(Q34050968)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

ectodermal dysplasia-syndactyly syndrome

9 February 2020

main subject

syndactyly

0 references

0 references

1 reference

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Bruno Dallapiccola

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Emanuele Agolini

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Emanuele Agolini

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Alfredo Rossi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Sigmar Stricker

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

16

Stefan Mundlos

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

15

Giandomenico Palka

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Francesco Brancati

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Paola Fortugno

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Irene Bottillo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Marc Lopez

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Emmanuelle Josselin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Omar Boudghene-Stambouli

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Laura Bernardini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Emanuele Bellacchio

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Miriam Iannicelli

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Amina Dib-Lachachi

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Uwe Kornak

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Giovanna Zambruno

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

English

0 references

publication date

1 August 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

number of pages

9

1 reference

American Journal of Human Genetics

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

265-273

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

Sculpturing digit shape by cell death.

9 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Essential mesenchymal role of small GTPase Rac1 in interdigital programmed cell death 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=2917716

Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

The immunoglobulin-like cell adhesion molecule nectin and its associated protein afadin.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

The roles of nectins in cell adhesions: cooperation with other cell adhesion molecules and growth factor receptors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Tight junctions/adherens junctions: basic structure and function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

SplicePort--an interactive splice-site analysis tool

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Nectin-4 is a new histological and serological tumor associated marker for breast cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Scratching the surface of skin 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=2917716

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Programmed cell death in the embryonic vertebrate limb

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Roles and modes of action of nectins in cell-cell adhesion.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

SIFT: Predicting amino acid changes that affect protein function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

The expression of nectin-1alpha in normal human skin and various skin tumours

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Links between signal transduction, transcription and adhesion in epithelial bud 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=2917716

Sticky business: orchestrating cellular signals at adherens junctions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Nectin and afadin: novel organizers of intercellular junctions.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Listening to silence and understanding nonsense: exonic mutations that affect splicing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

The Wnt antagonist Dickkopf-1 is regulated by Bmp signaling and c-Jun and modulates programmed cell death

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Nectin4/PRR4, a new afadin-associated member of the nectin family that trans-interacts with nectin1/PRR1 through V domain interaction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Nectin/PRR: an immunoglobulin-like cell adhesion molecule recruited to cadherin-based adherens junctions through interaction with Afadin, a PDZ domain-containing protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Cell adhesion: the molecular basis of tissue architecture and 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=2917716

Syndactyly, ectodermal dysplasia, and cleft lip/palate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Ectodermal dysplasias: clinical and molecular 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=2917716

2008 International Conference on Ectodermal Dysplasias Classification: conference report.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Expression patterns of nectins and afadin during epithelial remodeling in the mouse embryo

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Association of ectodermal dysplasia and syndactylia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917716

Ectodermal dysplasias: how many?

28 October 2018

1 reference

12 December 2020

Ectodermal Dysplasias

1 reference

12 December 2020

Apoptotic cell death in the mouse limb and its suppression in the hammertoe mutant

1 reference

12 December 2020

Rationale and background as basis for a new classification of the ectodermal dysplasias

1 reference

12 December 2020

10.1016/J.AJHG.2010.07.003

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20691405%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

20691405

1 reference