Results 1 to 10 of about 16,529 (304)

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis [PDF]

Frontiers in Genetics, 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 ...
Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Maciej R. Krawczyński, Machteld M. Oud, Machteld M. Oud   +18 more
doaj   +3 more sources

Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome

Frontiers in Genetics, 2022
Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz, Tamara D. S. Rusterholz, Claudia Hofmann, Claudia Hofmann, Ruxandra Bachmann-Gagescu, Ruxandra Bachmann-Gagescu   +5 more
doaj   +2 more sources

PATJ deficiency leads to cystic kidney disease and related ciliopathies [PDF]

HGG Advances
Summary: Cystic kidney disease and related ciliopathies are caused by pathogenic variants in genes that commonly result in ciliary dysfunction. For a substantial number of individuals affected by those cilia-related diseases, the causative gene remains ...
Daniel Epting, Daniela A. Braun, Eva Decker, Elisabeth Ott, Tobias Eisenberger, Nadine Bachmann, Pavel Nedvetsky, Michael P. Krahn, Friedhelm Hildebrandt, Carsten Bergmann   +9 more
doaj   +2 more sources

Nephronophthisis: a genetically diverse ciliopathy. [PDF]

, 2011
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults.
Eley, L., Hynes, A.M., Sayer, J.A., Simms, R.J.   +3 more
core   +6 more sources

CiliOPD: a ciliopathy-associated COPD endotype

Respiratory Research, 2021
The pathophysiology of chronic obstructive pulmonary disease (COPD) relies on airway remodelling and inflammation. Alterations of mucociliary clearance are a major hallmark of COPD caused by structural and functional cilia abnormalities.
Jeanne-Marie Perotin, Myriam Polette, Gaëtan Deslée, Valérian Dormoy   +3 more
doaj   +2 more sources

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

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   +2 more sources

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture [PDF]

Nature Communications
Cilia are essential organelles, and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis, and all but one subunit of the CPLANE ...
Neftalí Vazquez, Chanjae Lee, Irene Valenzuela, Thao P. Phan, Camille Derderian, Marcelo Chávez, Nancie A. Mooney, Janos Demeter, Mohammad Ovais Aziz-Zanjani, Ivon Cusco, Marta Codina, Núria Martínez-Gil, Diana Valverde, Carlos Solarat, Ange-Line Buel, Cristel Thauvin-Robinet, Elisabeth Steichen, Isabel Filges, Pascal Joset, Julie De Geyter, Krishna Vaidyanathan, Tynan P. Gardner, Michinori Toriyama, Edward M. Marcotte, Kevin Drew, Elle C. Roberson, Peter K. Jackson, Jeremy F. Reiter, Eduardo F. Tizzano, John B. Wallingford   +29 more
doaj   +2 more sources

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Nature Cell Biology, 2015
Gabrielle Wheway, Miriam Schmidts, Dorus A Mans   +2 more
exaly   +3 more sources

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

HGG Advances, 2021
Summary: The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell ...
Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty   +19 more
doaj   +1 more source

IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene, ofd1

Cell & Bioscience, 2023
Background The cilia are microtubule-based organelles that protrude from the cell surface. Abnormalities in cilia result in various ciliopathies, including polycystic kidney disease (PKD), Bardet-Biedl syndrome (BBS), and oral-facial-digital syndrome ...
Hye In Ka, Mina Cho, Seung-Hae Kwon, Se Hwan Mun, Sora Han, Min Jung Kim, Young Yang   +6 more
doaj   +1 more source