Literature DB >> 7581393

A de novo frame-shift mutation in the tuberin gene.

A Kumar1, C Wolpert, R S Kandt, J Segal, J Pufky, A D Roses, M A Pericak-Vance, J R Gilbert.   

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Year:  1995        PMID： 7581393     DOI： 10.1093/hmg/4.8.1471

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  10 in total

1.  Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

Authors:  M van Slegtenhorst; S Verhoef; A Tempelaars; L Bakker; Q Wang; M Wessels; R Bakker; M Nellist; D Lindhout; D Halley; A van den Ouweland
Journal:  J Med Genet       Date:  1999-04       Impact factor: 6.318

2.  Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

Authors:  J B Ali; T Sepp; S Ward; A J Green; J R Yates
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

3.  Inactivation of the cyclin-dependent kinase inhibitor p27 upon loss of the tuberous sclerosis complex gene-2.

Authors:  T Soucek; R S Yeung; M Hengstschläger
Journal:  Proc Natl Acad Sci U S A       Date:  1998-12-22       Impact factor: 11.205

4.  Report of a critical recombination further narrowing the TSC1 region.

Authors:  K S Au; J Murrell; A Buckler; S H Blanton; H Northrup
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

5.  Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

Authors:  K S Au; J A Rodriguez; J L Finch; K A Volcik; E S Roach; M R Delgado; E Rodriguez; H Northrup
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

Review 6.  Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Authors:  A C Jones; M M Shyamsundar; M W Thomas; J Maynard; S Idziaszczyk; S Tomkins; J R Sampson; J P Cheadle
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

7.  Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Authors:  R Vrtel; S Verhoef; K Bouman; M M Maheshwar; M Nellist; A J van Essen; P L Bakker; C J Hermans; M T Bink-Boelkens; R M van Elburg; M Hoff; D Lindhout; J Sampson; D J Halley; A M van den Ouweland
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

8.  Genomewide analysis of inherited variation associated with phosphorylation of PI3K/AKT/mTOR signaling proteins.

Authors:  Janna E Hutz; W Aaron Manning; Michael A Province; Howard L McLeod
Journal:  PLoS One       Date:  2011-09-19       Impact factor: 3.240

9.  Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5.

Authors:  Vineeta Bajaj; Manjunath Markandaya; Lingegowda Krishna; Arun Kumar
Journal:  BMC Genet       Date:  2004-06-03       Impact factor: 2.797

10.  Intragenic Tsc2 somatic mutations as Knudson's second hit in spontaneous and chemically induced renal carcinomas in the Eker rat model.

Authors:  T Kobayashi; S Urakami; Y Hirayama; T Yamamoto; M Nishizawa; T Takahara; Y Kubo; O Hino
Journal:  Jpn J Cancer Res       Date:  1997-03
  10 in total

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