نتایج جستجو برای: ciliopathy

تعداد نتایج: 423  

2011
Maha S Zaki Shifteh Sattar Rustin A Massoudi Joseph G Gleeson

Disorders within the "ciliopathy" spectrum include Joubert (JS), Bardet-Biedl syndromes (BBS), and nephronophthisis (NPHP). Although mutations in single ciliopathy genes can lead to these different syndromes between families, there have been no reports of phenotypic discordance within a single family. We report on two consanguineous families with discordant ciliopathies in sibling. In Ciliopath...

Journal: :Nihon Shoni Jinzobyo Gakkai Zasshi 2012

Journal: :Clinical genetics 2016
R Jaron N Rosenfeld F Zahdeh S Carmi L Beni-Adani V Doviner E Picard R Segel S Zeligson L Carmel P Renbaum E Levy-Lahad

Recessive CRB2 mutations were recently reported to cause both steroid resistant nephrotic syndrome and prenatal onset ventriculomegaly with kidney disease. We report two Ashkenazi Jewish siblings clinically diagnosed with ciliopathy. Both presented with severe congenital hydrocephalus and mild urinary tract anomalies. One affected sibling also has lung hypoplasia and heart defects. Exome sequen...

Journal: :Human molecular genetics 2011
Karlien L M Coene Dorus A Mans Karsten Boldt C Johannes Gloeckner Jeroen van Reeuwijk Emine Bolat Susanne Roosing Stef J F Letteboer Theo A Peters Frans P M Cremers Marius Ueffing Ronald Roepman

Recent studies have established ciliary dysfunction as the underlying cause of a broad range of multi-organ phenotypes, known as 'ciliopathies'. Ciliopathy-associated proteins have a common site of action in the cilium, however, their overall importance for ciliary function differs, as implied by the extreme variability in ciliopathy phenotypes. The aim of this study was to gain more insight in...

2015
Jiami Guo Holden Higginbotham Jingjun Li Jackie Nichols Josua Hirt Vladimir Ghukasyan E.S. Anton

Primary cilia are essential conveyors of signals underlying major cell functions. Cerebral cortical progenitors and neurons have a primary cilium. The significance of cilia function for brain development and function is evident in the plethora of developmental brain disorders associated with human ciliopathies. Nevertheless, the role of primary cilia function in corticogenesis remains largely u...

2012
Alexia Mahuzier Helori-Mael Gaudé Valentina Grampa Isabelle Anselme Flora Silbermann Margot Leroux-Berger Delphine Delacour Jerome Ezan Mireille Montcouquiol Sophie Saunier Sylvie Schneider-Maunoury Christine Vesque

Cilia are at the core of planar polarity cellular events in many systems. However, the molecular mechanisms by which they influence the polarization process are unclear. Here, we identify the function of the ciliopathy protein Rpgrip1l in planar polarity. In the mouse cochlea and in the zebrafish floor plate, Rpgrip1l was required for positioning the basal body along the planar polarity axis. R...

Journal: :Mechanisms of Development 2017

2014
Heon Yung Gee Edgar A. Otto Toby W. Hurd Shazia Ashraf Moumita Chaki Andrew Cluckey Virginia Vega-Warner Pawaree Saisawat Katrina A. Diaz Humphrey Fang Stefan Kohl Susan J. Allen Rannar Airik Weibin Zhou Gokul Ramaswami Sabine Janssen Clementine Fu Jamie L. Innis Stefanie Weber Udo Vester Erica E. Davis Nicholas Katsanis Hanan M. Fathy Nikola Jeck Gunther Klaus Ahmet Nayir Khawla A. Rahim Ibrahim Al Attrach Ibrahim Al Hassoun Savas Ozturk Dorota Drozdz Udo Helmchen John F. O’Toole Massimo Attanasio Gudrun Nürnberg Peter Nürnberg Joseph Washburn James MacDonald Jeffrey W. James Shawn Levy Friedhelm Hildebrandt

Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers direct opportunities for improved clinical management and potentially treatment. Rare diseases comprise the majority of chronic kidney disease (...

2014
Marta Romani Alessia Micalizzi Ichraf Kraoua Maria Teresa Dotti Mara Cavallin László Sztriha Rosario Ruta Francesca Mancini Tommaso Mazza Stefano Castellana Benrhouma Hanene Maria Alessandra Carluccio Francesca Darra Adrienn Máté Alíz Zimmermann Neziha Gouider-Khouja Enza Maria Valente

Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patie...

Journal: :Genetics and molecular research : GMR 2015
M M Nabhan H Abdelaziz Y Xu R El Sayed M Santibanez-Koref N A Soliman J A Sayer

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy leading to progressive kidney and liver disease. Biallelic mutations in the PKHD1 gene underlie this condition. We describe a child with bilaterally enlarged cystic kidneys, portal hypertension, and cerebral ventriculomegaly. Molecular genetic investigations using whole-exome sequencing and confirmation using Sange...

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