ARTICLE CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation | ORKG Ask

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

January 2011

Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of t...

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Blanchon, Sylvain
Legendre, Marie
Copin, Bruno
Duquesnoy, Philippe
Montantin, Guy
Kott, Esther
Dastot, Florence
Jeanson, Ludovic
Cachanado, Marine
Rousseau, Alexandra
Papon, Jean François
Beydon, Nicole
Brouard, Jacques
Crestani, Bruno
Deschildre, Antoine
Désir, Julie
Dollfus, Hélène
Leheup, Bruno
Tamalet, Aline
Thumerelle, Caroline
Vojtek, Anne-Marie
Escalier, Denise
Coste, André
de Blic, Jacques
Clément, Annick
Escudier, Estelle
Amselem, Serge

June 2012

International audienceBackground: CCDC39 and CCDC40 genes have recently been implicated in primary c...

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Pennarun, Gaëlle
Escudier, Estelle
Chapelin, Catherine
Bridoux, Anne-Marie
Cacheux, Valère
Roger, Gilles
Clément, Annick
Goossens, Michel
Amselem, Serge
Duriez, Bénédicte

December 1999

SummaryPrimary ciliary dyskinesia (PCD) is a group of heterogeneous disorders of unknown origin, usu...

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

January 2014

Contains fulltext : 137236.pdf (publisher's version ) (Open Access)A diverse famil...

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

January 2017

Contains fulltext : 174892.pdf (publisher's version ) (Open Access)By moving essen...

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

July 2015

We present a stratification of the genetic basis of primary ciliary dyskinesia (PCD), based on scree...

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

Fassad, Mahmoud R.
Shoemark, Amelia
Borgne, Pierrick,
Koll, France
Patel, Mitali
Dixon, Mellisa
Hayward, Jane
Richardson, Charlotte
Frost, Emily
Jenkins, Lucy
Cullup, Thomas
Chung, Eddie M. K.
Lemullois, Michel
Aubusson-Fleury, Anne
Hogg, Claire
Mitchell, David R.
Tassin, Anne-Marie
Mitchison, Hannah M.

January 2018

International audiencePrimary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogen...

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

September 2014

A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including ...

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

January 2011

International audiencePrimary ciliary dyskinesia (PCD) is an inherited disorder characterized by rec...

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

January 2011

Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of t...

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Blanchon, Sylvain
Legendre, Marie
Copin, Bruno
Duquesnoy, Philippe
Montantin, Guy
Kott, Esther
Dastot, Florence
Jeanson, Ludovic
Cachanado, Marine
Rousseau, Alexandra
Papon, Jean François
Beydon, Nicole
Brouard, Jacques
Crestani, Bruno
Deschildre, Antoine
Désir, Julie
Dollfus, Hélène
Leheup, Bruno
Tamalet, Aline
Thumerelle, Caroline
Vojtek, Anne-Marie
Escalier, Denise
Coste, André
de Blic, Jacques
Clément, Annick
Escudier, Estelle
Amselem, Serge

June 2012

International audienceBackground: CCDC39 and CCDC40 genes have recently been implicated in primary c...

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Pennarun, Gaëlle
Escudier, Estelle
Chapelin, Catherine
Bridoux, Anne-Marie
Cacheux, Valère
Roger, Gilles
Clément, Annick
Goossens, Michel
Amselem, Serge
Duriez, Bénédicte

December 1999

SummaryPrimary ciliary dyskinesia (PCD) is a group of heterogeneous disorders of unknown origin, usu...

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

January 2014

Contains fulltext : 137236.pdf (publisher's version ) (Open Access)A diverse famil...

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

January 2017

Contains fulltext : 174892.pdf (publisher's version ) (Open Access)By moving essen...

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

July 2015

We present a stratification of the genetic basis of primary ciliary dyskinesia (PCD), based on scree...

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

Fassad, Mahmoud R.
Shoemark, Amelia
Borgne, Pierrick,
Koll, France
Patel, Mitali
Dixon, Mellisa
Hayward, Jane
Richardson, Charlotte
Frost, Emily
Jenkins, Lucy
Cullup, Thomas
Chung, Eddie M. K.
Lemullois, Michel
Aubusson-Fleury, Anne
Hogg, Claire
Mitchell, David R.
Tassin, Anne-Marie
Mitchison, Hannah M.

January 2018

International audiencePrimary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogen...

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

September 2014

A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including ...

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

January 2011

International audiencePrimary ciliary dyskinesia (PCD) is an inherited disorder characterized by rec...

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

January 2011

Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections of t...

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Blanchon, Sylvain
Legendre, Marie
Copin, Bruno
Duquesnoy, Philippe
Montantin, Guy
Kott, Esther
Dastot, Florence
Jeanson, Ludovic
Cachanado, Marine
Rousseau, Alexandra
Papon, Jean François
Beydon, Nicole
Brouard, Jacques
Crestani, Bruno
Deschildre, Antoine
Désir, Julie
Dollfus, Hélène
Leheup, Bruno
Tamalet, Aline
Thumerelle, Caroline
Vojtek, Anne-Marie
Escalier, Denise
Coste, André
de Blic, Jacques
Clément, Annick
Escudier, Estelle
Amselem, Serge

June 2012

International audienceBackground: CCDC39 and CCDC40 genes have recently been implicated in primary c...

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Pennarun, Gaëlle
Escudier, Estelle
Chapelin, Catherine
Bridoux, Anne-Marie
Cacheux, Valère
Roger, Gilles
Clément, Annick
Goossens, Michel
Amselem, Serge
Duriez, Bénédicte

December 1999

SummaryPrimary ciliary dyskinesia (PCD) is a group of heterogeneous disorders of unknown origin, usu...