Results 81 to 90 of about 8,699 (199)

A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report

Clinical Case Reports, 2022
We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified.
Xiangzhong Zhao, Aihua Sui, Li Cui, Zhiying Liu, Ruixiao Zhang, Yue Han, Leping Shao   +6 more
doaj   +1 more source

Plecstatin inhibits hepatocellular carcinoma tumorigenesis and invasion through cytolinker plectin

Molecular Oncology, Volume 20, Issue 6, Page 1453-1472, June 2026.
The ruthenium‐based metallodrug plecstatin exerts its anticancer effect in hepatocellular carcinoma (HCC) primarily through selective targeting of plectin. By disrupting plectin‐mediated cytoskeletal organization, plecstatin inhibits anchorage‐dependent growth, cell polarization, and tumor cell dissemination.
Zuzana Outla, Jan Kosla, Magdalena Prechova, Lukas Frick, Patricia Bortel, Yasmin Borutzki, Andrea Bileck, Christopher Gerner, Samuel M. Meier‐Menches, Selma Osmanagic‐Myers, Martin Gregor   +10 more
wiley   +1 more source

Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies

Molecular Medicine
Primary cilia are sensory organelles that extend from the cellular membrane and are found in a wide range of cell types. Cilia possess a plethora of vital components that enable the detection and transmission of several signaling pathways, including Wnt ...
Xiaonan Liu, Anna Pacwa, Giorgia Bresciani, Marta Swierczynska, Mariola Dorecka, Adrian Smedowski   +5 more
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 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

Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes

Nature Communications
Tubulinopathies and neurodevelopmental ciliopathies are two groups of genetic disorders that cause structural brain malformations. Tubulinopathies result from mutations in tubulins, the building blocks of microtubules, most of which are dominant ...
Antonio Mollica, Safia Omer, Georgiana Forguson, Sydney Steiman, Sonia L. Evagelou, Serhiy Naumenko, Susan Walker, Lu Yi Li, Aideen Teeling, Kyle Lindsay, Steven Erwood, Shagana Visuvanathan, Anjali Vig, Robert M. Vernon, Benjamin Akman, Constance Smith-Hicks, Julie D. Forman-Kay, Manohar Shroff, Vivek Pai, Rene E. Harrison, Ronald D. Cohn, Evgueni A. Ivakine   +21 more
doaj   +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

Multi‐Layered Genomic and Clinical Analysis Identifies Novel Variants, Co‐Occurring Single Nucleotide Polymorphism Pairs, and Clinical Determinants of Host‐Pathogen Interaction in COVID‐19 Severity

Journal of Medical Virology, Volume 98, Issue 6, June 2026.
ABSTRACT Host genetic factors may contribute to COVID‐19 severity. To identify genetic variants influencing COVID‐19 severity progression, whole‐exome sequencing was performed, followed by an exome‐wide association study on 191 hospitalized patients categorized into three severity groups.
Doris Repušić, Marina Korolija, Ana Livun, Tomo Svaguša, Robert Belužić, Vjekoslav Tomaić, Rosa Karlić, Kristian Vlahoviček   +7 more
wiley   +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

Liver and kidney disease in ciliopathies [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2009
AbstractHepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human disorders. The discovery that proteins defective in the autosomal dominant and recessive polycystic kidney diseases (ADPKD and ARPKD) localize to the primary cilia and the recognition of the role these organelles play in the pathogenesis of HRFCDs led to the ...
openaire   +2 more sources