Results 21 to 30 of about 7,870 (178)

Hepatic Ciliopathy Syndromes

Clinical Liver Disease, 2021
Content available: Author Interview and Audio Recording.
Tamir Diamond, Noor Nema, Jessica Wen
openaire   +2 more sources

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa

Orphanet Journal of Rare Diseases, 2019
Background To evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the ...
Vitor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy K. Duong, Vinit B. Mahajan, Stephen H. Tsang   +6 more
doaj   +1 more source

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

Ciliopathies in pediatric endocrinology

Annals of Pediatric Endocrinology & Metabolism, 2023
Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects. Identification of new genes and mutations is the major challenge in development of a tailored and appropriate therapy.
Ilenia Cicolini, Annalisa Blasetti, Francesco Chiarelli   +2 more
openaire   +3 more sources

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

Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes

Scientific Reports, 2022
We searched a database of single-gene knockout (KO) mice produced by the International Mouse Phenotyping Consortium (IMPC) to identify candidate ciliopathy genes.
Kendall Higgins, Bret A. Moore, Zorana Berberovic, Hibret A. Adissu, Mohammad Eskandarian, Ann M. Flenniken, Andy Shao, Denise M. Imai, Dave Clary, Louise Lanoue, Susan Newbigging, Lauryl M. J. Nutter, David J. Adams, Fatima Bosch, Robert E. Braun, Steve D. M. Brown, Mary E. Dickinson, Michael Dobbie, Paul Flicek, Xiang Gao, Sanjeev Galande, Anne Grobler, Jason D. Heaney, Yann Herault, Martin Hrabe de Angelis, Hsian-Jean Genie Chin, Fabio Mammano, Chuan Qin, Toshihiko Shiroishi, Radislav Sedlacek, J.-K. Seong, Ying Xu, The IMPC Consortium, K. C. Kent Lloyd, Colin McKerlie, Ala Moshiri   +35 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

Nephronophthisis-Associated Ciliopathies [PDF]

Journal of the American Society of Nephrology, 2007
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent genetic cause of end-stage kidney disease in the first three decades of life. Contrary to polycystic kidney disease, NPHP shows normal or diminished kidney size, cysts are concentrated at the corticomedullary junction, and tubulointerstitial fibrosis is ...
Friedhelm, Hildebrandt, Weibin, Zhou
openaire   +2 more sources

Ciliopathies

Klinische Monatsblatter fur Augenheilkunde, 2018
Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. Isolated or syndromic retinal dystrophies are the most common ocular manifestation of ciliopathies. The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most
Fabien Ho, Francis Fortin
openaire   +4 more sources