نتایج جستجو برای: ciliopathy

تعداد نتایج: 423  

2017
Santiago Garcia-Tizon Larroca Vangeliya Blagoeva Atanasova Maria Orera Clemente Anna Aluja Mendez Virginia Ortega Abad Ricardo Perez Fernandez-Pacheco Juan De León Luis Francisco Gamez Alderete

Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.

2016
Susanne Roosing Marta Romani Mala Isrie Rasim Ozgur Rosti Alessia Micalizzi Damir Musaev Tommaso Mazza Lihadh Al-Gazali Umut Altunoglu Eugen Boltshauser Stefano D'Arrigo Bart De Keersmaecker Hülya Kayserili Sarah Brandenberger Ichraf Kraoua Paul R Mark Trudy McKanna Joachim Van Keirsbilck Philippe Moerman Andrea Poretti Ratna Puri Hilde Van Esch Joseph G Gleeson Enza Maria Valente

BACKGROUND Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectr...

2008
Jonathan Leslie Tobin

This thesis aims to investigate new functions for ciliopathy proteins and identify candidates for therapeutic application. The ciliopathies form a class of genetic diseases whose aetiology lies in the primary cilium. Over 30 genes have been identified as mutant in ciliopathies and their proteins localise at the primary cilium. When mutated they can cause kidney disease, obesity, polydactyly, an...

Journal: :International Journal of Molecular Sciences 2021

Journal: :Indian pediatrics 2015
Radheshyam Purkait Rajarshi Basu Rituparna Das Uttara Chatterjee

BACKGROUND Association between Joubert Syndrome and Hirschsprung disease is rare. CASE CHARACTERISTICS A 9-month-old girl having developmental delay and chronic constipation. OBSERVATION Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen. OUTCOME Child underwent surgical repair for Hirschsprung disease. MESSAGE Association of these two rare entities co...

Journal: :Current Opinion in Genetics & Development 2019

Journal: :Journal of pediatric genetics 2014
Katarzyna Szymanska Verity L Hartill Colin A Johnson

Joubert (JBTS) and Meckel-Gruber (MKS) syndromes are recessive neurodevelopmental conditions caused by mutations in proteins that are structural or functional components of the primary cilium. In this review we provide an overview of their clinical diagnosis, management and molecular genetics. Both have variable phenotypes, extreme genetic heterogeneity, and display allelism both with each othe...

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