Results 31 to 40 of about 16,529 (304)

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis

Frontiers in Pharmacology, 2022
A timely diagnosis is a key challenge for many rare diseases. As an expanding group of rare and severe monogenic disorders with a broad spectrum of clinical manifestations, ciliopathies, notably renal ciliopathies, suffer from important underdiagnosis ...
Xiaoyi Chen, C. Faviez, Marc Vincent, Luis Briseño-Roa, H. Faour, J. Annereau, S. Lyonnet, M. Zaidan, S. Saunier, Nicolas Garcelon, A. Burgun   +10 more
semanticscholar   +1 more source

PIH1D3-knockout rats exhibit full ciliopathy features and dysfunctional pre-assembly and loading of dynein arms in motile cilia

Frontiers in Cell and Developmental Biology, 2023
Background: Recessive mutation of the X-linked gene, PIH1 domain-containing protein 3 (PIH1D3), causes familial ciliopathy. PIH1D3 deficiency is associated with the defects of dynein arms in cilia, but how PIH1D3 specifically affects the structure and ...
Tingting Zhang, Tingting Zhang, Shiquan Cui, Shiquan Cui, Xinrui Xiong, Xinrui Xiong, Ying Liu, Ying Liu, Qilin Cao, Qilin Cao, Xu-Gang Xia, Xu-Gang Xia, Hongxia Zhou, Hongxia Zhou   +13 more
doaj   +1 more source

A review of Alström syndrome: a rare monogenic ciliopathy.

Intractable & Rare Diseases Research, 2021
Alström syndrome is a rare monogenic ciliopathy caused by a mutation to the Alström syndrome 1 (ALMS1) gene. Alström syndrome has an autosomal recessive nature of inheritance.
A. Choudhury, I. Munonye, Kevin Paul Sanu, Nipa Islam, Cecilia Gadaga   +4 more
semanticscholar   +1 more source

Hepatic Ciliopathy Syndromes

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

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features. [version 2; peer review: 2 approved]

F1000Research, 2023
Background. Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with an estimated prevalence of 1 in 100,000. JS is characterized by hyperpnoea, hypotonia, ataxia, developmental delay and various neuropathological abnormalities in the brain ...
Gazmend Temaj, John A Sayer, Lidvana Spahiu, Thomas Liehr, Emir Behluli   +4 more
doaj   +1 more source

A ciliopathy complex builds distal appendages to initiate ciliogenesis

bioRxiv, 2021
Cells inherit two centrioles, the older of which is uniquely capable of generating a cilium. Using proteomics and super-resolved imaging, we identified a module which we term DISCO (DIStal centriole COmplex). DISCO components CEP90, MNR and OFD1 underlie
Dhivya Kumar, Addison B Rains, V. Herranz-Pérez, Quanlong Lu, Xiaoyu Shi, D. Swaney, Erica Stevenson, N. Krogan, B. Huang, Christopher J Westlake, J. García-Verdugo, B. Yoder, Jeremy F. Reiter   +12 more
semanticscholar   +1 more source

CPLANE Complex and Ciliopathies

Biomolecules, 2022
Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP) and the Hedgehog (Hh) signaling pathway.
Jesús Eduardo Martín-Salazar, Diana Valverde   +1 more
openaire   +4 more sources

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

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

Disease Models & Mechanisms, 2015
Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes.
Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger   +6 more
doaj   +1 more source

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source