(Q28247493)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

Stimulated by retinoic acid 6

12 February 2020

main subject

1 reference

camera-type eye development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Maria Morrissey

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Paul A McGettigan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Jens Erik Nielsen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Elaine M Kenny

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Derek W. Morris

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Breandan N Kennedy

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Andrew Green

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Sean Ennis

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Jillian Casey

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Riki Kawaguchi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Hui Sun

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Judith Conroy

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Regina Regan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Paul Cormican

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Peter Tormey

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Muireann Ní Chróinín

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

SallyAnn Lynch

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

language of work or name

English

0 references

publication date

29 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

1417-1426

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease

12 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=3918001

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

The Sequence Alignment/Map format and SAMtools

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Anophthalmia and microphthalmia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Hsp90 selectively modulates phenotype in vertebrate development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Heterozygous mutations of OTX2 cause severe ocular malformations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Pathways of vitamin A delivery to the embryo: insights from a new tunable model of embryonic vitamin A deficiency

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Membrane protein folding and stability: physical principles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Bilateral anophthalmia with septo-optic dysplasia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Mapping the membrane topology and extracellular ligand binding domains of the retinol binding protein receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Genetic factors in congenital diaphragmatic hernia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Teratogen-induced, dietary and genetic models of congenital diaphragmatic hernia share a common mechanism of pathogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Eye anomalies: seasonal variation and maternal viral infections

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Mutations in SOX2 cause anophthalmia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Environmental risk factors in congenital malformations of the eye.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Teratogenicity of isotretinoin revisited: species variation and the role of all-trans-retinoic acid

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Function of vitamin A in vertebrate embryonic development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

29 September 2017

Teratology of retinoids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Structure-activity and dose-response relationships in the neural and behavioral teratogenesis of retinoids

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Retinoic acid is necessary for development of the ventral retina in zebrafish.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Modelling the polypeptide backbone with 'spare parts' from known protein structures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Transport and storage of vitamin A.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Congenital eye malformations in 212,479 consecutive births.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Retinoic acid. A key molecule for eye and photoreceptor development

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Developmental expression pattern of Stra6, a retinoic acid-responsive gene encoding a new type of membrane protein

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3918001

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

2 June 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21590

Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21590

SOX2 anophthalmia syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21590

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21590

Alteration in catalytic properties of human CYP2D6 caused by substitution of glycine-42 with arginine, lysine and glutamic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21590

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21590

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21590

Genetic counseling in cases of microphthalmos and anophthalmos

21 January 2018

1 reference

12 December 2020

Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma

1 reference

12 December 2020

X-linked clinical anophthalmos Localization of the gene to Xq27-Xq28

1 reference

12 December 2020

An analysis of the syndrome of malformations induced by maternal vitamin A deficiency. Effects of restoration of vitamin A at various times during gestation

1 reference

12 December 2020

Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes

1 reference

12 December 2020

Vitamin A transport in human vitamin A toxicity

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21590

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901792%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

21901792

1 reference