHpred interactive server for protein homology detection and structure prediction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Protein homology detection by HMM-HMM comparison

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Untangling Desmosomal Knots with Electron Tomography

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Can correct protein models be identified?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Structure validation by Calpha geometry: phi,psi and Cbeta deviation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Free energy determinants of tertiary structure and the evaluation of protein models.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Cadherin superfamily genes: functions, genomic organization, and neurologic diversity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

E- and P-cadherin expression during murine hair follicle morphogenesis and cycling.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

EEM syndrome: report of a family and results of a ten-year follow-up.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Recognition of errors in three-dimensional structures of proteins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Molecular cloning of a human Ca2+-dependent cell-cell adhesion molecule homologous to mouse placental cadherin: its low expression in human placental tissues

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

Hypotrichosis, syndactyly, and retinal degeneration in two siblings

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214945

A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22140374

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22140374

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22140374

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1159/000327156

1 reference

8 September 2017

1 reference

8 September 2017

PubMed publication ID

22140374

1 reference