(Q24302252)

English

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia

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scholarly article

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Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia (English)

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Leucine rich repeat containing 6

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GOA release 2020-03-11

reproductive system development

1 reference

GOA release 2020-03-11

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based on heuristic

inferred from title

primary ciliary dyskinesia

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based on heuristic

inferred from title

4

object named as

Marie Legendre

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Jean-Pierre Siffroi

10

object named as

Jean-Pierre Siffroi

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author name string

Esther Kott

1

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Philippe Duquesnoy

2

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Bruno Copin

3

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Florence Dastot-Le Moal

5

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Guy Montantin

6

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Ludovic Jeanson

7

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Aline Tamalet

8

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Jean-François Papon

9

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Nathalie Rives

11

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Valérie Mitchell

12

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Jacques de Blic

13

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André Coste

14

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Annick Clement

15

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Denise Escalier

16

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Aminata Touré

17

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Estelle Escudier

18

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Serge Amselem

19

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language of work or name

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publication date

2 November 2012

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American Journal of Human Genetics

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91

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5

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958-64

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CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

Hearing in Drosophila requires TilB, a conserved protein associated with ciliary motility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

Identification of a novel testis-specific leucine-rich protein in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

Tissue expression patterns identify mouse cilia genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

19 March 2017

Overview of structure and function of mammalian cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

7 April 2017

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

27 September 2017

Ciliary defects and genetics of primary ciliary dyskinesia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

27 September 2017

Structural and functional diversities between members of the human HSPB, HSPH, HSPA, and DNAJ chaperone families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

27 September 2017

The leucine-rich repeat structure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

27 September 2017

Chlamydomonas flagellar outer row dynein assembly protein ODA7 interacts with both outer row and I1 inner row dyneins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

27 September 2017

Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

27 September 2017

The immotile-cilia syndrome: a microtubule-associated defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

27 September 2017

A Human Syndrome Caused by Immotile Cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

27 September 2017

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

30 May 2018

Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

29 November 2018

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

29 November 2018

Abnormal central complex is a marker of severity in the presence of partial ciliary defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487148

29 November 2018

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23122589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A capping domain for LRR protein interaction modules

1 reference

https://pubmed.ncbi.nlm.nih.gov/23122589

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zur Pathogenese der Bronchiektasien

1 reference

https://api.crossref.org/works/10.1016%2FJ.AJHG.2012.10.003

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/J.AJHG.2012.10.003

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