New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex (Q38983786)

1 June 2018

review article

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title

New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex (English)

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1 June 2018

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3

Elizabeth P Henske

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1 June 2018

author name string

Hilaire C Lam

series ordinal

1

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1 June 2018

Julie Nijmeh

series ordinal

2

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1 June 2018

publication date

29 November 2016

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1 June 2018

published in

Journal of Pathology

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1 June 2018

volume

241

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1 June 2018

issue

2

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1 June 2018

page(s)

219-225

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1 June 2018

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development

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Evidence Supporting a Lymphatic Endothelium Origin for Angiomyolipoma, a TSC2(-) Tumor Related to Lymphangioleiomyomatosis

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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

17 June 2018

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Tuberous Sclerosis Complex: State-of-the-Art Review with a Focus on Pulmonary Involvement

17 June 2018

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Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

17 June 2018

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17 June 2018

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

17 June 2018

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Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements.

17 June 2018

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Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy

17 June 2018

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17 June 2018

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

17 June 2018

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Sirolimus decreases circulating lymphangioleiomyomatosis cells in patients with lymphangioleiomyomatosis

17 June 2018

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

17 June 2018

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Lymphangioleiomyomatosis - a wolf in sheep's clothing.

17 June 2018

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Radiological evidence of lymphangioleiomyomatosis in female and male patients with tuberous sclerosis complex

17 June 2018

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The Mechanisms of UV Mutagenesis

17 June 2018

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Efficacy and safety of sirolimus in lymphangioleiomyomatosis

17 June 2018

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Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis.

17 June 2018

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Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis

17 June 2018

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Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas

17 June 2018

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Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States

17 June 2018

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The tuberous sclerosis complex

17 June 2018

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Embryology of the neural crest: its inductive role in the neurocutaneous syndromes

17 June 2018

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Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Metastasis of benign tumor cells in tuberous sclerosis complex

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism.

17 June 2018

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Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis

17 June 2018

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The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis

17 June 2018

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

17 June 2018

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Pulmonary lymphangioleiomyomatosis in a man.

17 June 2018

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

17 June 2018

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Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis

17 June 2018

1 reference

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Renal lesion growth in children with tuberous sclerosis complex

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Micronodular Pneumocyte Hyperplasia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

History of the tuberous sclerosis complex

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Hereditary cancer: two hits revisited

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Identification and characterization of the tuberous sclerosis gene on chromosome 16

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Evidence for genetic heterogeneity in tuberous sclerosis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Molecular basis of giant cells in tuberous sclerosis complex.

21 August 2018

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Tuberous sclerosis-associated renal cell carcinoma: a clinicopathologic study of 57 separate carcinomas in 18 patients

21 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Differentiation between Birt–Hogg–Dubé syndrome and lymphangioleiomyomatosis: Quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females

21 August 2018

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Tuberous Sclerosis Complex Renal Disease

21 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Loss of heterozygosity on tuberous sclerosis complex genes in multifocal micronodular pneumocyte hyperplasia

21 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167646

Multifocal alveolar hyperplasia associated with lymphangioleiomyomatosis in tuberous sclerosis

21 August 2018

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Crossref

https://api.crossref.org/works/10.1002/PATH.4827

Lymphangiogenesis-Mediated Shedding of LAM Cell Clusters as a Mechanism for Dissemination in Lymphangioleiomyomatosis

21 January 2018

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Crossref

https://api.crossref.org/works/10.1002/PATH.4827

The cutaneous features of tuberous sclerosis: a population study

21 January 2018

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12 December 2020

Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients

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12 December 2020

Epidemiology of tuberous sclerosis

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12 December 2020

Pathology of the adventitial dermis. Anatomic observations and biologic speculations

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12 December 2020

Activation of the mTOR signaling pathway in renal clear cell carcinoma

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12 December 2020

Somatic mosaicism and clinical variation in tuberous sclerosis complex

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12 December 2020

Tuberous sclerosis. Special reference to the microscopic alterations in the cutaneous hamartomas

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12 December 2020

Renal involvement in tuberous sclerosis

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12 December 2020

Tuberous sclerosis complex

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12 December 2020

Identifiers

DOI

10.1002/PATH.4827

1 reference

1 June 2018

PMC publication ID

5167646

1 reference

1 June 2018

PubMed publication ID

27753446

1 reference

1 June 2018