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

AC Merveille, EE Davis, A Becker-Heck, M Legendre… - Nature …, 2011 - nature.com
Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by recurrent infections
of the upper and lower respiratory tract, reduced fertility in males and situs inversus in …

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

A Becker-Heck, IE Zohn, N Okabe, A Pollock… - Nature …, 2011 - nature.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous autosomal recessive disorder
characterized by recurrent infections of the respiratory tract associated with the abnormal …

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

JR Panizzi, A Becker-Heck, VH Castleman… - Nature …, 2012 - nature.com
Cilia are essential for fertilization, respiratory clearance, cerebrospinal fluid circulation and
establishing laterality 1 . Cilia motility defects cause primary ciliary dyskinesia (PCD, …

[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 primary …

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

…, MJ Hazucha, NT Loges, H Olbrich, A Becker-Heck… - Thorax, 2012 - thorax.bmj.com
Rationale Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically
heterogeneous disorder characterised by oto-sino-pulmonary disease and situs abnormalities (…

Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

D Antony, A BeckerHeck, 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 …

[HTML][HTML] Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

AA Bizet, A Becker-Heck, R Ryan, K Weber… - Nature …, 2015 - nature.com
Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused
by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor-…

Dynein dysfunction as a cause of primary ciliary dyskinesia and other ciliopathies

A Becker-Heck, NT Loges, H Omran - Dyneins, 2012 - Elsevier
Publisher Summary Cilia are highly conserved organelles extending from almost every cell
type of the human body. Their core structure, the axoneme, consists of nine doublet …

Immunofluorescence microscopy (IFM) analysis of primary ciliary dyskinesia (PCD) patients with suspected inner dynein arm defects (IDA)

R Hjeij, NT Loges, A Becker-Heck, H Omran - Cilia, 2012 - Springer
Primary ciliary dyskinesia (PCD), characterized by abnormal motility of cilia or flagella, is
caused by defects of structural components such as inner dynein arms (IDAs). Recently high-…

CCDC103 encodes a novel cilia dynein arm factor that is mutated in primary ciliary dyskinesia

C Werner, A Becker-Heck, JR Panizzi, VH Castleman… - 2012 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a genetically heterogenous disorder characterized by
chronic destructive respiratory tract disease. In about 50 % of cases it is associated with situs …