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References

These sources were used to develop the Genetics Home Reference gene summary on the MID1 gene.

Cainarca S, Messali S, Ballabio A, Meroni G. Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Hum Mol Genet. 1999 Aug;8(8):1387-96. PubMed citation
De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A. 2003 Jul 15;120A(2):222-8. Review. PubMed citation
Entrez Gene
Ferrentino R, Bassi MT, Chitayat D, Tabolacci E, Meroni G. MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. Hum Mutat. 2007 Feb;28(2):206-7. PubMed citation
Liu J, Prickett TD, Elliott E, Meroni G, Brautigan DL. Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. Proc Natl Acad Sci U S A. 2001 Jun 5;98(12):6650-5. Epub 2001 May 22. PubMed citation
Mnayer L, Khuri S, Merheby HA, Meroni G, Elsas LJ. A structure-function study of MID1 mutations associated with a mild Opitz phenotype. Mol Genet Metab. 2006 Mar;87(3):198-203. PubMed citation
OMIM: MIDLINE 1
Pinson L, Augé J, Audollent S, Mattéi G, Etchevers H, Gigarel N, Razavi F, Lacombe D, Odent S, Le Merrer M, Amiel J, Munnich A, Meroni G, Lyonnet S, Vekemans M, Attié-Bitach T. Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. J Med Genet. 2004 May;41(5):381-6. PubMed citation
Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet. 1997 Nov;17(3):285-91. PubMed citation
Schweiger S, Schneider R. The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome. Bioessays. 2003 Apr;25(4):356-66. Review. PubMed citation
Trockenbacher A, Suckow V, Foerster J, Winter J, Krauss S, Ropers HH, Schneider R, Schweiger S. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Genet. 2001 Nov;29(3):287-94. Erratum in: Nat Genet 2002 Jan;30(1):123. PubMed citation


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