Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7
about
The small GTPase RalA targets filamin to induce filopodiaFATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscleIndications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilinHuman beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein IbalphaA family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptorTranscriptional organization of a 450-kb region of the human X chromosome in Xq28Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneFilamin 2 (FLN2): A muscle-specific sarcoglycan interacting proteinInteraction of presenilins with the filamin family of actin-binding proteinsThe SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actinCongruence of tissue expression profiles from Gene Expression Atlas, SAGEmap and TissueInfo databasesCharacterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formationLoss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structureFilamin structure, function and mechanics: are altered filamin-mediated force responses associated with human disease?X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.Epilepsy and genetic malformations of the cerebral cortex.The dual role of filamin A in cancer: can't live with (too much of) it, can't live without it.Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.Mutations responsible for Larsen syndrome cluster in the FLNB protein.Filamin C-related myopathies: pathology and mechanisms.Myofibrillar Z-discs Are a Protein Phosphorylation Hot Spot with Protein Kinase C (PKCα) Modulating Protein Dynamics.Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
P2860
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P2860
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7
description
1993 nî lūn-bûn
@nan
1993 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Mapping of two genes encoding ...... n, to Xq28 and to chromosome 7
@ast
Mapping of two genes encoding ...... n, to Xq28 and to chromosome 7
@en
Mapping of two genes encoding ...... n, to Xq28 and to chromosome 7
@nl
type
label
Mapping of two genes encoding ...... n, to Xq28 and to chromosome 7
@ast
Mapping of two genes encoding ...... n, to Xq28 and to chromosome 7
@en
Mapping of two genes encoding ...... n, to Xq28 and to chromosome 7
@nl
prefLabel
Mapping of two genes encoding ...... n, to Xq28 and to chromosome 7
@ast
Mapping of two genes encoding ...... n, to Xq28 and to chromosome 7
@en
Mapping of two genes encoding ...... n, to Xq28 and to chromosome 7
@nl
P2093
P356
P1476
Mapping of two genes encoding ...... n, to Xq28 and to chromosome 7
@en
P2093
A Frattini
C Patrosso
E Maestrini
P304
P356
10.1093/HMG/2.6.761
P407
P577
1993-06-01T00:00:00Z