Impact of primary ciliary dyskinesia: Beyond sinobronchial syndrome in Japan
N Keicho, M Hijikata, A Miyabayashi… - Respiratory …, 2024 - Elsevier
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired motile
cilia function, particularly in the upper and lower airways. To date, more than 50 causative …
cilia function, particularly in the upper and lower airways. To date, more than 50 causative …
The challenge of diagnosing primary ciliary dyskinesia: a commentary on various causative genes and their pathogenic variants
N Keicho, K Morimoto, M Hijikata - Journal of Human Genetics, 2023 - nature.com
Primary ciliary dyskinesia (PCD) is a rare genetic disorder that causes abnormalities in
mucociliary clearance in the respiratory epithelium (OMIM: 244400), leading to recurrent …
mucociliary clearance in the respiratory epithelium (OMIM: 244400), leading to recurrent …
The Korean genetic diagnosis program for rare disease phase II: Outcomes of a 6-year national project
MJ Kim, B Kim, H Lee, JS Lee, SW Chae… - European Journal of …, 2023 - nature.com
Abstract The Korean Genetic Diagnosis Program for Rare Disease (KGDP) enrolled 1890
patients with rare diseases between March 2017 and October 2022. Children and …
patients with rare diseases between March 2017 and October 2022. Children and …
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia
Autosomal recessive CARD9 deficiency can underly deep and superficial fungal diseases.
We identified two Japanese patients, suffering from superficial and invasive Candida …
We identified two Japanese patients, suffering from superficial and invasive Candida …
[HTML][HTML] Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings
J Oh, JS Lee, MS Park, YA Kang, HJ Cho… - Yonsei medical …, 2024 - ncbi.nlm.nih.gov
Purpose To assess the diagnostic potential of whole-exome sequencing (WES) and
elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the …
elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the …
Primary Ciliary Dyskinesia as a common cause of bronchiectasis in the Canadian Inuit population
D Morris-Rosendahl - Authorea Preprints, 2023 - essopenarchive.org
with other laboratory and clinical investigations. Early and accurate diagnosis of inherited
conditions generally leads to better medical care for patients and their families, with …
conditions generally leads to better medical care for patients and their families, with …
Exonic copy number variations in rare genetic disorders
MJ Kim - Journal of Genetic Medicine, 2023 - KoreaMed
Exonic copy number variation (CNV), involving deletions and duplications at the gene's
exon level, presents challenges in detection due to their variable impact on gene function …
exon level, presents challenges in detection due to their variable impact on gene function …