Results 141 to 150 of about 11,920 (200)

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, Volume 109, Issue 2, Page 305-315, February 2026.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

HOXB4 Promotes Bladder Cancer Progression in Part Through Transcriptional Activation of Smoothened

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
HOXB4 is overexpressed in bladder cancer and associated with poor prognosis. By transcriptionally activating Smoothened (SMO), HOXB4 amplifies SMO–GLI signaling to promote tumor growth and metastatic behavior. This graphical abstract highlights the HOXB4–SMO axis as a key driver of bladder cancer progression and a potential target for future ...
Zhaoheng Jin, Wenjie Yang, Yueqiang Peng, Lin Ma, Ziyi Li, Jie Dong, Zhigang Ji   +6 more
wiley   +1 more source

Decision letter: Ciliary chemosensitivity is enhanced by cilium geometry and motility

, 2021
openaire   +1 more source

A High-Resolution Subcellular Map of Proteins in Cells with Motile Cilia. [PDF]

J Proteome Res
Bertilsson F, Hikmet F, Hansen JN, Uhlén M, Méar L, Lindskog C.   +5 more
europepmc   +1 more source

A protein complex in the extreme distal tip of vertebrate motile cilia controls their organization, length, and function. [PDF]

Nat Commun
Hong J, Lee C, Madhu G, Papoulas O, Atayeter E, Hoogerbrugge G, Pan J, Takagishi M, Manzi NI, Dickinson DJ, Horani A, Brody SL, Marcotte EM, Prakash VN, Park TJ, Wallingford JB.   +15 more
europepmc   +1 more source

Primary cilia function as hubs for signal transduction. [PDF]

Cell Biosci
Li B, He YY, Yang ZM.
europepmc   +1 more source

Tppp3 determines basal body positioning and identity of respiratory cilia via microtubule assembly and sphingolipid homeostasis. [PDF]

Proc Natl Acad Sci U S A
Sakai T, Kawakita M, Seki A, Takaoka K, Kurata M, Torikai J, Atsumi S, Yawata K, Noi K, Fukutani Y, Noguchi K, Kiyokawa H, Morimoto M, Takeuchi E, Minegishi K, Aoki Y, Fujimura S, Nishizaka T, Inoue T, Nagaoka K, Tsugawa H, Hayashi H, Ishiguro H, Kozono T, Ohsawa I, Fujita Y, Matsunami H, Hamada H, Shinohara K.   +28 more
europepmc   +1 more source

Cilium-by-cilium: unveiling hidden proteomic diversity and the molecular basis of ciliopathies. [PDF]

Signal Transduct Target Ther
Chiong M, Li H, Lavandero S.
europepmc   +1 more source

LRRC56 deficiency cause motile ciliopathies in humans and mice. [PDF]

Front Genet
Xie XH, Gu H, Yang JL, Yuan ZZ, Qin KL, Tan ZP.   +5 more
europepmc   +1 more source

Three-dimensional beating pattern of the ciliary tip in the live ciliate Tetrahymena. [PDF]

J Cell Sci
Marumo A, Ishii H, Yamaguchi S, Sumiyoshi R, Matsuda K, Yamagishi M, Yajima J.   +6 more
europepmc   +1 more source