Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
about
Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desminGenomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3Keep your heart in shape: molecular chaperone networks for treating heart diseaseImpaired cardiac contractility response to hemodynamic stress in S100A1-deficient miceOverexpression of semicarbazide-sensitive amine oxidase in human myopathiesN-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathyMyopathic changes in murine skeletal muscle lacking syneminCardiomyopathy in α-kinase 3 (ALPK3)-deficient miceLMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic miceMyocardial fibrosis in desmin-related hypertrophic cardiomyopathy.Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.Identification of Nd1, a novel murine kelch family protein, involved in stabilization of actin filaments.Intermediate filaments: a historical perspectiveNovel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.Genetic causes of human heart failure.Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in miceProteasome functional insufficiency activates the calcineurin-NFAT pathway in cardiomyocytes and promotes maladaptive remodelling of stressed mouse hearts.Desmin-related myopathies in mice and man.Desmin mutations and arrhythmogenic right ventricular cardiomyopathyPatient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association oClinical and genetic aspects of distal myopathies.Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encounteredA novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathyMolecular mechanisms of inherited cardiomyopathies.Mutation in BAG3 causes severe dominant childhood muscular dystrophy.Muscle wasting induced by HTLV-1 tax-1 protein: an in vitro and in vivo study.Cardiomyocyte mitochondrial oxidative stress and cytoskeletal breakdown in the heart with a primary volume overload.Abnormal accumulation of desmin in gastrocnemius myofibers of patients with peripheral artery disease: associations with altered myofiber morphology and density, mitochondrial dysfunction and impaired limb function.Desmin-related cardiomyopathy: an unfolding storyThe sarcomeric Z-disc and Z-discopathies.Molecular genetics of arrhythmias and cardiovascular conditions associated with arrhythmias.How do mutations in lamins A and C cause disease?Global gene expression profiling of end-stage dilated cardiomyopathy using a human cardiovascular-based cDNA microarray.Autophagy in cardiac plasticity and diseaseExtensive induction of important mediators of fibrosis and dystrophic calcification in desmin-deficient cardiomyopathy.Mice deleted for heart-type cytochrome c oxidase subunit 7a1 develop dilated cardiomyopathy.Class III PI3K-mediated prolonged activation of autophagy plays a critical role in the transition of cardiac hypertrophy to heart failure.
P2860
Q24291234-CBA12904-1647-40C3-AA92-5E898A99EB6AQ24800985-DF43F743-3915-4B16-96BC-6A66BC81FE32Q27010429-097A3879-000F-4D2C-8F5A-D83B9CDEA061Q28209366-996687FD-E9BB-46AE-8B6D-53219DDD86A4Q28241833-61BFF2F5-E026-4D79-9844-100F3648B89AQ28533968-C0EE110E-9544-4350-941E-67994832B71EQ28588288-84E30091-42A8-43C0-9A6D-1D7D7FF44A5AQ28589708-CF48CAC1-F6D3-4514-A39C-69C44FA0735CQ28594207-CC269D81-3B9D-4080-8B82-F0A9E9C4D242Q30478230-50CF845F-9CA6-4460-BF66-3399FA9D0202Q30847057-24E8485A-8FEC-4C8C-B111-5C1D11A59AE1Q31108300-A5E16FA3-2526-4F58-B569-57B65F96FEA9Q33284286-F7F6B85E-42E7-4B35-82C5-26EA51763F56Q33587172-FED7B2E2-DE8A-4C3C-889D-9B414757CCB1Q33683773-E7BC4B5C-EEEA-488D-8763-F3661F4B45B2Q34155789-D4919BC9-5E9F-4752-A4E7-108956D8E4AFQ34231667-8395369E-6533-40B3-84F6-3D91FEF75E26Q34275603-9A46C384-EF57-489F-A661-B87F06DAF4C7Q34285865-CD1C4E34-60EA-4182-8DE6-0038638DA4C7Q34312860-1F86F292-F827-48E3-817E-E14AD1D9CA22Q34321612-5120506C-CBE6-4724-B20F-BDCA3A256CA5Q34386584-AA5AA780-7B11-4001-86D9-7A1B83D93306Q34464423-9024E8D2-E079-4CC8-8EB6-00DC7BE1953CQ34479143-7D949DD3-1DC9-40F4-A71E-F60327ABB5D9Q34728529-FEAFD23B-A85D-4A26-89AA-476C6C712B16Q34788154-66BAE51D-4599-4FC7-A868-9F87A2CD5FFCQ34882653-E0A181A6-3BC5-43EA-A002-00A357F69F46Q34904884-56543A19-DE38-4C69-8370-3595A1A9EA02Q35094510-A86B576C-AA51-4126-BA56-110C28E4CFD7Q35178659-D4CE0A0A-5DA9-4A28-B3D9-B08497CFEAE4Q35217900-886A0843-9937-4C80-B5E0-FB8E4EAB7F88Q35395372-A7F2141C-0B3E-41E3-A425-F767370C43FBQ35418525-0B0718A7-890E-4E4C-944D-483AA7809187Q35586125-C72E27BD-AB54-4A72-B297-4988067FFECEQ35632216-247CB379-E47B-409E-999B-74B447ACE341Q35747980-07DD9A55-B209-4622-8667-C60617942D89Q35777997-98DF06CC-7ED8-4F77-9796-778E75A8C775Q35788752-B92E85C1-835E-4A48-A727-7DF4081A4AE7Q35822926-3440D711-FF32-4290-BAEF-A63DBC3CF64FQ35879553-7639C839-3DD2-4634-9243-6F8EC8698947
P2860
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
2000年學術文章
@zh
2000年學術文章
@zh-hant
name
Desmin myopathy, a skeletal my ...... mutations in the desmin gene.
@en
type
label
Desmin myopathy, a skeletal my ...... mutations in the desmin gene.
@en
prefLabel
Desmin myopathy, a skeletal my ...... mutations in the desmin gene.
@en
P2093
P1476
Desmin myopathy, a skeletal my ...... mutations in the desmin gene.
@en
P2093
P304
P356
10.1056/NEJM200003163421104
P407
P577
2000-03-01T00:00:00Z