Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
about
Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4The nuclear envelopathies and human diseasesA novel role for the nuclear membrane protein emerin in association of the centrosome to the outer nuclear membraneNesprin-1alpha self-associates and binds directly to emerin and lamin A in vitroOverlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiationMany roads lead to a broken heart: the genetics of dilated cardiomyopathy.Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathyMandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CA novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndromeHomozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouseLamin A/C truncation in dilated cardiomyopathy with conduction diseaseExpression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutationSkeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesWhen lamins go bad: nuclear structure and diseaseThe nuclear envelope: an intriguing focal point for neurogenetic diseaseLinker of nucleoskeleton and cytoskeleton (LINC) complex-mediated actin-dependent nuclear positioning orients centrosomes in migrating myoblasts.Structure of the globular tail of nuclear laminRegulation of nucleocytoplasmic transport in skeletal muscle.The cell biology of agingThe nuclear envelope in muscular dystrophy and cardiovascular diseasesLife at the edge: the nuclear envelope and human diseaseIdentification of a novel muscle A-type lamin-interacting protein (MLIP)Inherited conduction system abnormalities--one group of diseases, many genesLaminopathies and the long strange trip from basic cell biology to therapyMuscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organizationDefects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient miceNET37, a nuclear envelope transmembrane protein with glycosidase homology, is involved in myoblast differentiationAutosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations.Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease.Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Diseases of the nuclear envelope.The posttranslational processing of prelamin A and disease.Uncoordinated transcription and compromised muscle function in the lmna-null mouse model of Emery- Emery-Dreyfuss muscular dystrophy.An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria.Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene
P2860
Q21093385-8D17BB7D-FF17-4ADD-B23C-702D96AA82C6Q21284427-4B75E7AF-D530-4ADF-9AF0-9D618BEB4AEAQ24292716-FA2AA1FB-DD06-4E4E-AC18-C1874538D838Q24303760-655D07B2-654D-4F1F-A1F6-95114C9CC806Q24311440-D0491F5B-42C9-491F-99F1-E62C1A7066B8Q24535744-62CC1495-FA28-463E-8094-98566FF985ABQ24546392-18428F7F-8D1C-4EA6-815A-7A4CFC0C7D76Q24604161-98C0D772-F814-41A1-9D27-296AC49818DAQ24612380-1DCB2742-736D-48BB-885C-9AB9B8ED307EQ24627210-85730450-46B3-40EB-9F26-9D04A9959615Q24632769-26A6AE92-1106-4860-918E-824101645424Q24792170-6E87D81A-80BA-4AC5-81E8-8D3FFFCB62DAQ24798448-FB8AE5F0-8D3B-49DD-BAE2-FA75C678D256Q26741163-4BACA6E0-250C-440B-8384-2FCD9DE64BEAQ26827624-D8BF41BF-8503-4CFA-81AA-CE83339DCC60Q27006719-778D758F-6A25-4E9F-9182-AAA7ABD1A5E5Q27311126-33635EFD-EBF6-48D1-AFF5-585F51A1950AQ27638385-0B0A9ADF-C8A9-487C-961C-CA97D5C5DB30Q27693239-68198A80-3993-44FB-8EC6-A885AC7C7E27Q28088735-B9A84642-91A0-45BC-852C-F3245D316D64Q28189195-E2B600C8-2C2A-4088-8474-30C5278B9827Q28216767-32A96B14-3062-4001-A312-FDE3243FD5CAQ28235710-B726F406-84C8-45AE-B864-81A9B8B0D842Q28236888-0DF30373-32C0-4961-983A-229282A6C971Q28251294-56E384B4-FBF0-49A8-99F3-DB8A53AF45DBQ28542922-6C85C75F-140A-4F76-AC7C-722DD19179ECQ28591672-FAE871E9-63A3-43FD-8568-599F8AF757AFQ28594645-C1895C46-CFA1-480E-92D1-18E3F325A016Q30438210-8B60FD1B-6CEE-443B-B413-949EF8448238Q30498672-8C5804DA-2D35-4607-93FD-997D08E5FB71Q33480945-906484FD-868B-46ED-ADDE-7F9E12138BCCQ33551452-D8611AD2-3338-47C1-AC40-D3997C12817DQ33581928-2B83A768-BCF9-4678-8122-DB20002B73E1Q33599572-C9812D4F-37B1-4D3C-A1B3-6A5B670159D8Q33608787-2994A432-A69D-47BE-A090-E00340A14EE8Q33687043-B7C7EC54-63B0-4241-8534-1B6B0BFB2404Q33758494-6A051A15-36C6-4F67-99D0-002DF4BD259DQ33834124-8A6D513A-C8B1-4397-9D28-6AF2F6C334CBQ33904465-1CDED9CD-0E02-48BE-805D-3D59F47138CBQ33945740-C99E5F2C-6105-412D-BD27-4A5D0925F189
P2860
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
description
2000 nî lūn-bûn
@nan
2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Identification of mutations in ...... nduction disturbances (LGMD1B)
@ast
Identification of mutations in ...... nduction disturbances (LGMD1B)
@en
Identification of mutations in ...... nduction disturbances (LGMD1B)
@nl
type
label
Identification of mutations in ...... nduction disturbances (LGMD1B)
@ast
Identification of mutations in ...... nduction disturbances (LGMD1B)
@en
Identification of mutations in ...... nduction disturbances (LGMD1B)
@nl
prefLabel
Identification of mutations in ...... nduction disturbances (LGMD1B)
@ast
Identification of mutations in ...... nduction disturbances (LGMD1B)
@en
Identification of mutations in ...... nduction disturbances (LGMD1B)
@nl
P2093
P3181
P356
P1476
Identification of mutations in ...... nduction disturbances (LGMD1B)
@en
P2093
A J van der Kooi
K Schwartz
M de Visser
M van Meegen
P A Bolhuis
P304
P3181
P356
10.1093/HMG/9.9.1453
P407
P577
2000-05-01T00:00:00Z