Dystrophin (DMD)


CMD3B; Muscular Dystrophy,Duchenne And Becker Types

Dystrophin (DMD)

Organism species: Homo sapiens (Human)

Proteins RPB503Hu01 Recombinant Dystrophin (DMD) Positive Control; Immunogen; SDS-PAGE; WB.
RPB503Hu02 Recombinant Dystrophin (DMD) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB503Hu01 Polyclonal Antibody to Dystrophin (DMD) WB; IHC; ICC; IP.
MAB503Hu22 Monoclonal Antibody to Dystrophin (DMD) WB; IHC; ICC; IP.
Assay Kits SEB503Hu ELISA Kit for Dystrophin (DMD) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

Proteins RPB503Mu01 Recombinant Dystrophin (DMD) Positive Control; Immunogen; SDS-PAGE; WB.
RPB503Mu02 Recombinant Dystrophin (DMD) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB503Mu01 Polyclonal Antibody to Dystrophin (DMD) WB; IHC; ICC; IP.
PAB503Mu02 Polyclonal Antibody to Dystrophin (DMD) WB; IHC; ICC; IP.
Assay Kits SEB503Mu ELISA Kit for Dystrophin (DMD) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

Proteins n/a Recombinant Dystrophin (DMD) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Dystrophin (DMD) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Dystrophin (DMD) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Dystrophin (DMD) CLIA Kit Customized Service Offer
n/a ELISA Kit for Dystrophin (DMD) ELISA Kit Customized Service Offer
  1. "The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein."Cell 53:219-228(1988) [PubMed] [Europe PMC] [Abstract]
  2. "Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous."Nucleic Acids Res. 17:5391-5391(1989) [PubMed] [Europe PMC] [Abstract]
  3. "A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues."Proc. Natl. Acad. Sci. U.S.A. 89:5346-5350(1992) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals."Cell 50:509-517(1987) [PubMed] [Europe PMC] [Abstract]
  7. "Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus."Nature 338:509-511(1989) [PubMed] [Europe PMC] [Abstract]
  8. "Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients."EMBO J. 6:3277-3283(1987) [PubMed] [Europe PMC] [Abstract]
  9. "Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification."Nucleic Acids Res. 16:11141-11156(1988) [PubMed] [Europe PMC] [Abstract]
  10. "High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization."Nucleic Acids Res. 17:5611-5621(1989) [PubMed] [Europe PMC] [Abstract]
  11. "Cloning and characterization of alternatively spliced isoforms of Dp71."Hum. Mol. Genet. 4:1475-1483(1995) [PubMed] [Europe PMC] [Abstract]
  12. "Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility."J. Biol. Chem. 265:4560-4566(1990) [PubMed] [Europe PMC] [Abstract]
  13. "Identification and characterization of the dystrophin anchoring site on beta-dystroglycan."J. Biol. Chem. 270:27305-27310(1995) [PubMed] [Europe PMC] [Abstract]
  14. "Syntrophin binds to an alternatively spliced exon of dystrophin."J. Cell Biol. 128:363-371(1995) [PubMed] [Europe PMC] [Abstract]
  15. "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives."J. Biol. Chem. 271:2724-2730(1996) [PubMed] [Europe PMC] [Abstract]
  16. "A splice variant of Dp71 lacking the syntrophin binding site is expressed in early stages of human neural development."Brain Res. Dev. Brain Res. 103:77-82(1997) [PubMed] [Europe PMC] [Abstract]
  17. "Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells."J. Biol. Chem. 275:15851-15860(2000) [PubMed] [Europe PMC] [Abstract]
  18. "Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain."Neuromuscul. Disord. 10:187-193(2000) [PubMed] [Europe PMC] [Abstract]
  19. "The interaction of dystrophin with beta-dystroglycan is regulated by tyrosine phosphorylation."Cell. Signal. 13:625-632(2001) [PubMed] [Europe PMC] [Abstract]
  20. "Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19."Mol. Biol. Cell 16:4280-4293(2005) [PubMed] [Europe PMC] [Abstract]
  21. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  22. "Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue."Cell. Mol. Life Sci. 63:1614-1631(2006) [PubMed] [Europe PMC] [Abstract]
  23. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  24. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  25. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  26. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  27. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  28. "Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan."Nat. Struct. Biol. 7:634-638(2000) [PubMed] [Europe PMC] [Abstract]
  29. "The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy."Structure 8:481-491(2000) [PubMed] [Europe PMC] [Abstract]
  30. "Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations."Hum. Mutat. 4:1-11(1994) [PubMed] [Europe PMC] [Abstract]
  31. "Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene."Hum. Genet. 94:111-116(1994) [PubMed] [Europe PMC] [Abstract]
  32. "A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient."Nat. Genet. 4:357-360(1993) [PubMed] [Europe PMC] [Abstract]
  33. "Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16."Hum. Mol. Genet. 3:1173-1174(1994) [PubMed] [Europe PMC] [Abstract]
  34. "Novel small mutations along the DMD/BMD gene associated with different phenotypes."Hum. Mol. Genet. 3:1907-1908(1994) [PubMed] [Europe PMC] [Abstract]
  35. "A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave."Hum. Mol. Genet. 5:973-975(1996) [PubMed] [Europe PMC] [Abstract]
  36. "Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy."Circulation 95:2434-2440(1997) [PubMed] [Europe PMC] [Abstract]
  37. "A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype."Ann. Neurol. 44:971-976(1998) [PubMed] [Europe PMC] [Abstract]
  38. "Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)."Eur. J. Hum. Genet. 7:765-770(1999) [PubMed] [Europe PMC] [Abstract]
  39. "Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy."J. Am. Coll. Cardiol. 40:1120-1124(2002) [PubMed] [Europe PMC] [Abstract]
  40. "Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy."Mol. Genet. Metab. 77:119-126(2002) [PubMed] [Europe PMC] [Abstract]
  41. "Rapid direct sequence analysis of the dystrophin gene."Am. J. Hum. Genet. 72:931-939(2003) [PubMed] [Europe PMC] [Abstract]
  42. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  43. "Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing."BMC Med. Genet. 12:37-37(2011) [PubMed] [Europe PMC] [Abstract]
  44. "The ZZ domain of dystrophin in DMD: making sense of missense mutations."Hum. Mutat. 35:257-264(2014) [PubMed] [Europe PMC] [Abstract]
  45. "Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function."PLoS ONE 9:E110439-E110439(2014) [PubMed] [Europe PMC] [Abstract]