Aksentijevich I - Search Results

1

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.

Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, Liu L, Stoffels M, Kratina T, Lawlor KE, Zaal KJM, Hoffmann PM, Etemadi N, Shield-Artin K, Biben C, Tsai WL, Blake MD, Kuehn HS, Yang D, Anderton H, Silke N, Wachsmuth L, Zheng L, Moura NS, Beck DB, Gutierrez-Cruz G, Ombrello AK, Pinto-Patarroyo GP, Kueh AJ, Herold MJ, Hall C, Wang H, Chae JJ, Dmitrieva NI, McKenzie M, Light A, Barham BK, Jones A, Romeo TM, Zhou Q, Aksentijevich I, Mullikin JC, Gross AJ, Shum AK, Hawkins ED, Masters SL, Lenardo MJ, Boehm M, Rosenzweig SD, Pasparakis M, Voss AK, Gadina M, Kastner DL, Silke J. Lalaoui N, et al. Among authors: aksentijevich i. Nature. 2020 Jan;577(7788):103-108. doi: 10.1038/s41586-019-1828-5. Epub 2019 Dec 11. Nature. 2020. PMID: 31827281 Free PMC article.

2

The gene causing familial Mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families.

Pras E, Aksentijevich I, Levy E, Gruberg L, Prosen L, Dean M, Pras M, Kastner DL. Pras E, et al. Among authors: aksentijevich i. Hum Genet. 1994 Nov;94(5):576-7. doi: 10.1007/BF00211032. Hum Genet. 1994. PMID: 7959700 No abstract available.

3

Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error?

Aksentijevich I, Gruberg L, Pras E, Balow JE Jr, Kovo M, Gazit E, Dean M, Pras M, Kastner DL. Aksentijevich I, et al. Hum Genet. 1993 Jul;91(6):527-34. doi: 10.1007/BF00205075. Hum Genet. 1993. PMID: 8340105

4

Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health.

Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, Kastner DL. Samuels J, et al. Among authors: aksentijevich i. Medicine (Baltimore). 1998 Jul;77(4):268-97. doi: 10.1097/00005792-199807000-00005. Medicine (Baltimore). 1998. PMID: 9715731 Free article. Review.

5

The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases.

Centola M, Aksentijevich I, Kastner DL. Centola M, et al. Among authors: aksentijevich i. Hum Mol Genet. 1998;7(10):1581-8. doi: 10.1093/hmg/7.10.1581. Hum Mol Genet. 1998. PMID: 9735379 Review.

6

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL. Aksentijevich I, et al. Am J Hum Genet. 1999 Apr;64(4):949-62. doi: 10.1086/302327. Am J Hum Genet. 1999. PMID: 10090880 Free PMC article.

7

Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean fever.

Chae JJ, Centola M, Aksentijevich I, Dutra A, Tran M, Wood G, Nagaraju K, Kingma DW, Liu PP, Kastner DL. Chae JJ, et al. Among authors: aksentijevich i. Mamm Genome. 2000 Jun;11(6):428-35. doi: 10.1007/s003350010082. Mamm Genome. 2000. PMID: 10818206

8

TNFRSF1A mutations and autoinflammatory syndromes.

Galon J, Aksentijevich I, McDermott MF, O'Shea JJ, Kastner DL. Galon J, et al. Among authors: aksentijevich i. Curr Opin Immunol. 2000 Aug;12(4):479-86. doi: 10.1016/s0952-7915(00)00124-2. Curr Opin Immunol. 2000. PMID: 10899034 Review.

9

Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations.

Toro JR, Aksentijevich I, Hull K, Dean J, Kastner DL. Toro JR, et al. Among authors: aksentijevich i. Arch Dermatol. 2000 Dec;136(12):1487-94. doi: 10.1001/archderm.136.12.1487. Arch Dermatol. 2000. PMID: 11115159

10

Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states.

Schaner P, Richards N, Wadhwa A, Aksentijevich I, Kastner D, Tucker P, Gumucio D. Schaner P, et al. Among authors: aksentijevich i. Nat Genet. 2001 Mar;27(3):318-21. doi: 10.1038/85893. Nat Genet. 2001. PMID: 11242116

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