Kartagener syndrome, current data on a classical disease. Case report.
Case Reports, 2018 Introduction: This article addresses the general aspects (pathophysiology, embryology, clinical presentation and prognosis) of the Kartagener syndrome (KS).
Sandra Viviana Gómez-Correa +2 more
doaj +1 more source
Kartagener Syndrome With Focal Segmental Glomerulosclerosis [PDF]
, 2013 Primary ciliary dyskinesia is characterized by congenital impairment of mucociliary clearance. Kartagener syndrome (KS) is a clinical variant of primary ciliary dyskinesia which is involved in situs inversus associated with chronic respiratory infections.
Doroushi, Behzad +2 more
core
Chlamydomonas DYX1C1/PF23 is essential for axonemal assembly and proper morphology of inner dynein arms [PDF]
, 2017 Cytoplasmic assembly of ciliary dyneins, a process known as preassembly, requires numerous non-dynein proteins, but the identities and functions of these proteins are not fully elucidated.
Alford Lea M. +13 more
core +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Primary Ciliary Dyskinesia : A Case Presentation and A Current Review
Siriraj Medical Journal, 2020 We present a 14 year-old girl with a history of chronic rhinorrhoea and nasal obstruction. Physical findings showed huge nasal polyp with broadening of the nasal bridge, perforation of the left ear drum and a right middle ear effusion.
Weerachai Tantinikorn +2 more
doaj
ZMYND10 functions in a chaperone relay during axonemal dynein assembly [PDF]
, 2018 Molecular chaperones promote the folding and macromolecular assembly of a diverse set of ‘client’ proteins. How ubiquitous chaperone machineries direct their activities towards specific sets of substrates is unclear.
Dodd Daniel O +17 more
core +8 more sources
International Variation in Preoperative SNOT‐22 Scores: A Scoping Review and Exploratory Analysis
International Forum of Allergy &Rhinology, EarlyView.
Jaynelle Gao +8 more
wiley +1 more source
Clinical Genetics, EarlyView.Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart +17 more
wiley +1 more source
Exploring the role of fallopian ciliated cells in the pathogenesis of high-grade serous ovarian cancer [PDF]
, 2018 High-grade serous epithelial ovarian cancer (HGSOC) is the fifth leading cause of cancer death in women and the first among gynecological malignancies. Despite an initial response to standard chemotherapy, most HGSOC patients relapse.
Baldassarre G +9 more
core +1 more source
Etiological Work-Up for Adults with Bronchiectasis: A Predictive Diagnostic Score for Primary Ciliary Dyskinesia and Cystic Fibrosis [PDF]
, 2021 F. Schlemmer +11 more
openalex +1 more source