(Q34494040)

English

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Terry Gaasterland

2

object named as

Terry Gaasterland

0 references

object named as

Lee Edsall

8

0 references

Catherine Cukras

1

object named as

Catherine Cukras

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

author name string

Pauline Lee

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Harini V Gudiseva

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Venkata R M Chavali

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Raghu Pullakhandam

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Bruno Maranhao

7

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Sandra Soares

9

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

G Bhanuprakash Reddy

10

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Paul A Sieving

11

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Radha Ayyagari

12

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Europe PubMed Central

PubMed publication ID

2 August 2017

language of work or name

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publication date

26 November 2012

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

e50205

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

copyright license

Creative Commons CC0 License

26 November 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

1 reference

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6 July 2018

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

The temporal requirement for vitamin A in the developing eye: mechanism of action in optic fissure closure and new roles for the vitamin in regulating cell proliferation and adhesion in the embryonic retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Perspective on genes and mutations causing retinitis pigmentosa

1 reference

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6 July 2018

Ocular coloboma: a reassessment in the age of molecular neuroscience

1 reference

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6 July 2018

Interactions amongst plasma retinol-binding protein, transthyretin and their ligands: implications in vitamin A homeostasis and transthyretin amyloidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Genetic defects in vitamin A metabolism of the retinal pigment epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Molecular genetics of Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Inflammation-induced changes in the nutritional biomarkers serum retinol and carotenoids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Vitamin A, infection, and immune function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Biochemical basis for depressed serum retinol levels in transthyretin-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

A case of human vitamin A deficiency caused by an inherited defect in retinol-binding protein without clinical symptoms except night blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Impaired retinal function and vitamin A availability in mice lacking retinol-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Retinal dystrophy and macular coloboma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

Simultaneous determination of α-tocopherol and retinol in plasma or red cells by high pressure liquid chromatography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506607

6 July 2018

ISCEV Standard for full-field clinical electroretinography (2008 update).

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050205

21 January 2018

A new method for purification of human plasma retinol-binding protein and transthyretin

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0050205

21 January 2018

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.

1 reference

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27 October 2018

Retinoid binding to retinol-binding protein and the interference with the interaction with transthyretin

1 reference

https://pubmed.ncbi.nlm.nih.gov/23189188

12 December 2020

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Identifiers

10.1371/JOURNAL.PONE.0050205

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

2012PLoSO...750205C

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

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