PAX1
PAX1 (Paired box 1) هوَ بروتين يُشَفر بواسطة جين PAX1 في الإنسان.[1][2]
الوظيفة
المراجع
- "Entrez Gene: PAX1 paired box gene 1". مؤرشف من الأصل في 2010-12-05.
- Schnittger S، Rao VV، Deutsch U، Gruss P، Balling R، Hansmann I (ديسمبر 1992). "Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH)". Genomics. ج. 14 ع. 3: 740–4. DOI:10.1016/S0888-7543(05)80177-6. PMID:1358810.
قراءة متعمقة
- Bannykh SI، Emery SC، Gerber JK، وآخرون (2004). "Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review". Am. J. Med. Genet. A. ج. 120 ع. 2: 241–6. DOI:10.1002/ajmg.a.20192. PMID:12833407.
- Burri M، Tromvoukis Y، Bopp D، وآخرون (1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. ج. 8 ع. 4: 1183–90. PMC:400932. PMID:2501086.
- Smith CA، Tuan RS (1994). "Human PAX gene expression and development of the vertebral column". Clin. Orthop. Relat. Res. ع. 302: 241–50. PMID:7909508.
- Stapleton P، Weith A، Urbánek P، وآخرون (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat. Genet. ج. 3 ع. 4: 292–8. DOI:10.1038/ng0493-292. PMID:7981748.
- Hol FA، Geurds MP، Chatkupt S، وآخرون (1996). "PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida". J. Med. Genet. ج. 33 ع. 8: 655–60. DOI:10.1136/jmg.33.8.655. PMC:1050699. PMID:8863157.
- Wilm B، Dahl E، Peters H، وآخرون (1998). "Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency". Proc. Natl. Acad. Sci. U.S.A. ج. 95 ع. 15: 8692–7. DOI:10.1073/pnas.95.15.8692. PMC:21138. PMID:9671740.
- Stamataki D، Kastrinaki M، Mankoo BS، وآخرون (2001). "Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors". FEBS Lett. ج. 499 ع. 3: 274–8. DOI:10.1016/S0014-5793(01)02556-X. PMID:11423130.
- Deloukas P، Matthews LH، Ashurst J، وآخرون (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. ج. 414 ع. 6866: 865–71. DOI:10.1038/414865a. PMID:11780052.
- 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.
- Eraly SA، Hamilton BA، Nigam SK (2003). "Organic anion and cation transporters occur in pairs of similar and similarly expressed genes". Biochem. Biophys. Res. Commun. ج. 300 ع. 2: 333–42. DOI:10.1016/S0006-291X(02)02853-X. PMID:12504088.
- McGaughran JM، Oates A، Donnai D، وآخرون (2004). "Mutations in PAX1 may be associated with Klippel-Feil syndrome". Eur. J. Hum. Genet. ج. 11 ع. 6: 468–74. DOI:10.1038/sj.ejhg.5200987. PMID:12774041.
- Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
- Giampietro PF، Raggio CL، Reynolds CE، وآخرون (2005). "An analysis of PAX1 in the development of vertebral malformations". Clin. Genet. ج. 68 ع. 5: 448–53. DOI:10.1111/j.1399-0004.2005.00520.x. PMID:16207213.
بوابة طب
بوابة الكيمياء الحيوية
بوابة علم الأحياء الخلوي والجزيئي
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