About: Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings

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About: Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings Goto Sponge NotDistinct Permalink

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scientific article published on 19 December 2019

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) im Dezember 2019 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'avientu de 2019 (ast) наукова стаття, опублікована 19 грудня 2019 (uk) scientific article published on 19 December 2019 (en) գիտական հոդված հրատարակված 2019 թվականի դեկտեմբերի 19-ին (hy)
publication date	wds:Q91679568-B33716AF-44D7-44B6-B031-E07CD55BC99F
publication date	2019-12-19 00:00:00Z (xsd:dateTime)
cites work	wds:Q91679568-05D9CA8F-D436-4FEB-AC8B-063C679917C8 wds:Q91679568-19D38318-4838-49F6-9758-4EA0D7421756 wds:Q91679568-28D0316F-3C86-4013-9F12-0A33604F7EBE wds:Q91679568-336D2359-AEF7-47E9-82E1-68913BB14F39 wds:Q91679568-39AF7149-EBDB-4305-8D4A-2F25A37AE861 wds:Q91679568-3BBE302B-7D1A-4A64-A47D-071CD10CB6CD wds:Q91679568-3FCF3B49-9CA4-48E4-94D1-919A91194532 wds:Q91679568-4DB46A78-BC1D-4444-9233-63BDF07B422F wds:Q91679568-534C68FE-B654-4F3D-A86B-46BA6EF8516D wds:Q91679568-5BFA0E18-AD11-4ECB-8754-E5318557193C wds:Q91679568-5D52A36F-32EF-4465-AF6C-5C6842556C4A wds:Q91679568-62374081-8882-4B03-BC00-74E8D887C35F wds:Q91679568-6A9320D4-E0F2-47E0-841D-3F01EA491C78 wds:Q91679568-7186506D-5816-4C7C-84BD-6391E9ED5C22 wds:Q91679568-72710C72-B1FF-4301-BD26-D79F50BA7850 wds:Q91679568-75C8C154-912B-45C8-A40A-B6FDFD3195D8 wds:Q91679568-87C9FCFA-7656-47E0-AA3F-EBDA8C566F40 wds:Q91679568-9183ABDC-65DD-4DE2-BDD1-1F26E178B1EA wds:Q91679568-A8C22560-BBCD-4F9E-AD3F-615A6D1EBCCF wds:Q91679568-A95F724B-FA18-4FAC-969F-297BD7ED5889 wds:Q91679568-AADA4E08-A5EE-46E1-A15F-33AB2E7AC512 wds:Q91679568-C0E06FEC-D3E6-4577-BE07-4399B9259221 wds:Q91679568-C1883834-381C-4CBC-9F77-0F8FD76ACDA1 wds:Q91679568-C6E48E6F-E160-43D8-8772-E2F579E6680A wds:Q91679568-CA73ECC6-7A80-4D5A-8FF6-C359DAD5961F wds:Q91679568-D0EB88C9-03C0-4E78-83DB-BFE3F1563B46 wds:Q91679568-E70212E6-2955-458D-A029-2A4109294F97 wds:Q91679568-F6267F09-0F7D-4B32-8EA6-5A1B64FAE7D3 wds:Q91679568-FA880B40-8130-47B3-A20F-6628F5BAEC67
cites work	Identification and characterization of the tuberous sclerosis gene on chromosome 16 Genome engineering using the CRISPR-Cas9 system The Sestrins interact with GATOR2 to negatively regulate the amino-acid-sensing pathway upstream of mTORC1 Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference Multiplex genome engineering using CRISPR/Cas systems Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 Spatial control of the TSC complex integrates insulin and nutrient regulation of mTORC1 at the lysosome The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits Scalable web services for the PSIPRED Protein Analysis Workbench. The TSC1-TSC2 complex: a molecular switchboard controlling cell growth The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling The GTPase-activating protein Rap1GAP uses a catalytic asparagine The Rap-RapGAP complex: GTP hydrolysis without catalytic glutamine and arginine residues Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome CCTop: An Intuitive, Flexible and Reliable CRISPR/Cas9 Target Prediction Tool Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Updated recommendation for the benign stand-alone ACMG/AMP criterion Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios
author name string	wds:Q91679568-001891DF-4CF2-4EC1-8707-BC090FFBDFEE wds:Q91679568-086367AA-5EFF-43A6-97B4-B6D567DC2789 wds:Q91679568-2ED46719-B12C-4500-BCC2-F49F2316265F wds:Q91679568-49BC96F3-E9B9-409D-874A-51AFD7DCD289 wds:Q91679568-6145BA83-149F-47E9-93F3-1A6020F9E644 wds:Q91679568-6540697E-63A8-4094-96FF-35C8EDA2680B wds:Q91679568-73B736C0-6E5A-4D26-B426-7F12C9C804BA wds:Q91679568-809E8F8D-5F5E-4F48-9B42-8EDF6324FF00 wds:Q91679568-9330C5B9-8CD3-42E1-917A-EB866686A9A5 wds:Q91679568-C522F40B-B2CF-4304-8A0C-C3C9D3AA49C0 wds:Q91679568-D7371033-E065-473E-B01A-8807D9EED3B0
author name string	Sue Povey Daniel Kümmel Andrea Zonta Nicola Migone Peter Elfferich Annegien Kenter Gerben Schaaf Luiz G Dufner Almeida Mitra Hosseinzadeh Regina Kom-Gortat Santoesha Nanhoe
rdfs:label	Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings (en) Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings (nl)
skos:prefLabel	Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings (en) Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings (nl)
name	Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings (en) Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings (nl)
author	wds:Q91679568-00BFA7FB-36BC-4390-B557-C336E45711CD wds:Q91679568-D7B20DE6-B0BF-477C-80D1-C04259E5E35E
author	Rosemary Ekong Mark Nellist
title	wds:Q91679568-C8B5D690-7DA2-4D3A-8363-6E51AAC74EC1

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