[PDF][PDF] Mutations in C11orf70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to defects of outer and inner dynein arms
IM Höben, R Hjeij, H Olbrich, GW Dougherty… - The American Journal of …, 2018 - cell.com
Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility,
and randomization of the left/right body axis as a result of defects of motile cilia and sperm …
and randomization of the left/right body axis as a result of defects of motile cilia and sperm …
[PDF][PDF] C11orf70 mutations disrupting the intraflagellar transport-dependent assembly of multiple axonemal dyneins cause primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder
characterized by destructive respiratory disease and laterality abnormalities due to …
characterized by destructive respiratory disease and laterality abnormalities due to …
[PDF][PDF] Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia
E Kott, P Duquesnoy, B Copin, M Legendre… - The American Journal of …, 2012 - cell.com
Primary ciliary dyskinesia (PCD) is a group of autosomal-recessive disorders resulting from
cilia and sperm-flagella defects, which lead to respiratory infections and male infertility. Most …
cilia and sperm-flagella defects, which lead to respiratory infections and male infertility. Most …
[PDF][PDF] Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia
C Austin-Tse, J Halbritter, MA Zariwala… - The American Journal of …, 2013 - cell.com
Primary ciliary dyskinesia (PCD) is caused when defects of motile cilia lead to chronic
airway infections, male infertility, and situs abnormalities. Multiple causative PCD mutations …
airway infections, male infertility, and situs abnormalities. Multiple causative PCD mutations …
[PDF][PDF] Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
NT Loges, H Olbrich, A Becker-Heck, K Häffner… - The American Journal of …, 2009 - cell.com
Genetic defects affecting motility of cilia and flagella cause chronic destructive airway
disease, randomization of left-right body asymmetry, and, frequently, male infertility in …
disease, randomization of left-right body asymmetry, and, frequently, male infertility in …
[PDF][PDF] Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia
P Duquesnoy, E Escudier, L Vincensini… - The American Journal of …, 2009 - cell.com
Cilia and flagella are evolutionarily conserved structures that play various physiological
roles in diverse cell types. Defects in motile cilia result in primary ciliary dyskinesia (PCD) …
roles in diverse cell types. Defects in motile cilia result in primary ciliary dyskinesia (PCD) …
[PDF][PDF] DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm
NT Loges, H Olbrich, L Fenske, H Mussaffi… - The American Journal of …, 2008 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by
chronic destructive airway disease and randomization of left/right body asymmetry. Males …
chronic destructive airway disease and randomization of left/right body asymmetry. Males …
[PDF][PDF] Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
A Onoufriadis, T Paff, D Antony, A Shoemark… - The American Journal of …, 2013 - cell.com
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD),
characterized by chronic airway disease, infertility, and left-right laterality disturbances …
characterized by chronic airway disease, infertility, and left-right laterality disturbances …
[PDF][PDF] RSPH3 mutations cause primary ciliary dyskinesia with central-complex defects and a near absence of radial spokes
L Jeanson, B Copin, JF Papon, F Dastot-Le Moal… - The American Journal of …, 2015 - cell.com
Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive condition resulting from
structural and/or functional defects of the axoneme in motile cilia and sperm flagella. The …
structural and/or functional defects of the axoneme in motile cilia and sperm flagella. The …
Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
D Antony, A Becker‐Heck, MA Zariwala… - Human …, 2013 - Wiley Online Library
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by cilia
and sperm dysmotility. About 12% of cases show perturbed 9+ 2 microtubule cilia structure …
and sperm dysmotility. About 12% of cases show perturbed 9+ 2 microtubule cilia structure …