منابع مشابه
Common skeletal features in rare diseases
Congenital skeletal anomalies are rare disorders, with a subset affecting both the cranial and appendicular skeleton. Two categories, craniosynostosis syndromes and chondrodysplasias, frequently result from aberrant regulation of the fibroblast growth factor (FGF) signaling pathway. Our recent work has implicated FGF signaling in a third category: ciliopathic skeletal dysplasias. In this work, ...
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Affiliations: U.O. di Pneumologia e Terapia Semi-Intensiva Respiratoria, Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare, Ospedale San Giuseppe, MultiMedica IRCCS, Milan, Italy. Faculté de Médecine, Université Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France. Service de Pneumologie, Centre de Référence de l’Hypertension Pulmonaire, Hôpital Bicêtre (Assistance Publ...
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Introduction: Genetic skeletal diseases (GSDs) are a diverse and complex group of rare genetic conditions that affect the development and homeostasis of the skeleton. Although individually rare, as a group of related diseases, GSDs have an overall prevalence of at least 1 per 4,000 children. There are currently very few specific therapeutic interventions to prevent, halt or modify skeletal dise...
متن کاملHybrid skeletal muscle fibres: a rare or common phenomenon?
1. The main aim of the present review is to raise awareness of the molecular complexity of single skeletal muscle fibres from "normal" and "transforming" muscles, in recognition of the many types of hybrids that have been observed in vertebrate skeletal muscle. The data used to illustrate various points made in the review were taken from studies on mammalian (mostly rat) and amphibian muscles. ...
متن کاملMechanistic and therapeutic insights gained from studying rare skeletal diseases.
Rare bone diseases account for 5% of all birth defects and can cause significant morbidity throughout patients' lives. Significant progress is being made to elucidate the pathophysiological mechanisms underlying these diseases. This paper summarizes presentation highlights of a workshop on Rare Skeletal Diseases convened to explore how the study of rare diseases has influenced the field's under...
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ژورنال
عنوان ژورنال: Rare Diseases
سال: 2013
ISSN: 2167-5511
DOI: 10.4161/rdis.27109