Faculty Opinions recommendation of Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

2015 ◽  
Author(s):  
Nicholas Katsanis
Keyword(s):  
Chlamydomonas Reinhardtii ◽  
Primary Ciliary Dyskinesia ◽  
Human Gene ◽  
Loss Of Function ◽  
Ciliary Dyskinesia

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

1999 ◽  
Vol 65 (6) ◽  
pp. 1508-1519 ◽  
Author(s):  
Gaëlle Pennarun ◽  
Estelle Escudier ◽  
Catherine Chapelin ◽  
Anne-Marie Bridoux ◽  
Valère Cacheux ◽  
...  
Keyword(s):  
Chlamydomonas Reinhardtii ◽  
Primary Ciliary Dyskinesia ◽  
Human Gene ◽  
Loss Of Function ◽  
Ciliary Dyskinesia

scholarly journals Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

2009 ◽  
Vol 85 (6) ◽  
pp. 890-896 ◽  
Author(s):  
Philippe Duquesnoy ◽  
Estelle Escudier ◽  
Laetitia Vincensini ◽  
Judy Freshour ◽  
Anne-Marie Bridoux ◽  
...  
Keyword(s):  
Chlamydomonas Reinhardtii ◽  
Primary Ciliary Dyskinesia ◽  
Loss Of Function ◽  
Human Ortholog ◽  
Ciliary Dyskinesia

scholarly journals Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

2013 ◽  
Vol 93 (3) ◽  
pp. 561-570 ◽  
Author(s):  
Esther Kott ◽  
Marie Legendre ◽  
Bruno Copin ◽  
Jean-François Papon ◽  
Florence Dastot-Le Moal ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Central Complex ◽  
Loss Of Function ◽  
Radial Spoke ◽  
Ciliary Dyskinesia

scholarly journals Mutations in C11ORF70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defects

2017 ◽  
Author(s):  
Inga M. Höben ◽  
Rim Hjeij ◽  
Heike Olbrich ◽  
Gerard W. Dougherty ◽  
Tabea Menchen ◽  
...  
Keyword(s):  
Male Infertility ◽  
Primary Ciliary Dyskinesia ◽  
Genetic Defect ◽  
Clinical Importance ◽  
Airway Disease ◽  
Cytoplasmic Dynein ◽  
Loss Of Function ◽  
Reading Frame ◽  
Dynein Arms ◽  
Ciliary Dyskinesia

AbstractPrimary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility and randomization of the left/right body axis caused by defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open reading frame C11ORF70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11ORF70 cause immotility of respiratory cilia and sperm flagella, respectively, due to loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11ORF70 is involved in cytoplasmic assembly of dynein arms. Expression analyses of C11ORF70 showed that C11ORF70 is expressed in ciliated respiratory cells and that the expression of C11ORF70 is upregulated during ciliogenesis, similar to other previously described cytoplasmic dynein arm assembly factors. Furthermore, C11ORF70 shows an interaction with cytoplasmic ODA/IDA assembly factor DNAAF2, supporting our hypothesis that C11ORF70 is a novel preassembly factor involved in the pathogenesis of PCD. The identification of a novel genetic defect that causes PCD and male infertility is of great clinical importance as well as for genetic counselling.

scholarly journals TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

2020 ◽  
Vol 106 (2) ◽  
pp. 153-169 ◽  
Author(s):  
Lucie Thomas ◽  
Khaled Bouhouche ◽  
Marjorie Whitfield ◽  
Guillaume Thouvenin ◽  
Andre Coste ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Loss Of Function ◽  
Motile Cilia ◽  
Ciliary Dyskinesia

scholarly journals The expanding phenotype of OFD1 ‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

2019 ◽  
Vol 7 (9) ◽  
Author(s):  
William B. Hannah ◽  
Suzanne DeBrosse ◽  
BreAnna Kinghorn ◽  
Steven Strausbaugh ◽  
Moira L. Aitken ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Loss Of Function ◽  
Ciliary Dyskinesia

scholarly journals Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

2012 ◽  
Vol 91 (5) ◽  
pp. 958-964 ◽  
Author(s):  
Esther Kott ◽  
Philippe Duquesnoy ◽  
Bruno Copin ◽  
Marie Legendre ◽  
Florence Dastot-Le Moal ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
Loss Of Function ◽  
Dynein Arms ◽  
Ciliary Dyskinesia
Sign in / Sign up

Export Citation Format

Share Document