Zobrazeno 1 - 10
of 5 259
pro vyhledávání: '"primary ciliary dyskinesia"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Dysfunction of motile cilia can impair mucociliary clearance in the airway and result in primary ciliary dyskinesia (PCD). We previously showed that mutations in central pair apparatus (CPA) genes perturb ciliary motility and result in PCD i
Externí odkaz:
https://doaj.org/article/45e7917a3d85434eaec4c01203fb4161
Autor:
Anna Zlotina, Svetlana Barashkova, Sergey Zhuk, Rostislav Skitchenko, Dmitrii Usoltsev, Polina Sokolnikova, Mykyta Artomov, Svetlana Alekseenko, Tatiana Simanova, Maria Goloborodko, Olga Berleva, Anna Kostareva
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Abstract Background Primary ciliary dyskinesia (PCD) is a group of rare genetically heterogeneous disorders caused by defective cilia and flagella motility. The clinical phenotype of PCD patients commonly includes chronic oto-sino-pulmonary disease,
Externí odkaz:
https://doaj.org/article/2a3baef4f04b48188f2cdc8384e1369f
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 368-374 (2024)
Primary ciliary dyskinesia (PCD) is a rare monogenic disorder primarily associated with structural and functional abnormalities of motile cilia. It is typically inherited in an autosomal recessive pattern. The disease affects multiple organs, and the
Externí odkaz:
https://doaj.org/article/1126336f14714409a5b60ade802fd4db
Autor:
Xiu-juan Yao, Qian Chen, Hong-ping Yu, Dan-dan Ruan, Shi-jie Li, Min Wu, Li-sheng Liao, Xin-fu Lin, Zhu-ting Fang, Jie-wei Luo, Bao-song Xie
Publikováno v:
BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disease characterized by recurrent respiratory infections. In clinical manifestations, DNAH5 (NM_001361.3) is one of the recessive pathogenic genes. Primary fam
Externí odkaz:
https://doaj.org/article/15b90ce4c538442da7531ae5b746bca1
Autor:
Huili Xue, Aili Yu, Lingji Chen, Qun Guo, Lin Zhang, Na lin, Xuemei Chen, Liangpu Xu, Hailong Huang
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract To evaluate the genetic etiology of fetal dextrocardia, associated ultrasound anomalies, and perinatal outcomes, we investigated the utility of whole exome sequencing (WES) for prenatal diagnosis of dextrocardia. Fetuses with dextrocardia we
Externí odkaz:
https://doaj.org/article/4e9121869dfe460f853c49305a3a7b07
Autor:
Samanvita Kaza, Darshna G Fulmali
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 07, Pp 01-05 (2024)
Kartagener’s Syndrome, alternatively known as Primary Ciliary Dyskinesia (PCD) is a rare and intricate inherited disorder that impacts the structure and function of cilia, leading to compromised mucociliary clearance. The defining features of this
Externí odkaz:
https://doaj.org/article/57850137e4a3404bb887cd90e5a51d4c
Publikováno v:
Radiology Case Reports, Vol 19, Iss 7, Pp 2741-2744 (2024)
Kartagener's Syndrome is a rare autosomal recessive genetic condition, that affects the structure and function of cilia and includes a condition of situs inversus, chronic sinusitis, and bronchiectasis associated sometimes with infertility.A young pa
Externí odkaz:
https://doaj.org/article/eed335559bf94fc081e48bc05b23d302
Autor:
Magdalena Anita Roszak, Anna Bręborowicz, Aleksandra Szczepankiewicz, Marcin Mikoś, Zuzanna Bukowy-Bieryłło, Barbara Więckowska, Laura Behan, Hanna Dmeńska, Joanna Goździk-Spychalska, Agata Nowicka, Ewa Sapiejka, Paulina Famulska, Elżbieta Gąsecka, Andrzej Pogorzelski, Irena Wojsyk-Banaszak
Publikováno v:
Advances in Respiratory Medicine, Vol 92, Iss 4, Pp 254-262 (2024)
In recent years, questionnaires were published in English to assess the quality of life of patients with PCD (Primary Ciliary Diskinesia) for adults, adolescents aged 13–17 years, and children aged 6–12 years and their caregivers. This study aime
Externí odkaz:
https://doaj.org/article/43b2a2ce852e444f86fe213a0f422568
Autor:
Kim Hoong Yap, Albert Yick Hou Lim, Biju Thomas, Carine Bonnard, Emmanuelle Szenker‐Ravi, Yan Ling Chong, Sudipto Roy, Bruno Reversade
Publikováno v:
Respirology Case Reports, Vol 12, Iss 11, Pp n/a-n/a (2024)
Abstract Reduced generation of multiple motile cilia (RGMC) represents a rare variant of Primary Ciliary Dyskinesia (PCD), associated with CYCLIN‐O (CCNO) mutations. We report a novel compound mutation in the CCNO gene in an adult Chinese Singapore
Externí odkaz:
https://doaj.org/article/156c0d8095544474aa09de75d71a11d6
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Primary ciliary dyskinesia (PCD) is a hereditary disorder characterized by defects in cilia that impair mucociliary clearance. This study focuses on PCD caused by mutations in the Cyclin O (CCNO) gene and reports on three cases involving Chinese chil
Externí odkaz:
https://doaj.org/article/d4af98c3e1d94f24b459e1a9404644ae