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Skeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesChromatin states and nuclear organization in development--a view from the nuclear laminaClinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathyDeletion of MLIP (muscle-enriched A-type lamin-interacting protein) leads to cardiac hyperactivation of Akt/mammalian target of rapamycin (mTOR) and impaired cardiac adaptationSevere dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 DiabetesClinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome.DNA repair defects and genome instability in Hutchinson-Gilford Progeria Syndrome.Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studiesMutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterationsSubcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy.Altering lamina assembly reveals lamina-dependent and -independent functions for A-type lamins.Lamins in development, tissue maintenance and stress.Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.Lamin aggregation is an early sensor of porphyria-induced liver injuryThe expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling.The LINC complex and human disease.Splicing modulation therapy in the treatment of genetic diseases.A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome.What Should the Cardiologist know about Lamin Disease?Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations.Global transcriptional changes caused by an EDMD mutation correlate to tissue specific disease phenotypes in C. elegans.Cellular strain avoidance is mediated by a functional actin cap - observations in an Lmna-deficient cell model.Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.Causes and consequences of genomic instability in laminopathies: replication stress and interferon response.SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells.Exploring the Crosstalk Between and Splicing Machinery Gene Mutations in Dilated CardiomyopathyModeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic MutationsNesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles
P2860
Q26741163-484407D1-61EE-4064-BD34-AA6FB32043EAQ26798007-32301805-5CCD-40D6-9C8B-016617FE20BDQ27310698-3897E2E9-8F83-4B03-A806-2C840D68A5C0Q28267272-3ABFB942-09D3-42E9-8F64-B15CDFBD15D9Q30617405-41460397-C1EF-45FD-B4D9-396B3F6FF0DBQ33416599-C51FBCE0-BE91-4167-927A-126985E41BF1Q33799816-FD30B984-E097-4521-9135-B6938C79C7ABQ34033699-17500701-A125-4AFE-A1B3-2017E7BF0C12Q34480944-C8C469E9-EB6C-4518-B923-7E9D6B7AA7F2Q34685919-6056444D-6BA2-4B99-B43D-31D3DFF97B78Q34736236-3F45EAE9-2B5B-4BA2-8A89-4D7CDFAC94ADQ34972521-91E4032C-174A-4FEA-BE91-210F5DD3A383Q35830385-D75EE2FC-A320-4C12-A712-9ADBA098468FQ36175286-2045B0B5-34D6-494B-B917-694F29662E41Q36440522-7E9BDEA9-E1E7-42D8-B31A-2BDC50D716F4Q36789599-36F2CCA1-D5D5-4E6D-9CD2-26C9A26D9990Q36856331-F70BDE3E-630A-4AD7-856A-FE55472109C8Q37012014-96824AD7-46E3-4571-8AB8-DBE86EC5DAB3Q37370789-623ADF04-8C94-47D7-BD24-388918441643Q37958956-0732F7B2-5032-47F7-BBD8-B07CA0A59A14Q38288237-C54EF606-8162-4C3E-87B3-8196B18E158FQ38492694-DF047F64-D4A8-4CE5-A259-8BD3B9B40AC7Q38719212-370F0466-0777-4320-826E-932F86589685Q41374034-322D829B-1291-4245-A67B-D959E2EC8F9FQ41686906-43F80B2D-BD33-40CB-B7A1-FF108DFB66C7Q42503937-CB3261EC-37F9-4327-B8FE-58DDCCEC2DF4Q47598132-6B6184EF-78E6-41EB-8A7D-066DCBC39947Q50310625-C5E5B9BA-06D4-4C63-B0D7-2204F5A2E9BCQ51745116-4BC11D7A-1894-447B-8DEE-B093A67E960EQ52720096-E880E58E-E047-4A0F-A3E8-6508B48B9CE5Q55400232-5E9E17F3-F479-4AB7-AB62-750280C661DDQ57646299-6CF0AA8B-3B18-4BFA-A651-7CEACFE04F80Q58562640-950767D0-98F6-43F0-973C-AAF1A616E05DQ58758731-A83D6126-415D-4BDF-BFB7-3FD9B6C1CFE4
P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Clinical and genetic heterogeneity in laminopathies.
@en
Clinical and genetic heterogeneity in laminopathies.
@nl
type
label
Clinical and genetic heterogeneity in laminopathies.
@en
Clinical and genetic heterogeneity in laminopathies.
@nl
prefLabel
Clinical and genetic heterogeneity in laminopathies.
@en
Clinical and genetic heterogeneity in laminopathies.
@nl
P2860
P356
P1476
Clinical and genetic heterogeneity in laminopathies
@en
P2093
Khadija Chikhaoui
Rabah Ben Yaou
P2860
P304
P356
10.1042/BST20110670
P577
2011-12-01T00:00:00Z