Primary ciliary dyskinesia
J Raidt, NT Loges, H Olbrich, J Wallmeier… - La Presse Médicale, 2023 - Elsevier
… of PCD with randomization of left-right asymmetry was … PCD causing genes with autosomal
recessive inheritance. … disease causing variants in CP associated genes such as HYDIN lack …
recessive inheritance. … disease causing variants in CP associated genes such as HYDIN lack …
Primary ciliary dyskinesia
A Shoemark, K Harman - Seminars in respiratory and critical …, 2021 - thieme-connect.com
… The first international randomized controlled trial in PCD has … As an example HYDIN-mutant
sperm cells are predominantly … recessive fashion and biallelic pathogenic mutations are …
sperm cells are predominantly … recessive fashion and biallelic pathogenic mutations are …
[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
… axoneme was not altered in C11orf70 mutant cilia (Figure S8). However, TTC25 localization
along the ciliary axoneme was not altered … Recessive HYDIN mutations cause primary ciliary …
along the ciliary axoneme was not altered … Recessive HYDIN mutations cause primary ciliary …
[HTML][HTML] Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review
B Peng, Y Gao, J Xie, X He, C Wang, J Xu… - Orphanet Journal of Rare …, 2022 - Springer
… -recessive or X-linked disorder caused by mutations in genes … with previous studies except
that HYDIN other than DNAI1 is … or Europe do not screen for HYDIN mutations or have limited …
that HYDIN other than DNAI1 is … or Europe do not screen for HYDIN mutations or have limited …
HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians
AJ Shapiro, G Sillon, D D'Agostino, L Baret… - Annals of the …, 2023 - atsjournals.org
… an autosomal-recessive pattern and encoding a ciliary protein in … residing in HYDIN and not
in HYDIN2, but we did not perform copy … SPEF2- and HYDIN-mutant cilia lack the central pair-…
in HYDIN2, but we did not perform copy … SPEF2- and HYDIN-mutant cilia lack the central pair-…
Primary Ciliary Dyskinesia
WB Wee, BA Kinghorn, SD Davis, TW Ferkol… - …, 2024 - publications.aap.org
… includes a myriad of left-right organ laterality defects and … disease-causing variants in
HYDIN or in other CA genes may … (CLEAN-PCD): a multinational, phase 2, randomised, double…
HYDIN or in other CA genes may … (CLEAN-PCD): a multinational, phase 2, randomised, double…
Primary ciliary dyskinesia: a major player in a bigger game
R Bhatt, C Hogg - Breathe, 2020 - Eur Respiratory Soc
… a strong history for PCD but do not follow the “norm”, we … HYDIN mutation is an excellent
example where tomography … are associated with randomisation of left–right asymmetry or situs …
example where tomography … are associated with randomisation of left–right asymmetry or situs …
[HTML][HTML] Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice
E Cant, A Shoemark, JD Chalmers - Current Pulmonology Reports, 2024 - Springer
… , as cilia are important in the left–right symmetry during … HYDIN mutations in PCD patients
can present with abnormal … A multicentre randomised trial of prophylactic azithromycin …
can present with abnormal … A multicentre randomised trial of prophylactic azithromycin …
[HTML][HTML] Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
A Fleming, M Galey, L Briggs, M Edwards… - European Journal of …, 2024 - nature.com
… the HYDIN axonemal central pair apparatus protein and biallelic HYDIN variants cause PCD
… Unlike most other PCD genes, recessive HYDIN variants do not cause laterality defects, but …
… Unlike most other PCD genes, recessive HYDIN variants do not cause laterality defects, but …
[PDF][PDF] Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey
C Koşukcu - researchgate.net
… PCD is predominantly inherited as an autosomal recessive … composure of the central pair
(HYDIN), radial spokes (RSPH1, … with randomization of left/right body asymmetry. Am J Hum …
(HYDIN), radial spokes (RSPH1, … with randomization of left/right body asymmetry. Am J Hum …