Results 61 to 70 of about 9,217 (165)

Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy

Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Primary cilia–extracellular vesicle crosstalk in Alzheimer's disease: Emerging mechanisms and biomarker potential

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Vishal Singh Guleria, Charisse N. Winston   +1 more
wiley   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +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

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity.

, 2012
International audienceCilia are at the core of planar polarity cellular events in many systems. However, the molecular mechanisms by which they influence the polarization process are unclear.
Saunier, Sophie, Silbermann, Flora, Gaudé, Helori-Mael, Ezan, Jerome, Grampa, Valentina, Delacour, Delphine, Schneider-Maunoury, Sylvie, Mahuzier, Alexia, Vesque, Christine, Anselme, Isabelle, Montcouquiol, Mireille, Leroux-Berger, Margot   +11 more
core   +1 more source

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

Indian Journal of Ophthalmology, 2016
Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them.
Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya   +3 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

Syndromic ciliopathy: a taiwanese single-center study

Background Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology
Fu-Sung Lo, Meng-Che Tsai, Ju-Li Lin, Hui-Pin Hsiao, Chung-Hsing Wang, Yu-Wen Pan, Pao-Chin Chiu, Pao-Lin Kuo, Yen-Yin Chou, Peng-Chieh Chen, Tsung-Ying Ou   +10 more
core   +1 more source

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities. Accurate genetic testing is crucial for the diagnosis and treatment of different clinical subtypes. This study investigates gene variants
Shiyao Xian, Qi Zhao, Yanfang Li, Lihua Li, Zhongwei Li, Miaolian Zhang, Suihua Feng, Qiang Zhao   +7 more
wiley   +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