Martignetti JA - Search Results

1

The first report of homozygous May-Hegglin anomaly E1841K mutation.

Poopak B, Rezvani H, Difeo A, Martignetti JA, Khosravipour G, Yousefian A, Farahani K, Haghnejad Doshanlo F, Saki N. Poopak B, et al. Among authors: martignetti ja. Eur J Haematol. 2011 Apr;86(4):357. doi: 10.1111/j.1600-0609.2010.01553.x. Epub 2011 Jan 11. Eur J Haematol. 2011. PMID: 21083612 No abstract available.

2

A new feature of the MYH9-related syndrome: chronic transaminase elevation.

Favier R, DiFeo A, Hezard N, Fabre M, Bedossa P, Martignetti JA. Favier R, et al. Among authors: martignetti ja. Hepatology. 2013 Mar;57(3):1288-9. doi: 10.1002/hep.25913. Epub 2012 Nov 27. Hepatology. 2013. PMID: 22806255 No abstract available.

3

Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity.

Sanborn KB, Mace EM, Rak GD, Difeo A, Martignetti JA, Pecci A, Bussel JB, Favier R, Orange JS. Sanborn KB, et al. Among authors: martignetti ja. Blood. 2011 Nov 24;118(22):5862-71. doi: 10.1182/blood-2011-03-344846. Blood. 2011. PMID: 22123909 Free PMC article.

4

The role of KLF6 and its splice variants in cancer therapy.

DiFeo A, Martignetti JA, Narla G. DiFeo A, et al. Among authors: martignetti ja. Drug Resist Updat. 2009 Feb-Apr;12(1-2):1-7. doi: 10.1016/j.drup.2008.11.001. Epub 2008 Dec 18. Drug Resist Updat. 2009. PMID: 19097929 Review.

5

Emerging roles of Kruppel-like factor 6 and Kruppel-like factor 6 splice variant 1 in ovarian cancer progression and treatment.

DiFeo A, Narla G, Martignetti JA. DiFeo A, et al. Among authors: martignetti ja. Mt Sinai J Med. 2009 Dec;76(6):557-66. doi: 10.1002/msj.20150. Mt Sinai J Med. 2009. PMID: 20014424 Free PMC article. Review.

6

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

Utsch B, DiFeo A, Kujat A, Karle S, Schuster V, Lenk H, Jacobs U, Müller M, Dötsch J, Rascher W, Reutter H, Martignetti JA, Ludwig M, Tröbs RB. Utsch B, et al. Among authors: martignetti ja. Am J Med Genet A. 2006 Oct 15;140(20):2251-3. doi: 10.1002/ajmg.a.31454. Am J Med Genet A. 2006. PMID: 16969870 No abstract available.

7

Torg-Winchester syndrome: lack of efficacy of pamidronate therapy.

Phadke SR, Ramirez M, DiFeo A, Martignetti JA, Girisha KM. Phadke SR, et al. Among authors: martignetti ja. Clin Dysmorphol. 2007 Apr;16(2):95-100. doi: 10.1097/MCD.0b013e3280147187. Clin Dysmorphol. 2007. PMID: 17351352 Clinical Trial.

8

Nucleo-cytoplasmic localization domains regulate Krüppel-like factor 6 (KLF6) protein stability and tumor suppressor function.

Rodríguez E, Aburjania N, Priedigkeit NM, DiFeo A, Martignetti JA. Rodríguez E, et al. Among authors: martignetti ja. PLoS One. 2010 Sep 9;5(9):e12639. doi: 10.1371/journal.pone.0012639. PLoS One. 2010. PMID: 20844588 Free PMC article.

9

Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.

Deuquet J, Abrami L, Difeo A, Ramirez MC, Martignetti JA, van der Goot FG. Deuquet J, et al. Among authors: martignetti ja. Hum Mutat. 2009 Apr;30(4):583-9. doi: 10.1002/humu.20872. Hum Mutat. 2009. PMID: 19191226

10

KLF6 is one transcription factor involved in regulating acid ceramidase gene expression.

Park JH, Eliyahu E, Narla G, DiFeo A, Martignetti JA, Schuchman EH. Park JH, et al. Among authors: martignetti ja. Biochim Biophys Acta. 2005 Dec 30;1732(1-3):82-7. doi: 10.1016/j.bbaexp.2006.01.002. Epub 2006 Jan 26. Biochim Biophys Acta. 2005. PMID: 16500425

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