Dissection of epistasis in oligogenic Bardet-Biedl syndrome (Q24297989)

GOA release 2020-03-11

Bardet-Biedl syndrome

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10

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Jose Badano

object named as

Jose L Badano

1

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author name string

Carmen C Leitch

2

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Stephen J Ansley

3

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Helen May-Simera

4

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Shaneka Lawson

5

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Richard Alan Lewis

6

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Philip L Beales

7

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Harry C Dietz

8

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Shannon Fisher

Beyond Mendel: an evolving view of human genetic disease transmission

9

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language of work or name

English

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publication date

19 January 2006

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published in

Nature

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volume

439

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issue

7074

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page(s)

326-30

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cites work

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Further support for digenic inheritance in Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

The centrosome in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Isolation of a complementary DNA that encodes the mammalian splicing factor SC35

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Inactivation of the SR protein splicing factor ASF/SF2 results in genomic instability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Principles for the buffering of genetic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

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7 January 2021

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The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

1 reference

https://api.crossref.org/works/10.1038%2FNATURE04370

inferred from DOI database lookup

7 January 2021

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Identifiers

DOI

10.1038/NATURE04370

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

1015112636

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Fatcat ID

release_s7m2qynczjgt3cpg24ghbxoaiq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/s7m2qynczjgt3cpg24ghbxoaiq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

16327777

1 reference

Consolidated OpenCitations Corpus – April 2017