Literature DB >> 17321910

Tuberous sclerosis complex: a review.

Alexander K C Leung1, W Lane M Robson.   

Abstract

Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterized by the potential for hamartoma formation in almost every organ. The inheritance is autosomal dominant with almost complete penetrance but variable expressivity. The two gene loci that code for TSC are TSC1, located on chromosome 9q34, and TSC2 on 16p13.3. TSC complex may affect the skin, central nervous system, kidneys, heart, eyes, blood vessels, lungs, bone, and gastrointestinal tract. The diagnosis of TSC is based on the identification of hamartomas in more than one organ system. Treatment should be symptomatic and organ specific. A multidisciplinary management approach is necessary.

Entities:  

Mesh:

Year:  2007        PMID: 17321910     DOI: 10.1016/j.pedhc.2006.05.004

Source DB:  PubMed          Journal:  J Pediatr Health Care        ISSN: 0891-5245            Impact factor:   1.812


  37 in total

Review 1.  Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies.

Authors:  Robert T Jensen; Marc J Berna; David B Bingham; Jeffrey A Norton
Journal:  Cancer       Date:  2008-10-01       Impact factor: 6.860

2.  Tuberous sclerosis: Inside and outside.

Authors:  Manoj Gopinath; Deepak Vashisht; G S Madan
Journal:  Med J Armed Forces India       Date:  2016-12-16

Review 3.  Imaging for Screening and Surveillance of Patients with Hereditary Forms of Renal Cell Carcinoma.

Authors:  Yuval Freifeld; Lakshmi Ananthakrishnan; Vitaly Margulis
Journal:  Curr Urol Rep       Date:  2018-08-16       Impact factor: 3.092

Review 4.  Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement.

Authors:  Felipe Mussi von Ranke; Gláucia Zanetti; Jorge Luiz Pereira e Silva; Cesar Augusto Araujo Neto; Myrna C B Godoy; Carolina A Souza; Alexandre Dias Mançano; Arthur Soares Souza; Dante Luiz Escuissato; Bruno Hochhegger; Edson Marchiori
Journal:  Lung       Date:  2015-06-24       Impact factor: 2.584

5.  Comparative study of cellular and synaptic abnormalities in brain tissue samples from pediatric tuberous sclerosis complex and cortical dysplasia type II.

Authors:  Carlos Cepeda; Véronique M André; Irene Yamazaki; Jason S Hauptman; Jane Y Chen; Harry V Vinters; Gary W Mathern; Michael S Levine
Journal:  Epilepsia       Date:  2010-07       Impact factor: 5.864

6.  Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?

Authors:  Wladimir Bocca Vieira de Rezende Pinto; José Luiz Pedroso; Paulo Victor Sgobbi de Souza; Acary Souza Bulle Oliveira; Orlando Graziani Povoas Barsottini
Journal:  J Neurol       Date:  2013-09-29       Impact factor: 4.849

Review 7.  Phosphatase and tensin homologue deleted on chromosome 10: extending its PTENtacles.

Authors:  Bangyan L Stiles
Journal:  Int J Biochem Cell Biol       Date:  2008-10-02       Impact factor: 5.085

8.  Renal angiomyolipomas in tuberous sclerosis--rare but potentially life-threatening lesions.

Authors:  Adnan Azim; Govindaraj Rajkumar
Journal:  BMJ Case Rep       Date:  2012-12-14

9.  Convergent synaptic and circuit substrates underlying autism genetic risks.

Authors:  Aaron McGee; Guohui Li; Zhongming Lu; Shenfeng Qiu
Journal:  Front Biol (Beijing)       Date:  2014-02-01

10.  mTORC1 hyperactivity inhibits serum deprivation-induced apoptosis via increased hexokinase II and GLUT1 expression, sustained Mcl-1 expression, and glycogen synthase kinase 3beta inhibition.

Authors:  Prashanth T Bhaskar; Veronique Nogueira; Krushna C Patra; Sang-Min Jeon; Youngkyu Park; R Brooks Robey; Nissim Hay
Journal:  Mol Cell Biol       Date:  2009-07-20       Impact factor: 4.272

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.