Germline mutation of INI1/SMARCB1 in familial schwannomatosis - Wikidata - wikimedia - TriplyDB

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

http://www.wikidata.org/entity/Q24682982

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The SWI/SNF Subunit INI1 Contains an N-Terminal Winged Helix DNA Binding Domain that Is a Target for Mutations in Schwannomatosis Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors SWI/SNF chromatin remodeling complexes and cancer The SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseases Immortalized Human Schwann Cell Lines Derived From Tumors of Schwannomatosis Patients Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.Neurofibromatosis type 2.Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2.Radiographic association of schwannomas with sensory ganglia.Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms The molecular biology of vestibular schwannomas and its association with hearing loss: a review.Pathogenesis of vestibular schwannoma in ring chromosome 22 Therapeutically targeting cyclin D1 in primary tumors arising from loss of Ini1.Generation of a mouse model of atypical teratoid/rhabdoid tumor of the central nervous system through combined deletion of Snf5 and p53.Prognostic value of MIB-1, p53, epidermal growth factor receptor, and INI1 in childhood chordomas.Imprinted CDKN1C is a tumor suppressor in rhabdoid tumor and activated by restoration of SMARCB1 and histone deacetylase inhibitors Rapid detection of SMARCB1 sequence variation using high resolution melting.Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1 SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis Chromatin-regulating proteins as targets for cancer therapy.SWI/SNF chromatin remodeling enzymes in melanocyte differentiation and melanoma.Cribriform neuroepithelial tumor in the third ventricle: a case report and literature review.A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas Consistent SMARCB1 homozygous deletions in epithelioid sarcoma and in a subset of myoepithelial carcinomas can be reliably detected by FISH in archival material.Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician.Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.Comparative oncogenomic analysis of copy number alterations in human and zebrafish tumors enables cancer driver discovery Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.Fibroblast growth factor receptors as novel therapeutic targets in SNF5-deleted malignant rhabdoid tumors Genome-wide approach to identify second gene targets for malignant rhabdoid tumors using high-density oligonucleotide microarrays.p16INK4A and p14ARF tumor suppressor pathways are deregulated in malignant rhabdoid tumors.TCR-dependent transformation of mature memory phenotype T cells in mice.Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation Expanding the mutational spectrum of LZTR1 in schwannomatosis.Recent developments in brain tumor predisposing syndromes.

P2860

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P2860

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

http://www.wikidata.org/entity/Q24682982

description

2007 nî lūn-bûn

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2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2007 թվականի ապրիլին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

@ast

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

@en

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

@nl

type

label

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

@ast

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

@en

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

@nl

prefLabel

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

@ast

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

@en

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

@nl

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American Journal of Human Genetics

P1476

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

@en

P2093

Astrid S Plomp

http://www.w3.org/2001/XMLSchema#string

Els C Robanus-Maandag

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Ruud A Wolterman

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Theo J M Hulsebos

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P2860

Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene.

Mutation and cancer: statistical study of retinoblastoma

The mouse ortholog of the human SMARCB1 gene encodes two splice forms

Diagnostic criteria for schwannomatosis

Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

Schwannomatosis: a clinical and pathologic study

Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis

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805-10

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scholarly article

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10.1086/513207

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4

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80

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Pieter Wesseling

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2007-04-01T00:00:00Z

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6450285

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17357086

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1852715

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