(Q41834808)

12 October 2017

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome (English)

1 reference

12 October 2017

1 reference

1 reference

9

Fowzan S Alkuraya

1 reference

12 October 2017

2

Ranad Shaheen

1 reference

12 October 2017

Anas M Alazami

1

1 reference

12 October 2017

Fatema Alzahrani

3

1 reference

12 October 2017

Katie Snape

4

1 reference

12 October 2017

Anand Saggar

5

1 reference

12 October 2017

Bernd Brinkmann

6

1 reference

12 October 2017

Prashant Bavi

7

1 reference

12 October 2017

Lihadh I Al-Gazali

8

1 reference

12 October 2017

language of work or name

English

0 references

publication date

1 September 2009

1 reference

American Journal of Human Genetics

12 October 2017

1 reference

12 October 2017

85

1 reference

12 October 2017

3

1 reference

12 October 2017

414-418

1 reference

The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Let's stick together: the role of the Fras1 and Frem proteins in epidermal adhesion

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

The genetics of Fraser syndrome and the blebs mouse mutants

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

A novel repeat in the melanoma-associated chondroitin sulfate proteoglycan defines a new protein family

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

Eyelid development, fusion and subsequent reopening in the mouse.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

A study of digit fusion in the mouse embryo

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771533

An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations

6 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19732862

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Differential localization profile of Fras1/Frem proteins in epithelial basement membranes of newborn and adult mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19732862

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Head blebs: a new mutation on chromosome 4 of the mouse

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19732862

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.08.010

1 reference

12 October 2017

1 reference

12 October 2017

1 reference