C20orf42

Revision as of 14:54, 4 September 2012 by WikiBot (talk | contribs) (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search


Chromosome 20 open reading frame 42
Identifiers
Symbols C20orf42 ; DTGCU2; FLJ20116; FLJ23423; KIND1; URP1
External IDs Template:OMIM5 Template:MGI HomoloGene9773
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Chromosome 20 open reading frame 42, also known as C20orf42, is a human gene.[1]


References

  1. "Entrez Gene: C20orf42 chromosome 20 open reading frame 42".

Further reading

  • White SJ, McLean WH (2005). "Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome". J. Dermatol. Sci. 38 (3): 169–75. doi:10.1016/j.jdermsci.2004.12.026. PMID 15927810.
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
  • Wang HY, Lin W, Dyck JA; et al. (1998). "SRPK2: a differentially expressed SR protein-specific kinase involved in mediating the interaction and localization of pre-mRNA splicing factors in mammalian cells". J. Cell Biol. 140 (4): 737–50. PMID 9472028.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Jobard F, Bouadjar B, Caux F; et al. (2004). "Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome". Hum. Mol. Genet. 12 (8): 925–35. PMID 12668616.
  • Weinstein EJ, Bourner M, Head R; et al. (2003). "URP1: a member of a novel family of PH and FERM domain-containing membrane-associated proteins is significantly over-expressed in lung and colon carcinomas". Biochim. Biophys. Acta. 1637 (3): 207–16. PMID 12697302.
  • Siegel DH, Ashton GH, Penagos HG; et al. (2003). "Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome". Am. J. Hum. Genet. 73 (1): 174–87. PMID 12789646.
  • Kloeker S, Major MB, Calderwood DA; et al. (2004). "The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion". J. Biol. Chem. 279 (8): 6824–33. doi:10.1074/jbc.M307978200. PMID 14634021.
  • Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Ashton GH, McLean WH, South AP; et al. (2004). "Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome". J. Invest. Dermatol. 122 (1): 78–83. doi:10.1046/j.0022-202X.2003.22136.x. PMID 14962093.
  • Fassihi H, Wessagowit V, Jones C; et al. (2005). "Neonatal diagnosis of Kindler syndrome". J. Dermatol. Sci. 39 (3): 183–5. doi:10.1016/j.jdermsci.2005.05.007. PMID 16051467.
  • Has C, Wessagowit V, Pascucci M; et al. (2006). "Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene". J. Invest. Dermatol. 126 (8): 1776–83. doi:10.1038/sj.jid.5700339. PMID 16675959.
  • Herz C, Aumailley M, Schulte C; et al. (2007). "Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes". J. Biol. Chem. 281 (47): 36082–90. doi:10.1074/jbc.M606259200. PMID 17012746.
  • Sadler E, Klausegger A, Muss W; et al. (2007). "Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement". Archives of dermatology. 142 (12): 1619–24. doi:10.1001/archderm.142.12.1619. PMID 17178989.
  • Lai-Cheong JE, Liu L, Sethuraman G; et al. (2007). "Five new homozygous mutations in the KIND1 gene in Kindler syndrome". J. Invest. Dermatol. 127 (9): 2268–70. doi:10.1038/sj.jid.5700830. PMID 17460733.

Template:WikiDoc Sources