Results 61 to 70 of about 9,240 (177)

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

Prostaglandin signaling in ciliogenesis during development [PDF]

Cell Cycle, 2014
Prostaglandins regulate a wide variety of physiological and pathological processes, including inflammation, reproduction, cardiovascular homeostasis, and cancer progression. Cyclooxygenase (COX) catalyzes the rate-limiting step in the production of prostaglandins from arachidonic acid (Fig. 1). In 2 reaction steps, arachidonic acid is firstly converted
Daqing, Jin, Peiyun, Liu, Tao P, Zhong
openaire   +2 more sources

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Nature Communications
WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake   +57 more
doaj   +1 more source

Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina

Cell Reports, 2016
Summary: Microtubule actin crosslinking factor 1 (MACF1) plays a role in the coordination of microtubules and actin in multiple cellular processes. Here, we show that MACF1 is also critical for ciliogenesis in multiple cell types.
Helen L. May-Simera, Jessica D. Gumerson, Chun Gao, Maria Campos, Stephanie M. Cologna, Tina Beyer, Karsten Boldt, Koray D. Kaya, Nisha Patel, Friedrich Kretschmer, Matthew W. Kelley, Ronald S. Petralia, Megan G. Davey, Tiansen Li   +13 more
doaj   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, Volume 255, Issue 8, Page 808-823, August 2026.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Systematic Reanalysis of Whole‐Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia

Pediatric Pulmonology, Volume 61, Issue 8, August 2026.
ABSTRACT Background Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder, and despite advances in next‐generation sequencing, a substantial proportion of clinically suspected pediatric cases remain without a molecular diagnosis.
Tilbe Hakçıl Öz, Tuğba Şişmanlar Eyüboğlu, Ayşe Tana Aslan, Nilgün Kula, Gülsüm Kayhan   +4 more
wiley   +1 more source

Induction of Ran GTP drives ciliogenesis

Molecular Biology of the Cell, 2011
The small GTPase Ran and the importin proteins regulate nucleocytoplasmic transport. New evidence suggests that Ran GTP and the importins are also involved in conveying proteins into cilia. In this study, we find that Ran GTP accumulation at the basal bodies is coordinated with the initiation of ciliogenesis.
Fan, Shuling, Whiteman, Eileen L, Hurd, Toby W, McIntyre, Jeremy C, Dishinger, John F, Liu, Chia Jen, Martens, Jeffrey R, Verhey, Kristen J, Sajjan, Uma, Margolis, Ben   +9 more
openaire   +3 more sources

Chlamydomonas as a model system to study cilia and flagella using genetics, biochemistry, and microscopy

Frontiers in Cell and Developmental Biology
The unicellular green alga, Chlamydomonas reinhardtii, has played a central role in discovering much of what is currently known about the composition, assembly, and function of cilia and flagella.
Wallace F. Marshall
doaj   +1 more source

EGF receptor kinase suppresses ciliogenesis through activation of USP8 deubiquitinase

Nature Communications, 2018
The trichoplein-Aurora A pathway inhibits ciliogenesis in proliferating cells. Here the authors EGFR-mediated phosphorylation of the deubiquitinating enzyme USP8 leads to its activation, and this suppresses trichoplein degradation, allowing inhibition of
Kousuke Kasahara, Hiromasa Aoki, Tohru Kiyono, Shujie Wang, Harumi Kagiwada, Mizuki Yuge, Toshio Tanaka, Yuhei Nishimura, Akira Mizoguchi, Naoki Goshima, Masaki Inagaki   +10 more
doaj   +1 more source

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State‐Wide Diagnostic Service

Alcohol, Clinical and Experimental Research, Volume 50, Issue 8, August 2026.
Of 175 Australian children with fetal alcohol spectrum disorder (FASD), 90% had genetic testing, and of those, 24% had a rare copy number variant (CNV). Genetic testing supports the FASD diagnostic process and may reveal additional diagnoses or sources of genetic vulnerability to FASD.
Suzy Byrnes, Felicity Collins, Elizabeth Elliott   +2 more
wiley   +1 more source