Property Summary

NCBI Gene PubMed Count 109
Grant Count 34
R01 Count 8
Funding $3,232,982.62
PubMed Score 32.67
PubTator Score 2135.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis -2.300 0.000
primary pancreatic ductal adenocarcinoma -1.154 0.022
non-small cell lung cancer -1.583 0.000
colon cancer -2.900 0.000
lung adenocarcinoma -3.500 0.000
lung carcinoma -1.500 0.000
pancreatic cancer -1.200 0.015

Gene RIF (76)

PMID Text
25732530 Increasing desmin abnormalities were correlated with diastolic dysfunction progression.
25680090 The desmin intermediate filament network plays a major role in striated muscle development and maintenance by integrating and coordinating most cellular components necessary for proper mechanochemical signaling, organelle cross-talk, energy production and trafficking processes required for proper tissue homeostasis. [Review]
25575565 identified disruption of the desmin system in gastrocnemius myofibers as an index of the myopathy and limitation of muscle function in patients with peripheral artery disease.
25541946 Results propose that the mutations affect desmin structure and cause its aberrant folding and subsequent aggregation, triggering disruption of myofibrils organization.
25394388 expression level of mutant versus wild-type desmin in mouse model as well as in skeletal muscle specimens derived from human R350P desminopathies; findings demonstrate missense-mutant desmin inflicts changes of the subcellular localization and turnover of desmin itself and of direct desmin-binding partners
24441330 we describe a new mutation located in the coiled 1B domain of desmin and associated with a predominant cardiac involvement and a high degree of cardiac sudden death in a large Indian pedigree with 12 affected members
24200904 Data suggest that loss of the desmin-p. A120D filament localization at the intercalated disk indicates its clinical arrhythmogenic potential.
23713052 Perfomed proteomic analysis on a transgenic mouse model of severe cardiac hypertrophy; compared data to dataset of heart failure found MYH7, IGFBP7, ANXA2, and DESM to be biomarker candidates for heart failure.
23687351 autosomal recessive mutations in DES cause LGMD2 phenotype without features of myofibrillar myopathy.
23615443 Data suggest that for some filament-forming desmin mutants, the molecular etiology of desminopathy results from subtle deficiencies in their association with nebulin, a major actin-binding filament protein of striated muscle.
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AA Sequence

MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLR      1 - 70
ASRLGTTRTPSSYGAGELLDFSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEV     71 - 140
NRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVERDNLLDDLQRLKAKLQEEIQLKEEAENNLAA    141 - 210
FRADVDAATLARIDLERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDLTAALRDIRAQ    211 - 280
YETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMR    281 - 350
ELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRINLPI    351 - 420
QTYSALNFRETSPEQRGSEVHTKKTVMIKTIETRDGEVVSEATQQQHEVL                        421 - 470
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Publication (122)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
26816005 2016 Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation.
26724190 2016 Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
25732530 2015 Changes in desmin expression in patients with cardiac diastolic dysfunction and preserved or reduced ejection fraction.
25680090 2015 Desmin related disease: a matter of cell survival failure.
25575565 2015 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.
25541946 2014 Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
25416956 2014 A proteome-scale map of the human interactome network.
25394388 2015 The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
24441330 New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.
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