Literature DB >> 7927344

Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families.

B Janssen1, J Sampson, M van der Est, W Deelen, S Verhoef, I Daniels, A Hesseling, P Brook-Carter, M Nellist, D Lindhout.   

Abstract

Tuberous sclerosis (TSC) is a heterogeneous trait. Since 1990, linkage studies have yielded putative TSC loci on chromosomes 9, 11, 12 and 16. Our current analysis, performed on 14 Dutch and British families, reveals only evidence for loci on chromosome 9q34 (TSC1) and chromosome 16p13 (TSC2). We have found no indication for a third locus for TSC, linked or unlinked to either of these chromosomal regions. The majority of our families shows linkage to chromosome 9. We have refined the candidate region for TSC1 to a region of approximately 5 cM between ABL and ABO.

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Year:  1994        PMID： 7927344     DOI： 10.1007/bf00201608

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  16 in total

1.  Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

Authors:  H Northrup; D J Kwiatkowski; E S Roach; W B Dobyns; R A Lewis; G E Herman; E Rodriguez; S P Daiger; S H Blanton
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

2.  A comparative study on genetic heterogeneity in tuberous sclerosis: evidence for one gene on 9q34 and a second gene on 11q22-23.

Authors:  L A Janssen; S Povey; J Attwood; L A Sandkuyl; D Lindhout; P Flodman; M Smith; J R Sampson; J L Haines; E C Merkens
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

3.  An attempt to map two genes for tuberous sclerosis using novel two-point methods.

Authors:  S Povey; J Attwood; L A Janssen; M Burley; M Smith; P Flodman; N E Morton; J H Edwards; J R Sampson; J R Yates
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

4.  The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.

Authors:  G G Germino; D Weinstat-Saslow; H Himmelbauer; G A Gillespie; S Somlo; B Wirth; N Barton; K L Harris; A M Frischauf; S T Reeders
Journal:  Genomics       Date:  1992-05       Impact factor: 5.736

5.  Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993.

Authors:  D J Kwiatkowski; J Armour; A E Bale; J W Fountain; D Goudie; J L Haines; M A Knowles; A Pilz; S Slaugenhaupt; S Povey
Journal:  Cytogenet Cell Genet       Date:  1993

6.  A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus.

Authors:  R Fahsold; H D Rott; P Lorenz
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

7.  Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.

Authors:  J R Sampson; L A Janssen; L A Sandkuijl
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

8.  Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.

Authors:  R S Kandt; J L Haines; M Smith; H Northrup; R J Gardner; M P Short; K Dumars; E S Roach; S Steingold; S Wall
Journal:  Nat Genet       Date:  1992-09       Impact factor: 38.330

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

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

10.  Genetic heterogeneity in tuberous sclerosis.

Authors:  L A Janssen; L A Sandkuyl; E C Merkens; J A Maat-Kievit; J R Sampson; P Fleury; R C Hennekam; G C Grosveld; D Lindhout; D J Halley
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736
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  7 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.  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

3.  Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues.

Authors:  R Wienecke; J C Maize; J A Reed; J de Gunzburg; R S Yeung; J E DeClue
Journal:  Am J Pathol       Date:  1997-01       Impact factor: 4.307

4.  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

5.  Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.

Authors:  J R Sampson; A Patel; A D Mee
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

Review 6.  Autism and tuberous sclerosis.

Authors:  S L Smalley
Journal:  J Autism Dev Disord       Date:  1998-10

7.  Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation. Possible treatment options for TSC and LAM.

Authors:  Elena Lesma; Vera Grande; Silvia Ancona; Stephana Carelli; Anna Maria Di Giulio; Alfredo Gorio
Journal:  PLoS One       Date:  2008-10-29       Impact factor: 3.240
  7 in total

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