(Q30692065)

English

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

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scholarly article

1 reference

Europe PubMed Central

15 October 2017

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

1 reference

Europe PubMed Central

15 October 2017

1 reference

based on heuristic

inferred from title

tuberous sclerosis

1 reference

based on heuristic

inferred from title

tuberous sclerosis 1

1 reference

based on heuristic

inferred from title

author name string

Y Niida

1

1 reference

Europe PubMed Central

15 October 2017

A O Stemmer-Rachamimov

2

1 reference

Europe PubMed Central

15 October 2017

M Logrip

3

1 reference

Europe PubMed Central

15 October 2017

D Tapon

4

1 reference

Europe PubMed Central

15 October 2017

R Perez

5

1 reference

Europe PubMed Central

15 October 2017

D J Kwiatkowski

6

1 reference

Europe PubMed Central

15 October 2017

K Sims

7

1 reference

Europe PubMed Central

15 October 2017

M MacCollin

8

1 reference

Europe PubMed Central

15 October 2017

D N Louis

9

1 reference

Europe PubMed Central

15 October 2017

V Ramesh

10

1 reference

Europe PubMed Central

15 October 2017

language of work or name

0 references

publication date

20 July 2001

1 reference

Europe PubMed Central

15 October 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

15 October 2017

69

1 reference

Europe PubMed Central

15 October 2017

493-503

1 reference

Europe PubMed Central

15 October 2017

3

1 reference

Europe PubMed Central

15 October 2017

NF1 tumor suppressor gene function: narrowing the GAP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Molecular genetic advances in tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Tumor suppressor genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Complete inactivation of the TSC2 gene leads to formation of hamartomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Mutation of Pten/Mmac1 in mice causes neoplasia in multiple organ systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

The murine gene p27Kip1 is haplo-insufficient for tumour suppression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Pten is essential for embryonic development and tumour suppression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Loss of heterozygosity in tuberous sclerosis hamartomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Early detection of Knudson's two-hits in preneoplastic renal cells of the Eker rat model by the laser microdissection procedure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Allelic loss at the tuberous sclerosis 2 locus in spontaneous tumors in the Eker rat.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

A (CA)n dinucleotide repeat assay for evaluating loss of allelic heterozygosity in small and archival human brain tumor specimens.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

14 July 2018

5' CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/CDKN2/MTS1 in human cancers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

28 July 2018

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

25 November 2018

Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

25 November 2018

Loss of the TSC2 product tuberin in subependymal giant-cell tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

25 November 2018

The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

25 November 2018

Co-localization of TSC1 and TSC2 gene products in tubers of patients with tuberous sclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

25 November 2018

Expression and differential splicing of the mouse TSC2 homolog.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

25 November 2018

Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235480

25 November 2018

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11468687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allelic loss at the predisposing gene locus in spontaneous and chemically induced renal cell carcinomas in the Eker rat

1 reference

https://pubmed.ncbi.nlm.nih.gov/11468687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/11468687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

1 reference

https://pubmed.ncbi.nlm.nih.gov/11468687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of meningiomas by methylation- and transcription-based clonality assays

1 reference

https://pubmed.ncbi.nlm.nih.gov/11468687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/11468687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2

1 reference

https://pubmed.ncbi.nlm.nih.gov/11468687

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

15 October 2017

1 reference

Europe PubMed Central

15 October 2017

1 reference

Europe PubMed Central

15 October 2017

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