Results 91 to 100 of about 12,764 (170)

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies

open access: yesHGG Advances
Summary: The primary cilium is a small organelle that plays key roles in cellular signaling. Defects in primary cilia formation, morphology, and function cause a heterogeneous group of developmental syndromes termed ciliopathies. The inturned planar cell
Rebekah Rushforth   +7 more
doaj   +1 more source

Astrocyte‐enriched and cilia‐related genetic signatures in dementia: A whole‐exome sequencing study

open access: yesGeneral Psychiatry, Volume 39, Issue 5, October 2026.
ABSTRACT Background Alzheimer's disease (AD), the most prevalent form of dementia, is highly heritable, yet much of its genetic basis remains unexplained. Most genetic studies have focused on European populations, with limited data from under‐represented groups.
Miaohan Deng   +9 more
wiley   +1 more source

Functional inhibition of fatty acid binding protein 4 ameliorates impaired ciliogenesis in GCs

open access: yes, 2021
Ciliogenesis is often impaired in some cancer cells, leading to acceleration of cancer phenotypes such as cell migration and proliferation. From the investigation of primary cilia of 16 gastric cancer cells (GCs), we found that GCs could be grouped into ...
정재호   +5 more
core   +1 more source

M-Phase Phosphoprotein 9 regulates ciliogenesis by modulating CP110-CEP97 complex localization at the mother centriole

open access: yesNature Communications, 2018
Ciliogenesis is negatively regulated by the CP110-CEP97 complex, although the mechanism controlling mother centriole localization is poorly understood. Here, Huang et al.
Ning Huang   +6 more
doaj   +1 more source

Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function

open access: yeseLife, 2018
The dynein-2 microtubule motor is the retrograde motor for intraflagellar transport. Mutations in dynein-2 components cause skeletal ciliopathies, notably Jeune syndrome. Dynein-2 contains a heterodimer of two non-identical intermediate chains, WDR34 and
Laura Vuolo   +3 more
doaj   +1 more source

Making the Diagnosis of Primary Ciliary Dyskinesia in Australia

open access: yesPediatric Pulmonology, Volume 61, Issue 10, October 2026.
ABSTRACT Background and Objective Primary Ciliary Dyskinesia (PCD) is a genetic disorder associated with recurrent infections and irreversible airway damage. No single diagnostic test exists, necessitating use of a diagnostic algorithm that varies internationally.
Michelle Cai   +7 more
wiley   +1 more source

Maternal protein restriction programs the ageing kidney: Proteomic signatures of early‐life origin renal and metabolic dysfunction

open access: yesThe Journal of Physiology, Volume 604, Issue 20, Page 8636-8661, 15 October 2026.
Abstract figure legend Maternal protein restriction (MPR) induced persistent renal histopathological alterations accompanied by elevated serum creatinine levels. Nephron‐segment proteomic analysis revealed region‐specific molecular dysregulation affecting Bowman's capsule (PARK7, oxidative stress sensor; MSN, cytoskeletal organization), the proximal ...
Marina Pereira Pires   +15 more
wiley   +1 more source

Ciliogenesis is intrinsically altered in COPD small airways

open access: yes, 2022
An alteration of primary and motile ciliogenesis is detected in mild/moderate COPD small airways and could be at the origin of the initiation of epithelial remodelling http://bit.ly ...
Perotin, Jeanne-Marie   +10 more
core   +1 more source

Determinants of cytoplasmic microtubule depolymerization during ciliogenesis in Chlamydomonas

open access: yesLife Science Alliance
Chemically induced deciliation previously shown to induce cytoplasmic microtubule depolymerization occurs independently of ciliary loss. Furthermore, immediate ciliogenesis can occur in the presence of polymerized cytoplasmic microtubules. At the core of
Larissa L Dougherty, Prachee Avasthi
doaj   +1 more source

Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis

open access: yesThe Journal of Clinical Investigation
Ciliary dysfunction results in multiorgan developmental diseases, collectively known as ciliopathies. The B9D1-B9D2-MKS1protein complex maintains the gatekeeper function at the ciliary transition zone (TZ).
Ruida He   +24 more
doaj   +1 more source

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