(Q34393793)

1 August 2017

title

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas (English)

1 reference

1 August 2017

Linlea Armstrong

10

0 references

Molly S. Daniels

Molly S Daniels

15

0 references

David K. Crossman

David K Crossman

9

0 references

Arkadiusz Piotrowski

Arkadiusz Piotrowski

1

0 references

Chuanhua Yu

7

Chuanhua Fu

1 reference

1 August 2017

Jing Xie

2

1 reference

1 August 2017

Ying F Liu

3

1 reference

1 August 2017

Andrzej B Poplawski

4

1 reference

1 August 2017

Alicia R Gomes

5

1 reference

1 August 2017

Piotr Madanecki

6

1 reference

1 August 2017

Michael R Crowley

8

1 reference

1 August 2017

Dusica Babovic-Vuksanovic

11

1 reference

1 August 2017

Amanda Bergner

12

1 reference

1 August 2017

Jaishri O Blakeley

13

1 reference

1 August 2017

Andrea L Blumenthal

14

1 reference

1 August 2017

Howard Feit

16

1 reference

1 August 2017

Kathy Gardner

17

1 reference

1 August 2017

Stephanie Hurst

18

1 reference

1 August 2017

Christine Kobelka

19

1 reference

1 August 2017

Chung Lee

20

1 reference

1 August 2017

Rebecca Nagy

21

1 reference

1 August 2017

Katherine A Rauen

22

1 reference

1 August 2017

John M Slopis

23

1 reference

1 August 2017

Pim Suwannarat

24

1 reference

1 August 2017

Judith A Westman

25

1 reference

1 August 2017

Andrea Zanko

26

1 reference

1 August 2017

Bruce R Korf

27

1 reference

1 August 2017

Ludwine M Messiaen

28

1 reference

1 August 2017

language of work or name

English

0 references

publication date

22 December 2013

1 reference

1 August 2017

1 reference

1 August 2017

volume

46

1 reference

1 August 2017

issue

2

1 reference

1 August 2017

page(s)

182-187

1 reference

The integrated landscape of driver genomic alterations in glioblastoma

1 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=4352302

Update on the Kelch-like (KLHL) gene family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

The novel BTB-kelch protein, KBTBD8, is located in the Golgi apparatus and translocates to the spindle apparatus during mitosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Structural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin Ligases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

An integrated map of genetic variation from 1,092 human genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Adaptor protein self-assembly drives the control of a cullin-RING ubiquitin ligase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

AR42, a novel histone deacetylase inhibitor, as a potential therapy for vestibular schwannomas and meningiomas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

CDD: a Conserved Domain Database for the functional annotation of proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

MutationTaster evaluates disease-causing potential of sequence alterations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

An atlas of combinatorial transcriptional regulation in mouse and man

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

The Sequence Alignment/Map format and SAMtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Protein structure prediction on the Web: a case study using the Phyre server

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

CDD: specific functional annotation with the Conserved Domain Database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

The SWISS-MODEL Repository and associated resources

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Oncogenic BRAF induces senescence and apoptosis through pathways mediated by the secreted protein IGFBP7.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Expression of SMARCB1 modulates steroid sensitivity in human lymphoblastoid cells: identification of a promoter SNP that alters PARP1 binding and SMARCB1 expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

MyHits: improvements to an interactive resource for analyzing protein sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

WoLF PSORT: protein localization predictor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Germline mutation of INI1/SMARCB1 in familial schwannomatosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Born to bind: the BTB protein-protein interaction domain.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

POZ for effect--POZ-ZF transcription factors in cancer and development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

AceView: a comprehensive cDNA-supported gene and transcripts annotation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

INI1/hSNF5/BAF47 represses c-fos transcription via a histone deacetylase-dependent manner

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Sequence and structural analysis of BTB domain proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

The BACK domain in BTB-kelch proteins.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Crystal structure of the Kelch domain of human Keap1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

CD-Search: protein domain annotations on the fly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Familial schwannomatosis: exclusion of the NF2 locus as the germline event

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Predicting deleterious amino acid substitutions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

A novel nuclear receptor corepressor complex, N-CoR, contains components of the mammalian SWI/SNF complex and the corepressor KAP-1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

The kelch repeat superfamily of proteins: propellers of cell function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

PSORT: a program for detecting sorting signals in proteins and predicting their subcellular localization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

The BCL-6 POZ domain and other POZ domains interact with the co-repressors N-CoR and SMRT.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Components of the SMRT corepressor complex exhibit distinctive interactions with the POZ domain oncoproteins PLZF, PLZF-RARalpha, and BCL-6

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4352302

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

6 July 2018

1 reference

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

21 January 2018

1 reference

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

21 January 2018

1 reference

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

21 January 2018

1 reference

21 January 2018

Familial breast cancer.

1 reference

Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.

21 January 2018

1 reference

Protein Modeling by E-mail

21 January 2018

1 reference

Identification of proteins interacting with Toxoplasma SRCAP by yeast two-hybrid screening

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24362817

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24362817

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2855

1 reference

1 August 2017

1 reference

1 August 2017

1 reference