Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa (Q24647358)

Goncalo R Abecasis

25

0 references

Anand Swaroop

Anand Swaroop

31

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Stephen P. Daiger

28

Stephen P Daiger

0 references

Harald H. H. Göring

22

Harald H H Göring

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author name string

James S Friedman

1

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Joseph W Ray

2

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Naushin Waseem

3

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Kory Johnson

4

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Matthew J Brooks

5

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Therése Hugosson

6

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Debra Breuer

7

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Kari E Branham

8

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Daniel S Krauth

9

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Sara J Bowne

10

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Lori S Sullivan

11

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Vesna Ponjavic

12

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Lotta Gränse

13

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Ritu Khanna

14

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Edward H Trager

15

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Linn M Gieser

16

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Dianna Hughbanks-Wheaton

17

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Radu I Cojocaru

18

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Noor M Ghiasvand

19

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Christina F Chakarova

20

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Magnus Abrahamson

21

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Andrew R Webster

23

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Yang Fann

26

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Shomi S Bhattacharya

27

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John R Heckenlively

29

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Sten Andréasson

American Journal of Human Genetics

30

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language of work or name

English

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publication date

June 2009

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published in

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volume

84

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issue

6

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page(s)

792-800

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cites work

BTB Protein KLHL12 targets the dopamine D4 receptor for ubiquitination by a Cul3-based E3 ligase

1 reference

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Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

7 April 2017

1 reference

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Identification of specific autoantigens in Sjögren's syndrome by SEREX

7 April 2017

1 reference

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The SWISS-MODEL Repository of annotated three-dimensional protein structure homology models

7 April 2017

1 reference

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SWISS-MODEL: An automated protein homology-modeling server

7 April 2017

1 reference

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Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Structural basis for phosphodependent substrate selection and orientation by the SCFCdc4 ubiquitin ligase

7 April 2017

1 reference

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The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

WHAT IF: a molecular modeling and drug design program

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

The roles of intracellular protein-degradation pathways in neurodegeneration

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

A gene expression signature shared by human mature oocytes and embryonic stem cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Photoreceptor cell death mechanisms in inherited retinal degeneration.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Ubiquitin, the proteasome and protein degradation in neuronal function and dysfunction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

E3 ubiquitin ligases and mitosis: embracing the complexity.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Perspective on genes and mutations causing retinitis pigmentosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

27 September 2017

Giant axonal neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Born to bind: the BTB protein-protein interaction domain.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Detection of autoantibodies to the BTB-kelch protein KLHL7 in cancer sera

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Mega2: data-handling for facilitating genetic linkage and association analyses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

The BACK domain in BTB-kelch proteins.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

The relationship between opsin overexpression and photoreceptor degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Morphological, physiological, and biochemical changes in rhodopsin knockout mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

Transport to the photoreceptor outer segment by myosin VIIa and kinesin II.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2694974

GRR: graphical representation of relationship errors

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19520207

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Electroretinographic studies of families with dominant retinitis pigmentosa

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19520207

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19520207

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.05.007

1 reference

4525095

4525095

1 reference

1 reference

1 reference