PubMed (OMIM) for id: 100506658

Year	Number of Results
1983	1
1985	1
1986	1
1994	1
1996	1
1997	1
1999	1
2000	2
2002	2
2003	1
2005	1
2008	2
2009	3
2010	2
2013	1
2024	0

1

A novel rearrangement of occludin causes brain calcification and renal dysfunction.

LeBlanc MA, Penney LS, Gaston D, Shi Y, Aberg E, Nightingale M, Jiang H, Gillett RM, Fahiminiya S, Macgillivray C, Wood EP, Acott PD, Khan MN, Samuels ME, Majewski J, Orr A, McMaster CR, Bedard K. LeBlanc MA, et al. Hum Genet. 2013 Nov;132(11):1223-34. doi: 10.1007/s00439-013-1327-y. Epub 2013 Jun 21. Hum Genet. 2013. PMID: 23793442

2

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ. O'Driscoll MC, et al. Am J Hum Genet. 2010 Sep 10;87(3):354-64. doi: 10.1016/j.ajhg.2010.07.012. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727516 Free PMC article.

3

The tight junction protein, occludin, regulates the directional migration of epithelial cells.

Du D, Xu F, Yu L, Zhang C, Lu X, Yuan H, Huang Q, Zhang F, Bao H, Jia L, Wu X, Zhu X, Zhang X, Zhang Z, Chen Z. Du D, et al. Dev Cell. 2010 Jan 19;18(1):52-63. doi: 10.1016/j.devcel.2009.12.008. Dev Cell. 2010. PMID: 20152177 Free article.

4

Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: a distinctive form of congenital infection like syndromes.

Abdel-Salam GM, Zaki MS. Abdel-Salam GM, et al. Am J Med Genet A. 2009 Jul;149A(7):1565-8. doi: 10.1002/ajmg.a.32894. Am J Med Genet A. 2009. PMID: 19530192 No abstract available.

5

Human occludin is a hepatitis C virus entry factor required for infection of mouse cells.

Ploss A, Evans MJ, Gaysinskaya VA, Panis M, You H, de Jong YP, Rice CM. Ploss A, et al. Nature. 2009 Feb 12;457(7231):882-6. doi: 10.1038/nature07684. Epub 2009 Jan 28. Nature. 2009. PMID: 19182773 Free PMC article.

6

VEGF-mediated disruption of endothelial CLN-5 promotes blood-brain barrier breakdown.

Argaw AT, Gurfein BT, Zhang Y, Zameer A, John GR. Argaw AT, et al. Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1977-82. doi: 10.1073/pnas.0808698106. Epub 2009 Jan 27. Proc Natl Acad Sci U S A. 2009. PMID: 19174516 Free PMC article.

7

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ. Briggs TA, et al. Am J Med Genet A. 2008 Dec 15;146A(24):3173-80. doi: 10.1002/ajmg.a.32614. Am J Med Genet A. 2008. PMID: 19012351

8

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

Abdel-Salam GM, Zaki MS, Saleem SN, Gaber KR. Abdel-Salam GM, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2929-36. doi: 10.1002/ajmg.a.32549. Am J Med Genet A. 2008. PMID: 18925673

9

High-throughput mapping of a dynamic signaling network in mammalian cells.

Barrios-Rodiles M, Brown KR, Ozdamar B, Bose R, Liu Z, Donovan RS, Shinjo F, Liu Y, Dembowy J, Taylor IW, Luga V, Przulj N, Robinson M, Suzuki H, Hayashizaki Y, Jurisica I, Wrana JL. Barrios-Rodiles M, et al. Science. 2005 Mar 11;307(5715):1621-5. doi: 10.1126/science.1105776. Science. 2005. PMID: 15761153

10

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB, Woods CG, Lebon P. Crow YJ, et al. J Med Genet. 2003 Mar;40(3):183-7. doi: 10.1136/jmg.40.3.183. J Med Genet. 2003. PMID: 12624136 Free PMC article.

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