(Q35163442)

6 August 2017

title

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex (English)

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6 August 2017

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Trevor J Pugh

5

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Katarzyna Kotulska

object named as

Katarzyna Kotulska

10

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Sergiusz Jóźwiak

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Sergiusz Jozwiak

2

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author name string

Magdalena E Tyburczy

1

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6 August 2017

Izabela A Malinowska

3

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6 August 2017

Yvonne Chekaluk

4

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6 August 2017

Chin-Lee Wu

6

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6 August 2017

Robert L Nussbaum

7

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6 August 2017

Sara Seepo

8

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6 August 2017

Tomasz Dzik

9

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6 August 2017

David J Kwiatkowski

11

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6 August 2017

publication date

28 November 2014

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6 August 2017

published in

Human Molecular Genetics

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6 August 2017

volume

24

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6 August 2017

issue

7

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6 August 2017

page(s)

1836-1842

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The somatic genomic landscape of chromophobe renal cell carcinoma

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Renal cell carcinoma in tuberous sclerosis complex

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

MET is a potential target across all papillary renal cell carcinomas: result from a large molecular study of pRCC with CGH array and matching gene expression array

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Discovery and saturation analysis of cancer genes across 21 tumour types

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Comprehensive molecular characterization of clear cell renal cell carcinoma

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Mutations in Hedgehog pathway genes in fetal rhabdomyomas

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Succinate is an inflammatory signal that induces IL-1β through HIF-1α.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Perivascular epithelioid cell tumors (PEComas) harboring TFE3 gene rearrangements lack the TSC2 alterations characteristic of conventional PEComas: further evidence for a biological distinction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Integrative genomics viewer

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Fast and accurate long-read alignment with Burrows-Wheeler transform

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

The Sequence Alignment/Map format and SAMtools

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Germline SDHB mutations and familial renal cell carcinoma.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

The TSC1-TSC2 complex is required for proper activation of mTOR complex 2

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Succinate dehydrogenase and human diseases: new insights into a well-known enzyme

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Renal lesion growth in children with tuberous sclerosis complex

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

A cross sectional study of renal involvement in tuberous sclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Renal cell carcinoma in patients with tuberous sclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Malignant renal tumors in tuberous sclerosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Tuberous sclerosis complex renal disease.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

TACC3-TSC2 maintains nuclear envelope structure and controls cell division.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355019

Renal angiomyolipoma associated with lymph node involvement and renal cell carcinoma in patients with tuberous sclerosis

27 September 2018

1 reference

12 December 2020

Bilateral chromophobe cell renal carcinoma in tuberous sclerosis complex

1 reference

12 December 2020

Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: the identification of malignant epithelioid angiomyolipoma

1 reference

12 December 2020

Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDU597

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6 August 2017

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6 August 2017

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