CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
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 …
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
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous autosomal recessive disorder
characterized by recurrent infections of the respiratory tract associated with the abnormal …
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, …
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 …
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 (…
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 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 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-…
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 …
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-…
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 …
chronic destructive respiratory tract disease. In about 50 % of cases it is associated with situs …