Results 21 to 30 of about 9,217 (165)

A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center

Diagnostics, 2021
Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by dyskinetic cilia. Respiratory symptoms usually start at birth. The lack of diagnostic gold standard tests is challenging, as PCD diagnostics requires different methods with high ...
Loretta Müller, Sibel T. Savas, Stefan A. Tschanz, Andrea Stokes, Anaïs Escher, Mirjam Nussbaumer, Marina Bullo, Claudia E. Kuehni, Sylvain Blanchon, Andreas Jung, Nicolas Regamey, Beat Haenni, Martin Schneiter, Jonas Ingold, Elisabeth Kieninger, Carmen Casaulta, Philipp Latzin, on behalf of the Swiss PCD Research Group   +17 more
doaj   +1 more source

DataSheet1_Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis.docx

, 2022
Ciliopathies are rare congenital disorders, caused by defects in the cilium, that cover a broad clinical spectrum. A subgroup of ciliopathies showing significant phenotypic overlap are known as skeletal ciliopathies and include Jeune asphyxiating ...
Maciej R. Krawczyński (13009764), Ewa Obersztyn (4745613), Ewelina Bukowska-Olech (8390463), Cenna Doornbos (13009752), Anna Wawrocka (8390466), Machteld M. Oud (2308225), Anna Latos-Bieleńska (536271), Ronald van Beek (13009755), Joanna Walczak-Sztulpa (8390460), Ernie M. H. F. Bongers (13009761), Aleksander Jamsheer (8390469), Miriam Schmidts (166276), Anna Sowińska-Seidler (9555326), Ryszard Grenda (13009758)   +13 more
core   +1 more source

Bardet–Biedl syndrome with choledochal cyst: Rare association with a novel variant

Journal of Indian Association of Pediatric Surgeons, 2023
Bardet–Biedl syndrome is an autosomal-recessive ciliopathic disorder affecting multiple organ systems. Characteristic features include progressive retinal dystrophy, obesity, polydactyly hypogonadism, mental retardation, and renal disorders.
Saket Kumar, A G Harisankar, Nidhi Singh, Singh Rakesh Kumar, Nilay Mayank   +4 more
doaj   +1 more source

Nephronophthisis [PDF]

Childhood Kidney Diseases, 2015
NPHP is the most common monogenic cause of CKD in children or adolescents. Extra-renal symptoms often accompany, therefore examination of retina, hearing, and skeleton is necessary in patients with CKD with insidious onset.
Hee Gyung Kang, Hae Il Cheong
doaj   +1 more source

Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis

Frontiers in Molecular Biosciences, 2023
Background: Primary ciliary dyskinesia (PCD; MIM 242650) is a rare genetic disorder characterized by malfunction of the motile cilia resulting in reduced mucociliary clearance of the airways.
Andre Schramm, Johanna Raidt, Anika Gross, Maik Böhmer, Achim Georg Beule, Heymut Omran   +5 more
doaj   +1 more source

Golgi Dysfunctions in Ciliopathies

Cells, 2022
The Golgi apparatus (GA) is essential for intracellular sorting, trafficking and the targeting of proteins to specific cellular compartments. Anatomically, the GA spreads all over the cell but is also particularly enriched close to the base of the ...
Justine Masson, Vincent El Ghouzzi
doaj   +1 more source

Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function.

PLoS Genetics, 2016
Zfp423 encodes a 30-zinc finger transcription factor that intersects several canonical signaling pathways. Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and ...
Chen-Jei Hong, Bruce A Hamilton
doaj   +1 more source

Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children

Frontiers in Pediatrics, 2023
BackgroundNeonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in DCDC2, commonly requiring liver transplantation (LT) for decompensated biliary cirrhosis in childhood.MethodsThe ...
Xia Wei, Yuan Fang, Jian-She Wang, Yi-Zhen Wang, Yuan Zhang, Kuerbanjiang Abuduxikuer, Lian Chen   +6 more
doaj   +1 more source

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype

, 2021
Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function
Sehime G. Temel, Bahar Kaymakamzade, Gulten Tuncel, Yeliz Engindereli, Mahmut Cerkez Ergoren   +4 more
core   +1 more source

A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies. [PDF]

Traffic
Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Frisby D, Misri G, Naslavsky N, Caplan S.   +3 more
europepmc   +2 more sources