Results 31 to 40 of about 12,876 (273)

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
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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

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]

, 2017
The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit, A Hameed, AF Wright, AI Hollander den, B Kennedy, BW Draper, C Insinna, C Turney, CA Murga-Zamalloa, CM Louie, CS Mellersh, D Deretic, D Mustafi, DH Hong, EM Morrow, F Liu, G Stearns, G Ying, H Patil, H Wang, HH Arts, J Kim, J Wang, J Won, JC Booij, JE Westfall, JM Corless, JP Boylan, KL Cerveny, KL Coene, L Sang, MM Humphries, MV Nachury, O Rinner, OL Moritz, P Castagnet, PD Alfinito, PH Balm, R Bachmann-Gagescu, R Roepman, R Roepman, S Gerber, SC Neuhauss, SE Brockerhoff, SR Patnaik, TA Mavlyutov, TP Dryja, V Traverso, VS Lopes, X Shu, X Shu, X Shu., Y Wada., Y Zhao, YV Makhankov   +54 more
core   +4 more sources

The nonmotile ciliopathies [PDF]

Genetics in Medicine, 2009
Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field,
Jonathan L, Tobin, Philip L, Beales
openaire   +2 more sources

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

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

Characterizing the morbid genome of ciliopathies [PDF]

, 2016
Background Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome ...
A Poretti, AM Fry, AM Waters, Amal Al Hashem, Anas M. Alazami, Anason Halees, Andre Megarbane, Basudha Basu, Brahim Tabarki, C Bergmann, C Knopp, C Wright, CJ Westlake, Clare V. Logan, Colin A. Johnson, DA Parfitt, David A. Parry, Dorota Monies, DU Mick, Eissa Faqeih, F Tissir, Firdous M. Abdulwahab, Fowzan S. Alkuraya, FS Alkuraya, FS Alkuraya, FS Alkuraya, G Wheway, Hadeel Alsharif, Heba Morsy, Hisham Alkuraya, K Szymanska, Karsten Boldt, Katarzyna Szymanska, KB Schou, KL Coene, L Abu-Safieh, L Baala, L Sang, M Toriyama, MA Parisi, Maha Alnemer, Mais Hashem, Marius Ueffing, MG Saudi, MH Farkas, Mohamed Abouelhoda, Mohamed El-Kalioby, Mohammed A. Aldahmesh, Mohammed Al-Owain, Mohammed Zain Seidahmed, MS Zaki, Muneera Al-Husain, Mustafa A. Salih, MV Nachury, Nada Al Tassan, Nada Derar, Neama Meriki, Niema Ibrahim, Nisha Patel, Nour Ewida, P Beales, R Rao Damerla, R Roepman, R Shaheen, Ranad Shaheen, Rawda Sonbul, S Ramsbottom, Saad AlShahwan, Saeed Al Tala, SM Ware, SP Choksi, T Ben‐Omran, Tariq Faquih, TJ Dam van, Y Muto, ZA Abdelhamed   +75 more
core   +1 more source