Ciliopathies in pediatric endocrinology

Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects. Identification of new genes and mutations is the major challenge in development of a tailored and appropria...

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Autores principales: Cicolini, Ilenia, Blasetti, Annalisa, Chiarelli, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2023
Materias:
Reivew Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073028/
https://www.ncbi.nlm.nih.gov/pubmed/37015775
http://dx.doi.org/10.6065/apem.2244288.144
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author Cicolini, Ilenia
Blasetti, Annalisa
Chiarelli, Francesco
author_facet Cicolini, Ilenia
Blasetti, Annalisa
Chiarelli, Francesco
author_sort Cicolini, Ilenia
collection PubMed
description Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects. Identification of new genes and mutations is the major challenge in development of a tailored and appropriate therapy. It is expected that new mutations will be identified to characterize ciliopathies and promote new therapies.
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spelling pubmed-100730282023-04-06 Ciliopathies in pediatric endocrinology Cicolini, Ilenia Blasetti, Annalisa Chiarelli, Francesco Ann Pediatr Endocrinol Metab Reivew Article Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects. Identification of new genes and mutations is the major challenge in development of a tailored and appropriate therapy. It is expected that new mutations will be identified to characterize ciliopathies and promote new therapies. Korean Society of Pediatric Endocrinology 2023-03 2023-03-31 /pmc/articles/PMC10073028/ /pubmed/37015775 http://dx.doi.org/10.6065/apem.2244288.144 Text en © 2023 Annals of Pediatric Endocrinology & Metabolism https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Reivew Article
Cicolini, Ilenia
Blasetti, Annalisa
Chiarelli, Francesco
Ciliopathies in pediatric endocrinology
title Ciliopathies in pediatric endocrinology
title_full Ciliopathies in pediatric endocrinology
title_fullStr Ciliopathies in pediatric endocrinology
title_full_unstemmed Ciliopathies in pediatric endocrinology
title_short Ciliopathies in pediatric endocrinology
title_sort ciliopathies in pediatric endocrinology
topic Reivew Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073028/
https://www.ncbi.nlm.nih.gov/pubmed/37015775
http://dx.doi.org/10.6065/apem.2244288.144
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