Results 81 to 90 of about 9,546 (191)

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, Volume 10, Issue 4, Page 333-344, August 2026.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +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

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

Fetal ciliopathies: a retrospective observational single-center study

, 2021
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ...
Floeck, Anne, Gembruch, Ulrich, Geipel, Annegret, Mueller, Andreas, Strizek, Brigitte, Simonini, Corinna   +5 more
core   +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

Modeling Human Disease in Humans: The Ciliopathies [PDF]

, 2011
Soon, the genetic basis of most human Mendelian diseases will be solved. The next challenge will be to leverage this information to uncover basic mechanisms of disease and develop new therapies.
Novarino, Gaia, Joseph G. Gleeson, Gleeson, Joseph G., Akizu, Naiara, Naiara Akizu, Gaia Novarino   +5 more
core   +1 more source

When Cilia Go Bad: The Complex Genetics of Ciliopathies

, 2021
Disruption of ciliary and basal body function has been associated with a growing number of human genetic disorders, collectively termed ciliopathies. Cilia can roughly be divided into motile or non-motile cilia.
Anna Lindstrand, Lindstrand, A,
core   +1 more source

Ciliopathies [PDF]

New England Journal of Medicine, 2011
Friedhelm, Hildebrandt, Thomas, Benzing, Nicholas, Katsanis   +2 more
openaire   +2 more sources

Looking beyond cilia in renal ciliopathies [PDF]

, 2015
In this work, I have investigated the group of inherited diseases called “ciliopathies”, involving defects in proteins localizing to the cilium or associated complexes and pathways.
Slaats, G.G.G.
core  

Molecular genetics and functional characterization of ciliopathies

Primary cilia are microtubule-based organelles projecting from most epithelial cells in vertebrates, with numerous essential roles in chemo- and mechanosensation. A suite of inherited human conditions are caused by defects in the structure or function of
Wheway, Gabrielle
core   +5 more sources