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1998
2024

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1998 3
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2024 0

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PubMed (cited) for id: 606382

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Page 1
MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
Bierzynska A, Soderquest K, Dean P, Colby E, Rollason R, Jones C, Inward CD, McCarthy HJ, Simpson MA, Lord GM, Williams M, Welsh GI, Koziell AB, Saleem MA; NephroS; UK study of Nephrotic Syndrome. Bierzynska A, et al. J Am Soc Nephrol. 2017 May;28(5):1614-1621. doi: 10.1681/ASN.2016040387. Epub 2016 Dec 8. J Am Soc Nephrol. 2017. PMID: 27932480 Free PMC article.
MAGI-2 scaffold protein is critical for kidney barrier function.
Balbas MD, Burgess MR, Murali R, Wongvipat J, Skaggs BJ, Mundel P, Weins A, Sawyers CL. Balbas MD, et al. Proc Natl Acad Sci U S A. 2014 Oct 14;111(41):14876-81. doi: 10.1073/pnas.1417297111. Epub 2014 Sep 30. Proc Natl Acad Sci U S A. 2014. PMID: 25271328 Free PMC article.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. Marshall CR, et al. Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18565486 Free PMC article.
14 results