Property Summary

NCBI Gene PubMed Count 125
Grant Count 136
R01 Count 49
Funding $17,775,959.58
PubMed Score 338.98
PubTator Score 344.70

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
Rheumatoid Arthritis 1.300 0.045
osteosarcoma -2.530 0.000
tuberculosis 1.900 0.000
diabetes mellitus -1.400 0.001
interstitial cystitis 1.100 0.000
Breast cancer 1.100 0.007
lung carcinoma -1.200 0.000
mucosa-associated lymphoid tissue lympho... 2.845 0.005

Gene

PDB

4CAH   4CAI   4IHB   4IQH  

Gene RIF (102)

PMID Text
26671124 This study demonstrated that novel mutation of DYSF in patient with Dysferlinopathy in Iran.
26077327 We conclude that two independent mutations in ALMS1 and DYSF cause CRD and muscular dystrophy in the studied consanguineous Israeli Arab family.
25904108 By targeting DYSF premRNA introns harbouring differentially defined 3' splice sites (3' SS), we found that target introns encoding weakly defined 3' SSs were trans-spliced successfully in vitro in human myoblasts also in vivo in skeletal muscle of mice.
25591676 Our study underlines clinical heterogeneity and a high proportion of novel mutations for dysferlin in Chinese patients affected with dysferlinopathy.
25312915 minigene strategy is an efficient tool for the detection of splicing defects in dysferlinopathies, which could allow for a better comprehension of splicing defects due to mutations and could improve prediction tools evaluating splicing defects
24967968 results provide the mechanism for dysferlin-mediated repair of skeletal muscle sarcolemma and identify ASM as a potential therapy for dysferlinopathy
24902367 These data suggest that although dysferlin is not an integral part of the dystrophin-glycoprotein complex, its expression is altered in Duchenne muscular dystrophy.
24838345 Dysferlin carrier frequency and the number of affected individuals at risk for dysferlinopathy could be higher than previously estimated.
24687993 The tricomplex Fam65b-HDAC6-dysferlin is transient.
24685690 These novel observations of conspicuous intermyofibrillar lipid and progressive adipocyte replacement in dysferlin-deficient muscles.
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AA Sequence

MLRVFILYAENVHTPDTDISDAYCSAVFAGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVK      1 - 70
DHETMGRNRFLGEAKVPLREVLATPSLSASFNAPLLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLE     71 - 140
PSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTSR    141 - 210
KLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDE    211 - 280
PIFITVVDSRSLRTDALLGEFRMDVGTIYREPRHAYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEA    281 - 350
PLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPFV    351 - 420
EVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGG    421 - 490
EIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGFPDPYTELNTGKGEGVAYRGRLLLSL    491 - 560
ETKLVEHSEQKVEDLPADDILRVEKYLRRRKYSLFAAFYSATMLQDVDDAIQFEVSIGNYGNKFDMTCLP    561 - 630
LASTTQYSRAVFDGCHYYYLPWGNVKPVVVLSSYWEDISHRIETQNQLLGIADRLEAGLEQVHLALKAQC    631 - 700
STEDVDSLVAQLTDELIAGCSQPLGDIHETPSATHLDQYLYQLRTHHLSQITEAALALKLGHSELPAALE    701 - 770
QAEDWLLRLRALAEEPQNSLPDIVIWMLQGDKRVAYQRVPAHQVLFSRRGANYCGKNCGKLQTIFLKYPM    771 - 840
EKVPGARMPVQIRVKLWFGLSVDEKEFNQFAEGKLSVFAETYENETKLALVGNWGTTGLTYPKFSDVTGK    841 - 910
IKLPKDSFRPSAGWTWAGDWFVCPEKTLLHDMDAGHLSFVEEVFENQTRLPGGQWIYMSDNYTDVNGEKV    911 - 980
LPKDDIECPLGWKWEDEEWSTDLNRAVDEQGWEYSITIPPERKPKHWVPAEKMYYTHRRRRWVRLRRRDL    981 - 1050
SQMEALKRHRQAEAEGEGWEYASLFGWKFHLEYRKTDAFRRRRWRRRMEPLEKTGPAAVFALEGALGGVM   1051 - 1120
DDKSEDSMSVSTLSFGVNRPTISCIFDYGNRYHLRCYMYQARDLAAMDKDSFSDPYAIVSFLHQSQKTVV   1121 - 1190
VKNTLNPTWDQTLIFYEIEIFGEPATVAEQPPSIVVELYDHDTYGADEFMGRCICQPSLERMPRLAWFPL   1191 - 1260
TRGSQPSGELLASFELIQREKPAIHHIPGFEVQETSRILDESEDTDLPYPPPQREANIYMVPQNIKPALQ   1261 - 1330
RTAIEILAWGLRNMKSYQLANISSPSLVVECGGQTVQSCVIRNLRKNPNFDICTLFMEVMLPREELYCPP   1331 - 1400
ITVKVIDNRQFGRRPVVGQCTIRSLESFLCDPYSAESPSPQGGPDDVSLLSPGEDVLIDIDDKEPLIPIQ   1401 - 1470
EEEFIDWWSKFFASIGEREKCGSYLEKDFDTLKVYDTQLENVEAFEGLSDFCNTFKLYRGKTQEETEDPS   1471 - 1540
VIGEFKGLFKIYPLPEDPAIPMPPRQFHQLAAQGPQECLVRIYIVRAFGLQPKDPNGKCDPYIKISIGKK   1541 - 1610
SVSDQDNYIPCTLEPVFGKMFELTCTLPLEKDLKITLYDYDLLSKDEKIGETVVDLENRLLSKFGARCGL   1611 - 1680
PQTYCVSGPNQWRDQLRPSQLLHLFCQQHRVKAPVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERL   1681 - 1750
ALHVLQQQGLVPEHVESRPLYSPLQPDIEQGKLQMWVDLFPKALGRPGPPFNITPRRARRFFLRCIIWNT   1751 - 1820
RDVILDDLSLTGEKMSDIYVKGWMIGFEEHKQKTDVHYRSLGGEGNFNWRFIFPFDYLPAEQVCTIAKKD   1821 - 1890
AFWRLDKTESKIPARVVFQIWDNDKFSFDDFLGSLQLDLNRMPKPAKTAKKCSLDQLDDAFHPEWFVSLF   1891 - 1960
EQKTVKGWWPCVAEEGEKKILAGKLEMTLEIVAESEHEERPAGQGRDEPNMNPKLEDPRRPDTSFLWFTS   1961 - 2030
PYKTMKFILWRRFRWAIILFIILFILLLFLAIFIYAFPNYAAMKLVKPFS                       2031 - 2080
//

Text Mined References (133)

PMID Year Title
26671124 2015 Dysferlinopathy in Iran: Clinical and genetic report.
26077327 2015 Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
25904108 2015 Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites.
25591676 Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
25312915 2014 Identification of splicing defects caused by mutations in the dysferlin gene.
24967968 2014 Dysferlin regulates cell membrane repair by facilitating injury-triggered acid sphingomyelinase secretion.
24902367 2014 Increased dysferlin expression in Duchenne muscular dystrophy.
24838345 2014 Genetic and epigenetic determinants of low dysferlin expression in monocytes.
24687993 2014 Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.
24685690 2014 Lipid accumulation in dysferlin-deficient muscles.
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