Literature DB >> 16868562

Tuberous sclerosis.

John R W Yates1.   

Abstract

Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes causing the condition and study of their protein products has shed light on the pathogenesis of the disease and provided valuable new information about signalling pathways regulating protein synthesis and cell growth. There is now the exciting possibility of drug therapy for some of the manifestations of the disease.

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Year:  2006        PMID: 16868562     DOI: 10.1038/sj.ejhg.5201625

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  31 in total

Review 1.  Tuberous sclerosis complex renal disease.

Authors:  Bradley P Dixon; John C Hulbert; John J Bissler
Journal:  Nephron Exp Nephrol       Date:  2010-11-11

Review 2.  Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review.

Authors:  Anna Carolina Paiva Costa T Figueiredo; Nikolas Mata-Machado; Matthew McCoyd; José Biller
Journal:  Curr Neurol Neurosci Rep       Date:  2016-02       Impact factor: 5.081

Review 3.  Modeling autistic features in animals.

Authors:  Paul H Patterson
Journal:  Pediatr Res       Date:  2011-05       Impact factor: 3.756

Review 4.  Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function.

Authors:  Gary J Bassell; Stephen T Warren
Journal:  Neuron       Date:  2008-10-23       Impact factor: 17.173

Review 5.  Treatment of renal angiomyolipoma in tuberous sclerosis complex (TSC) patients.

Authors:  S Brakemeier; F Bachmann; K Budde
Journal:  Pediatr Nephrol       Date:  2016-09-01       Impact factor: 3.714

Review 6.  Tuberous sclerosis complex: neurological, renal and pulmonary manifestations.

Authors:  D N Franz; J J Bissler; F X McCormack
Journal:  Neuropediatrics       Date:  2011-01-05       Impact factor: 1.947

7.  Tuberous sclerosis complex-associated renal angiomyolipomas: A single center study of 17 consecutive cases.

Authors:  Hang Wang; Qilai Long; Yiwei Wang; Li Liu; Lin Zhou; Jianming Guo
Journal:  Oncol Lett       Date:  2016-06-23       Impact factor: 2.967

8.  The mood stabiliser lithium suppresses PIP3 signalling in Dictyostelium and human cells.

Authors:  Jason S King; Regina Teo; Jonathan Ryves; Jonathan V Reddy; Owen Peters; Ben Orabi; Oliver Hoeller; Robin S B Williams; Adrian J Harwood
Journal:  Dis Model Mech       Date:  2009-04-21       Impact factor: 5.758

9.  Rapamycin and dexamethasone during pregnancy prevent tuberous sclerosis complex-associated cystic kidney disease.

Authors:  Morris Nechama; Yaniv Makayes; Elad Resnick; Karen Meir; Oded Volovelsky
Journal:  JCI Insight       Date:  2020-07-09

Review 10.  Hereditary neuroendocrine tumors of the gastroenteropancreatic system.

Authors:  Martin Anlauf; Nele Garbrecht; Juliane Bauersfeld; Anja Schmitt; Tobias Henopp; Paul Komminoth; Philipp U Heitz; Aurel Perren; Günter Klöppel
Journal:  Virchows Arch       Date:  2007-08-08       Impact factor: 4.064

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