Laterality defects in primary ciliary dyskinesia: relationship to ultrastructural defect or genotype
AT Barber, AJ Shapiro, SD Davis… - Annals of the …, 2023 - atsjournals.org
… Establishment of the normal asymmetric left–right axis during … genes (biallelic variants for
autosomal recessive genes) (1–3). … Randomization of left-right asymmetry and congenital heart …
autosomal recessive genes) (1–3). … Randomization of left-right asymmetry and congenital heart …
Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia
N Baz-Redón, S Rovira-Amigo, I Paramonov… - Archivos de …, 2021 - Elsevier
… We found 52 different variants, 36 of which were not … caused by variants in different genes
encoding ciliary axoneme proteins. Most genes associated with PCD are autosomal recessive, …
encoding ciliary axoneme proteins. Most genes associated with PCD are autosomal recessive, …
Identification of Potential Causal gene variants for Primary Ciliary Dyskinesia with Whole exome sequencing in an Arab Family
RSS Bahattab - 2022 - platform.almanhal.com
… identified to follow the autosomal recessive mode of inheritance, with … The function of the
ZMYND10 protein is not fully understood … with randomization of left/right body asymmetry. The …
ZMYND10 protein is not fully understood … with randomization of left/right body asymmetry. 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
… recessive disorder characterized by motile cilia dysfunction. Clinical manifestations of PCD
include chronic upper and lower airway disease, left–right … -causing genes are not screened …
include chronic upper and lower airway disease, left–right … -causing genes are not screened …
Restoring Ciliary Function: Gene Therapeutics for Primary Ciliary Dyskinesia
… , ciliary motility plays a crucial role in the formation of left/right … The mode of inheritance of
PCD is autosomal recessive, except for (1… SPEF2- and HYDIN-mutant cilia lack the central pair-…
PCD is autosomal recessive, except for (1… SPEF2- and HYDIN-mutant cilia lack the central pair-…
Ciliary dyneins and dynein related ciliopathies
D Antony, HG Brunner, M Schmidts - Cells, 2021 - mdpi.com
… left right body axis determination [33]. There are two main perceptions by which initial body
asymmetry is … Primary ciliary dysfunction can cause defects in sensory and visceral organs, …
asymmetry is … Primary ciliary dysfunction can cause defects in sensory and visceral organs, …
CHEST Reviews: Primary Ciliary Dyskinesia
MG O'Connor, R Mosquera, H Metjian, M Marmor… - Chest Pulmonary, 2023 - Elsevier
… There are limited randomized controlled trials in PCD patient populations… left-right asymmetry.
Curr Top Dev Biol. 2008;85:151-74. … cases caused by DNAH11 and HYDIN variants. (27) • …
Curr Top Dev Biol. 2008;85:151-74. … cases caused by DNAH11 and HYDIN variants. (27) • …
[PDF][PDF] Primary ciliary dyskinesia with normal ultrastructure
A Shoemark, T Burgoyne, R Kwan, M Dixon, MP Patel… - discovery.dundee.ac.uk
… Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right
body asymmetry. Am J Hum Genet. 2012;91(4):672-84. …
body asymmetry. Am J Hum Genet. 2012;91(4):672-84. …
Bi-allelic variant c. 8638_8658dup in HYDIN causes bronchiectasis in two siblings
P Radhakrishnan, R Magazine, VU Surendra, N Mathur… - Gene Reports, 2020 - Elsevier
… previously reported patients with primary ciliary dyskinesia with variants in HYDIN. … Recessive
HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body …
HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body …
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
JS Lucas, A Barbato, SA Collins… - European …, 2017 - Eur Respiratory Soc
… of patients who might enter randomised controlled trials of … disease-causing mutations in
autosomal recessive PCD or … associated protein HYDIN, do not result in laterality defects. In …
autosomal recessive PCD or … associated protein HYDIN, do not result in laterality defects. In …