Results 41 to 50 of about 13,378 (282)

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study. [PDF]

J Diabetes Investig
Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Hashiba T, Sugawara Y, Hirakawa Y, Sato D, Inagi R, Nangaku M.   +5 more
europepmc   +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

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

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

Multicellular modeling of ciliopathy by combining iPS cells and microfluidic airway-on-a-chip technology

Science Translational Medicine, 2021
Combined induced pluripotent stem cells and airway-on-a-chip establish the global axis of planar cell polarity in patient-derived airway cell sheet. Modeling cilia Understanding the mechanisms mediating mucociliary clearance in lungs is critical for ...
N. Sone, Satoshi Konishi, K. Igura, K. Tamai, S. Ikeo, Y. Korogi, S. Kanagaki, Toshinori Namba, Y. Yamamoto, Yifei Xu, K. Takeuchi, Yuichi Adachi, T. Chen-Yoshikawa, H. Date, M. Hagiwara, S. Tsukita, T. Hirai, Y. Torisawa, S. Gotoh   +18 more
semanticscholar   +1 more source

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

Clinical Genetics, 2022
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 ...
L. Devlin, J. Coles, C. Jackson, Miguel Barroso-Gil, Ben Green, W. Walker, N. S. Thomas, James Thompson, Simon A Rock, R. Neatu, L. Powell, E. Molinari, Ian Wilson, H. Cordell, E. Olinger, C. Miles, J. Sayer, G. Wheway, J. Lucas   +18 more
semanticscholar   +1 more source

Tissue-specific requirement of sodium channel and clathrin linker 1 (Sclt1) for ciliogenesis during limb development

Frontiers in Cell and Developmental Biology, 2022
Primary cilia have essential roles as signaling centers during development and adult homeostasis. Disruption of ciliary structure or function causes congenital human disorders called ciliopathies.
Hankyu Lee, Hankyu Lee, Kyeong-Hye Moon, Kyeong-Hye Moon, Jieun Song, Jieun Song, Suyeon Je, Suyeon Je, Jinwoong Bok, Jinwoong Bok, Jinwoong Bok, Hyuk Wan Ko, Hyuk Wan Ko   +12 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

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

Primary cilium in kidney development, function and disease

Frontiers in Endocrinology, 2022
The primary cilium is a hair-like, microtubule-based organelle that is covered by the cell membrane and extends from the surface of most vertebrate cells.
Yunfeng Bai, Cuiting Wei, Cuiting Wei, Ping Li, Xuefeng Sun, Guangyan Cai, Xiangmei Chen, Xiangmei Chen, Quan Hong   +8 more
doaj   +1 more source