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Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/ajmg.a.38057openalex-snapshot
Acute myeloid leukemia in Baraitser–Winter cerebrofrontofacial syndrome
inferredcites →https://doi.org/10.1002/cm.20007openalex-snapshot
α‐actinin revisited: A fresh look at an old player
inferredcites →https://doi.org/10.1002/cm.21169openalex-snapshot
Insights into the effects of disease‐causing mutations in human actins
inferredcites →https://doi.org/10.1002/humu.22531openalex-snapshot
Jannovar: A Java Library for Exome Annotation
inferredcites →https://doi.org/10.1002/mds.26842openalex-snapshot
Dystonia‐deafness syndrome caused by a β‐actin gene mutation and response to deep brain stimulation
inferredcites →https://doi.org/10.1006/excr.1999.4543openalex-snapshot
Mechanisms of Myofibroblast Activity and Phenotypic Modulation
inferredcites →https://doi.org/10.1007/164_2016_43openalex-snapshot
Mammalian Actins: Isoform-Specific Functions and Diseases
inferredcites →https://doi.org/10.1007/s00018-013-1439-5openalex-snapshot
Myosin II in mechanotransduction: master and commander of cell migration, morphogenesis, and cancer
inferredcites →https://doi.org/10.1016/0022-2836(78)90020-7openalex-snapshot
At least six different actins are expressed in a higher mammal: An analysis based on the amino acid sequence of the amino-terminal tryptic peptide
inferredcites →https://doi.org/10.1016/0263-7855(96)00018-5openalex-snapshot
VMD: Visual molecular dynamics
inferredcites →https://doi.org/10.1016/j.ajhg.2013.01.015openalex-snapshot
ACTN1 Mutations Cause Congenital Macrothrombocytopenia
inferredcites →https://doi.org/10.1016/j.ajhg.2017.11.006openalex-snapshot
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
inferredcites →https://doi.org/10.1016/j.jid.2017.03.017openalex-snapshot
Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
inferredcites →https://doi.org/10.1016/j.str.2013.09.015openalex-snapshot
Myosin Structure, Allostery, and Mechano-Chemistry
inferredcites →https://doi.org/10.1038/35052082openalex-snapshot
Filamins as integrators of cell mechanics and signalling
inferredcites →https://doi.org/10.1038/79063openalex-snapshot
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
inferredcites →https://doi.org/10.1038/ejhg.2013.130openalex-snapshot
Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
inferredcites →https://doi.org/10.1038/ejhg.2014.95openalex-snapshot
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
inferredcites →https://doi.org/10.1038/nature18295openalex-snapshot
Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution
inferredcites →https://doi.org/10.1038/ng.1091openalex-snapshot
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
inferredcites →https://doi.org/10.1038/ng.806openalex-snapshot
A framework for variation discovery and genotyping using next-generation DNA sequencing data
inferredcites →https://doi.org/10.1038/nprot.2008.211openalex-snapshot
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
inferredcites →https://doi.org/10.1038/nrm2786openalex-snapshot
Non-muscle myosin II takes centre stage in cell adhesion and migration
inferredcites →https://doi.org/10.1038/nsmb.1789openalex-snapshot
Opening of tandem calponin homology domains regulates their affinity for F-actin
inferredcites →https://doi.org/10.1073/pnas.96.15.8693openalex-snapshot
A heterozygous mutation of β-actin associated with neutrophil dysfunction and recurrent infection
inferredcites →https://doi.org/10.1074/mcp.m111.015099openalex-snapshot
Cells Lacking β-Actin are Genetically Reprogrammed and Maintain Conditional Migratory Capacity*
inferredcites →https://doi.org/10.1084/jem.20100222openalex-snapshot
A novel interaction between FlnA and Syk regulates platelet ITAM-mediated receptor signaling and function
inferredcites →https://doi.org/10.1086/324267openalex-snapshot
Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes
inferredcites →https://doi.org/10.1086/379286openalex-snapshot
Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)
inferredcites →https://doi.org/10.1091/mbc.12.9.2730openalex-snapshot
Alpha-Smooth Muscle Actin Expression Upregulates Fibroblast Contractile Activity
inferredcites →https://doi.org/10.1091/mbc.e02-11-0729openalex-snapshot
α-Smooth Muscle Actin Is Crucial for Focal Adhesion Maturation in Myofibroblasts
inferredcites →https://doi.org/10.1093/bioinformatics/btp324openalex-snapshot
Fast and accurate short read alignment with Burrows–Wheeler transform
inferredcites →https://doi.org/10.1093/bioinformatics/bts635openalex-snapshot
STAR: ultrafast universal RNA-seq aligner
inferredcites →https://doi.org/10.1093/bioinformatics/btt285openalex-snapshot
Pathview: an R/Bioconductor package for pathway-based data integration and visualization
inferredcites →https://doi.org/10.1093/bioinformatics/btt487openalex-snapshot
RDAVIDWebService: a versatile R interface to DAVID
inferredcites →https://doi.org/10.1093/bioinformatics/btu170openalex-snapshot
Trimmomatic: a flexible trimmer for Illumina sequence data
inferredcites →https://doi.org/10.1093/bioinformatics/btw141openalex-snapshot
FRODOCK 2.0: fast protein–protein docking server
inferredcites →https://doi.org/10.1093/bioinformatics/btw313openalex-snapshot
Complex heatmaps reveal patterns and correlations in multidimensional genomic data
inferredcites →https://doi.org/10.1093/nar/gkt214openalex-snapshot
The Subread aligner: fast, accurate and scalable read mapping by seed-and-vote
inferredcites →https://doi.org/10.1096/fj.12-216531openalex-snapshot
Cooperation between β‐ and γ‐cytoplasmic actins in the mechanical regulation of endothelial microparticle formation
inferredcites →https://doi.org/10.1111/febs.13068openalex-snapshot
Molecular mechanisms of disease‐related human β‐actin mutations p.R183W and p.E364K
inferredcites →https://doi.org/10.1111/j.1365-2818.2006.01706.xopenalex-snapshot
A guided tour into subcellular colocalization analysis in light microscopy
inferredcites →https://doi.org/10.1126/scitranslmed.3009262openalex-snapshot
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
inferredcites →https://doi.org/10.1136/jmedgenet-2015-103511openalex-snapshot
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt
inferredcites →https://doi.org/10.1160/th09-01-0068openalex-snapshot
Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation
inferredcites →https://doi.org/10.1172/jci86154openalex-snapshot
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
inferredcites →https://doi.org/10.1182/blood-2007-02-071589openalex-snapshot
The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway
inferredcites →https://doi.org/10.1182/blood-2008-06-164061openalex-snapshot
Abnormal megakaryocyte morphology and proplatelet formation in mice with megakaryocyte-restricted MYH9 inactivation
inferredcites →https://doi.org/10.1182/blood-2011-04-348482openalex-snapshot
FlnA-null megakaryocytes prematurely release large and fragile platelets that circulate poorly
inferredcites →https://doi.org/10.1182/blood-2011-07-365601openalex-snapshot
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome
inferredcites →https://doi.org/10.1182/blood-2011-08-376566openalex-snapshot
GPIbα regulates platelet size by controlling the subcellular localization of filamin
inferredcites →https://doi.org/10.1182/blood-2015-10-675629openalex-snapshot
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
inferredcites →https://doi.org/10.1186/s13059-014-0550-8openalex-snapshot
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
inferredcites →https://doi.org/10.1242/jcs.041970openalex-snapshot
β- and γ-cytoplasmic actins display distinct distribution and functional diversity
inferredcites →https://doi.org/10.1371/journal.pone.0074728openalex-snapshot
A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family
inferredcites →https://doi.org/10.18632/oncotarget.3989openalex-snapshot
Tumor promotion by γ and suppression by β non-muscle actin isoforms
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