Sperm defects in primary ciliary dyskinesia and related causes of male infertility
The core axoneme structure of both the motile cilium and sperm tail has the same
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …
ultrastructural 9+ 2 microtubular arrangement. Thus, it can be expected that genetic defects …
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease
MR Knowles, LA Daniels, SD Davis… - American journal of …, 2013 - atsjournals.org
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile
cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately …
cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately …
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
JS Lucas, A Barbato, SA Collins… - European …, 2017 - Eur Respiratory Soc
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …
Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society clinical practice guideline
AJ Shapiro, SD Davis, D Polineni… - American journal of …, 2018 - atsjournals.org
Background: This document presents the American Thoracic Society clinical practice
guidelines for the diagnosis of primary ciliary dyskinesia (PCD). Target Audience: Clinicians …
guidelines for the diagnosis of primary ciliary dyskinesia (PCD). Target Audience: Clinicians …
[PDF][PDF] De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry
J Wallmeier, D Frank, A Shoemark… - The American Journal of …, 2019 - cell.com
Hydrocephalus is one of the most prevalent form of developmental central nervous system
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …
[HTML][HTML] Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies
V Mirra, C Werner, F Santamaria - Frontiers in pediatrics, 2017 - frontiersin.org
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive
inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1 …
inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1 …
Diagnosis and management of primary ciliary dyskinesia
JS Lucas, A Burgess, HM Mitchison, E Moya… - Archives of disease in …, 2014 - adc.bmj.com
Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia
characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility …
characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility …
Diagnosis and management of rhinosinusitis: a practice parameter update
AT Peters, S Spector, J Hsu, DL Hamilos… - Annals of Allergy …, 2014 - annallergy.org
Rhinosinusitis is one of the most commonly diagnosed diseases in the United States.
Analysis of the Centers for Disease Control and Preventionesponsored 2010 US National …
Analysis of the Centers for Disease Control and Preventionesponsored 2010 US National …
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
J Raidt, J Wallmeier, R Hjeij… - European …, 2014 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory
tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently …
tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently …
[PDF][PDF] CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation
A diverse family of cytoskeletal dynein motors powers various cellular transport systems,
including axonemal dyneins generating the force for ciliary and flagellar beating essential to …
including axonemal dyneins generating the force for ciliary and flagellar beating essential to …