Results 11 to 20 of about 9,217 (165)

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 Bruel, 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

cause a motile ciliopathy‐like syndrome

, 2023
Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting the brain, kidney, and ...
Green, Ben, Ruxandra Neatu, Powell, Laura, Devlin, Laura A, Neatu, Ruxandra, Barroso-Gil, Miguel, Miles, Colin G, Ben Green, Rock, Simon A, Laura A. Devlin, Colin G. Miles, N. Simon Thomas, Simon A. Rock, Woolf T. Walker, Olinger, Eric, Cordell, Heather J, Gabrielle Wheway, Miguel Barroso‐Gil, Genomics England Research Consortium, Sayer, John A, Laura Powell, Jackson, Claire L, James Thompson, Elisa Molinari, Lucas, Jane S, Jane S. Lucas, Coles, Janice, Claire L. Jackson, Janice Coles, John A. Sayer, Heather J. Cordell, Thompson, James, Thomas, N Simon, Walker, Woolf T, Molinari, Elisa, Eric Olinger, Wilson, Ian J, Wheway, Gabrielle, Ian J. Wilson   +38 more
core   +2 more sources

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

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

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

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

Nasopharyngeal swab expression of cholestasis and ciliopathy genes.

, 2023
Nasopharyngeal swab expression of cholestasis and ciliopathy genes.
Alena Vrbacká (10571706), Elżbieta Ciara (3585623), Lucie Pfeiferová (10044023), Jan Šperl (16624983), Petra Lišková (15599486), Milan Jirsa (114558), Janka Globinovská (16624965), Marta Kalousová (13864071), Viktor Stránecký (16624971), Soňa Fraňková (16624962), Magdaléna Neřoldová (16624956), Markéta Šafaříková (13864068), Ondřej Fabián (16624974), Lenka Mrázová (495970), Milan Macek (264249), A. S. Knisely (14771089), Radana Kotalová (831784), Stanislav Kmoch (5095307), Hana Zůnová (16624968), Janka Slatinská (16624959), Eva Sticová (16624977), Daniela Skanderová (16624980), Joanna Pawlowska (6262025), Tomáš Zima (13864083)   +23 more
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Table1_Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome.pdf

, 2022
Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Ruxandra Bachmann-Gagescu (816014), Tamara D. S. Rusterholz (12978878), Claudia Hofmann (370235)   +2 more
core   +1 more source

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

IFT46 gene promoter-driven ciliopathy disease model in zebrafish [PDF]

, 2023
Ciliopathies are human genetic disorders caused by abnormal formation and dysfunction of cellular cilia. Cilia are microtubule-based organelles that project into the extracellular space and transduce molecular and chemical signals from the extracellular ...
Mi-Sun Lee, Kang-Han Lee, Cheol-Hee Kim, Tae-Ik Choi, Amartuvshin Baasankhuu, Hyun-Taek Kim, Hye-Jeong Han   +6 more
core   +1 more source