Literature DB >> 10577937

Complete inactivation of the TSC2 gene leads to formation of hamartomas.

K S Au, A A Hebert, E S Roach, H Northrup.   

Abstract

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Year:  1999        PMID： 10577937      PMCID： PMC1288393          DOI： 10.1086/302648

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  28 in total

1.  Epidemiology of tuberous sclerosis.

Authors:  J P Osborne; A Fryer; D Webb
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

2.  Genetic aspects of tuberous sclerosis in the west of Scotland.

Authors:  J R Sampson; S J Scahill; J B Stephenson; L Mann; J M Connor
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

3.  Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.

Authors:  S Verhoef; R van Diemen-Steenvoorde; W L Akkersdijk; N M Bax; Y Ariyurek; C J Hermans; O van Nieuwenhuizen; P G Nikkels; D Lindhout; D J Halley; K Lips; A M van den Ouweland
Journal:  Eur J Pediatr       Date:  1999-04       Impact factor: 3.183

4.  Dinucleotide repeat polymorphisms at the D16S525, D16S359, D16S531 and D16S522 loci.

Authors:  Y Shen; K Holman; N A Doggett; D F Callen; G R Sutherland; R I Richards
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

5.  Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

Authors:  B Peral; C J Ward; J L San Millán; S Thomas; R L Stallings; F Moreno; P C Harris
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

6.  Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).

Authors:  A Snarey; S Thomas; M C Schneider; S E Pound; N Barton; A F Wright; S Somlo; G G Germino; P C Harris; S T Reeders
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

7.  Tuberous sclerosis in Western Sweden. A population study of cases with early childhood onset.

Authors:  G Ahlsén; I C Gillberg; R Lindblom; C Gillberg
Journal:  Arch Neurol       Date:  1994-01

8.  Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

Authors:  A J Green; M Smith; J R Yates
Journal:  Nat Genet       Date:  1994-02       Impact factor: 38.330

9.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

10.  Identification and characterization of the tuberous sclerosis gene on chromosome 16.

Authors: 
Journal:  Cell       Date:  1993-12-31       Impact factor: 41.582
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  23 in total

Review 1.  New frontiers in modeling tuberous sclerosis with human stem cell-derived neurons and brain organoids.

Authors:  John D Blair; Helen S Bateup
Journal:  Dev Dyn       Date:  2019-05-23       Impact factor: 3.780

Review 2.  Molecular profiling of sarcomas: new vistas for precision medicine.

Authors:  Tariq Al-Zaid; Wei-Lien Wang; Neeta Somaiah; Alexander J Lazar
Journal:  Virchows Arch       Date:  2017-06-29       Impact factor: 4.064

3.  Exosomes mediate the acquisition of the disease phenotypes by cells with normal genome in tuberous sclerosis complex.

Authors:  B Patel; J Patel; J-H Cho; S Manne; S Bonala; E Henske; F Roegiers; M Markiewski; M Karbowniczek
Journal:  Oncogene       Date:  2015-10-05       Impact factor: 9.867

4.  Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

Authors:  Y Niida; A O Stemmer-Rachamimov; M Logrip; D Tapon; R Perez; D J Kwiatkowski; K Sims; M MacCollin; D N Louis; V Ramesh
Journal:  Am J Hum Genet       Date:  2001-07-20       Impact factor: 11.025

5.  Endocrine disruptor exposure during development increases incidence of uterine fibroids by altering DNA repair in myometrial stem cells.

Authors:  Lauren E Prusinski Fernung; Qiwei Yang; Daitoku Sakamuro; Alpana Kumari; Aymara Mas; Ayman Al-Hendy
Journal:  Biol Reprod       Date:  2018-10-01       Impact factor: 4.285

Review 6.  Lymphangioleiomyomatosis and TSC2-/- cells.

Authors:  Thomas N Darling; Gustavo Pacheco-Rodriguez; Alfredo Gorio; Elena Lesma; Cheryl Walker; Joel Moss
Journal:  Lymphat Res Biol       Date:  2010-03       Impact factor: 2.589

7.  Hamartin regulates cessation of mouse nephrogenesis independently of Mtor.

Authors:  Oded Volovelsky; Thi Nguyen; Alison E Jarmas; Alexander N Combes; Sean B Wilson; Melissa H Little; David P Witte; Eric W Brunskill; Raphael Kopan
Journal:  Proc Natl Acad Sci U S A       Date:  2018-05-21       Impact factor: 11.205

8.  The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells.

Authors:  Elena Lesma; Silvia Maria Sirchia; Silvia Ancona; Stephana Carelli; Silvano Bosari; Filippo Ghelma; Emanuele Montanari; Anna Maria Di Giulio; Alfredo Gorio
Journal:  Am J Pathol       Date:  2009-05-14       Impact factor: 4.307

9.  Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis.

Authors:  Sami H Erbay; Stephen A Oljeski; Rafeeque Bhadelia
Journal:  AJNR Am J Neuroradiol       Date:  2004-01       Impact factor: 3.825

10.  Genetics and molecular biology of tuberous sclerosis complex.

Authors:  Valerio Napolioni; Paolo Curatolo
Journal:  Curr Genomics       Date:  2008-11       Impact factor: 2.236
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