Results 131 to 140 of about 16,795 (294)

ATR promotes cilia signalling: links to developmental impacts [PDF]

, 2016
Mutations in ATR (ataxia telangiectasia and RAD3-related) cause Seckel syndrome (ATR-SS), a microcephalic primordial dwarfism disorder. Hitherto, the clinical manifestation of ATR deficiency has been attributed to its canonical role in DNA damage ...
Caparros-Martin, Chen, Mark O'Driscoll, Melanie Philipp, Penny A. Jeggo, Teresa Casar Tena, Tom Stiff   +6 more
core   +1 more source

New functions of B9D2 in tight junctions and epithelial polarity

Scientific Reports
Ciliopathies are a diverse group of disorders resulting from abnormalities in the development or function of multiple organs. While significant research has clarified the role of the primary cilium in transducing numerous signalling pathways, elucidating
Chloe Caenen-Braz, Latifa Bouzhir, Pascale Dupuis-Williams   +2 more
doaj   +1 more source

Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome [PDF]

, 2023
Dominyka Batkovskyte, Maya Komatsu, Anna Hammarsjö, Ritsuko K. Pooh, Osamu Shimokawa, Shiro Ikegawa, Giedré Grigelioniené, Gen Nishimura, Takahiro Yamada   +8 more
openalex   +1 more source

Atypical Retinitis Pigmentosa With Systemic Features in Bardet–Biedl Syndrome

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Recognition of systemic features such as polydactyly in a patient with retinitis pigmentosa is crucial for early diagnosis of Bardet–Biedl syndrome. Mild non‐pitting swelling of the hands—an incidental, non‐classical finding—was also noted, emphasizing the importance of thorough systemic examination in atypical presentations.
Muhammad Umar Ahsan, Saba Shaheen, Somaiya Ahmed   +2 more
wiley   +1 more source

Using Zebrafish to Study Multiciliated Cell Development and Disease States

Cells
Multiciliated cells (MCCs) serve many important functions, including fluid propulsion and chemo- and mechanosensing. Diseases ranging from rare conditions to the recent COVID-19 global health pandemic have been linked to MCC defects. In recent years, the
Thanh Khoa Nguyen, Sophia Baker, John-Michael Rodriguez, Liana Arceri, Rebecca A. Wingert   +4 more
doaj   +1 more source

The master cell cycle regulator APC-Cdc20 regulates ciliary length and disassembly of the primary cilium [PDF]

, 2014
The primary cilium has an important role in signaling; defects in structure are associated with a variety of human diseases. Much of the most basic biology of this organelle is poorly understood, even basic mechanisms, such as control of growth and ...
Kirschner, Marc W, Wang, Weiping, Wu, Tao   +2 more
core   +1 more source

Centriole Duplication at the Crossroads of Cell Cycle Control and Oncogenesis

Cells
Centriole duplication is a vital process for cellular organisation and function, underpinning essential activities such as cell division, microtubule organisation and ciliogenesis.
Claude Prigent
doaj   +1 more source

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling jeune syndrome

, 2015
Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis.
Ah-Cann, Casey J, Bateman, John F, Bertram, John F, Caruana, Georgina, Dobbie, Michael S, Farlie, Peter G, Freckmann, Mary-Louise, Miller, Kerry A, Pope, Kate, Savarirayan, Ravi, Tan, Tiong Y, Welfare, Megan F   +11 more
core   +1 more source

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development [PDF]

, 2020
Laura Powell, Miguel Barroso‐Gil, Gavin J. Clowry, Laura A. Devlin, Elisa Molinari, Simon A. Ramsbottom, Colin G. Miles, John A. Sayer   +7 more
openalex   +1 more source

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Kidney International, 2023
Friederike Petzold, K. Billot, Xiaoyi Chen, Charline Henry, E. Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, V. Moriniére, P. Krug, C. Jeanpierre, K. Tory, O. Boyer, A. Burgun, A. Servais, R. Salomon, A. Benmerah, L. Heidet, Nicolas Garcelon, C. Antignac, M. Zaidan, S. Saunier   +21 more
semanticscholar   +1 more source