FERMT1
FERMT1 (Fermitin family member 1) هوَ بروتين يُشَفر بواسطة جين FERMT1 في الإنسان.[1][2][3]
الوظيفة
المراجع
- Siegel DH، Ashton GH، Penagos HG، Lee JV، Feiler HS، Wilhelmsen KC، South AP، Smith FJ، Prescott AR، Wessagowit V، Oyama N، Akiyama M، Al Aboud D، Al Aboud K، Al Githami A، Al Hawsawi K، Al Ismaily A، Al-Suwaid R، Atherton DJ، Caputo R، Fine JD، Frieden IJ، Fuchs E، Haber RM، Harada T، Kitajima Y، Mallory SB، Ogawa H، Sahin S، Shimizu H، Suga Y، Tadini G، Tsuchiya K، Wiebe CB، Wojnarowska F، Zaghloul AB، Hamada T، Mallipeddi R، Eady RA، McLean WH، McGrath JA، Epstein EH (يونيو 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. ج. 73 ع. 1: 174–87. DOI:10.1086/376609. PMC:1180579. PMID:12789646.
- "Entrez Gene: C20orf42 chromosome 20 open reading frame 42". مؤرشف من الأصل في 2010-12-05.
- Weinstein EJ، Bourner M، Head R، Zakeri H، Bauer C، Mazzarella R (أبريل 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. ج. 1637 ع. 3: 207–16. DOI:10.1016/S0925-4439(03)00035-8. PMID:12697302.
قراءة متعمقة
- White SJ، McLean WH (2005). "Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome". J. Dermatol. Sci. ج. 38 ع. 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. ج. 138 ع. 1–2: 171–4. DOI:10.1016/0378-1119(94)90802-8. PMID:8125298.
- Suzuki Y، Yoshitomo-Nakagawa K، Maruyama K، وآخرون (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. ج. 200 ع. 1–2: 149–56. DOI:10.1016/S0378-1119(97)00411-3. PMID:9373149.
- Wang HY، Lin W، Dyck JA، وآخرون (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. ج. 140 ع. 4: 737–50. DOI:10.1083/jcb.140.4.737. PMC:2141757. PMID:9472028.
- Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
- Jobard F، Bouadjar B، Caux F، وآخرون (2004). "Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome". Hum. Mol. Genet. ج. 12 ع. 8: 925–35. DOI:10.1093/hmg/ddg097. PMID:12668616.
- Kloeker S، Major MB، Calderwood DA، وآخرون (2004). "The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion". J. Biol. Chem. ج. 279 ع. 8: 6824–33. DOI:10.1074/jbc.M307978200. PMID:14634021.
- Ota T، Suzuki Y، Nishikawa T، وآخرون (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. ج. 36 ع. 1: 40–5. DOI:10.1038/ng1285. PMID:14702039.
- Ashton GH، McLean WH، South AP، وآخرون (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. ج. 122 ع. 1: 78–83. DOI:10.1046/j.0022-202X.2003.22136.x. PMID:14962093.
- Fassihi H، Wessagowit V، Jones C، وآخرون (2005). "Neonatal diagnosis of Kindler syndrome". J. Dermatol. Sci. ج. 39 ع. 3: 183–5. DOI:10.1016/j.jdermsci.2005.05.007. PMID:16051467.
- Has C، Wessagowit V، Pascucci M، وآخرون (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. ج. 126 ع. 8: 1776–83. DOI:10.1038/sj.jid.5700339. PMID:16675959.
- Herz C، Aumailley M، Schulte C، وآخرون (2007). "Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes". J. Biol. Chem. ج. 281 ع. 47: 36082–90. DOI:10.1074/jbc.M606259200. PMID:17012746.
- Sadler E، Klausegger A، Muss W، وآخرون (2007). "Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement". Archives of Dermatology. ج. 142 ع. 12: 1619–24. DOI:10.1001/archderm.142.12.1619. PMID:17178989.
- Lai-Cheong JE، Liu L، Sethuraman G، وآخرون (2007). "Five new homozygous mutations in the KIND1 gene in Kindler syndrome". J. Invest. Dermatol. ج. 127 ع. 9: 2268–70. DOI:10.1038/sj.jid.5700830. PMID:17460733.
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