Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms

American Journal of Human Genetics

Volumn 89, Issue 2, 2011, Pages 313-319

  Abu Safieh, Leen ^a   Abboud, Emad B ^b   Alkuraya, Hisham ^a,b   Shamseldin, Hanan ^a   Al Enzi, Shamsa ^a   Al Abdi, Lama ^a   Hashem, Mais ^a   Colak, Dilek ^a   Jarallah, Abdullah ^c   Ahmad, Hala ^a   Bobis, Steve ^a   Nemer, Georges ^d   Bitar, Fadi ^d   Alkuraya, Fowzan S ^a,c,e  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; INSULIN LIKE GROWTH FACTOR BINDING PROTEIN 7; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE; SOMATOMEDIN BINDING PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; GENE EXPRESSION; GERMLINE MICRONUCLEUS; HUMAN; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; RETINA ARTERY OCCLUSION; SINGLE NUCLEOTIDE POLYMORPHISM; UPREGULATION; VASCULAR ENDOTHELIUM;

ADOLESCENT; ADULT; ANEURYSM; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; FAMILY; FEMALE; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEINS; MALE; MAP KINASE SIGNALING SYSTEM; MITOGEN-ACTIVATED PROTEIN KINASE KINASES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS B-RAF; RETINAL ARTERY; RNA SPLICING; UP-REGULATION; YOUNG ADULT;

EID: 80051631085     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.07.010     Document Type: Article

References (22)

1. D. Clemmons, I. Robinson, and Y. Christen IGFs: Local Repair and Survival Factors Throughout Life Span 2010 Springer Berlin
2. J.I. Leu, and D.L. George Hepatic IGFBP1 is a prosurvival factor that binds to BAK, protects the liver from apoptosis, and antagonizes the proapoptotic actions of p53 at mitochondria Genes Dev. 21 2007 3095 3109 (Pubitemid 350223527)
3. A. Spagnoli, M. Torello, S.R. Nagalla, W.A. Horton, P. Pattee, V. Hwa, F. Chiarelli, C.T. Roberts Jr. , and R.G. Rosenfeld Identification of STAT-1 as a molecular target of IGFBP-3 in the process of chondrogenesis J. Biol. Chem. 277 2002 18860 18867 (Pubitemid 34952445)
4. W. Zhu, I. Shiojima, Y. Ito, Z. Li, H. Ikeda, M. Yoshida, A.T. Naito, J. Nishi, H. Ueno, and A. Umezawa IGFBP-4 is an inhibitor of canonical Wnt signalling required for cardiogenesis Nature 454 2008 345 349
5. D.A. Salih, G. Tripathi, C. Holding, T.A. Szestak, M.I. Gonzalez, E.J. Carter, L.J. Cobb, J.E. Eisemann, and J.M. Pell Insulin-like growth factor-binding protein 5 (Igfbp5) compromises survival, growth, muscle development, and fertility in mice Proc. Natl. Acad. Sci. USA 101 2004 4314 4319 (Pubitemid 38405926)
6. R.M. Popovici, M. Lu, S. Bhatia, G.H. Faessen, A.J. Giaccia, and L.C. Giudice Hypoxia regulates insulin-like growth factor-binding protein 1 in human fetal hepatocytes in primary culture: suggestive molecular mechanisms for in utero fetal growth restriction caused by uteroplacental insufficiency J. Clin. Endocrinol. Metab. 86 2001 2653 2659 (Pubitemid 32545720)
7. J.V. Silha, and L.J. Murphy Insulin-like growth factor binding proteins in development Adv. Exp. Med. Biol. 567 2005 55 89
8. S. Jogie-Brahim, D. Feldman, and Y. Oh Unraveling insulin-like growth factor binding protein-3 actions in human disease Endocr. Rev. 30 2009 417 437
9. R. Durai, M. Davies, W. Yang, S.Y. Yang, A. Seifalian, G. Goldspink, and M. Winslet Biology of insulin-like growth factor binding protein-4 and its role in cancer (review) Int. J. Oncol. 28 2006 1317 1325
10. P. Fang, V. Hwa, and R. Rosenfeld IGFBPs and cancer Novartis Found. Symp. 262 2004 215 230 discussion 230-234, 265-268
11. H.S. Dhindsa, and E.B. Abboud Familial retinal arterial macroaneurysms Retina 22 2002 607 615 (Pubitemid 35189563)
12. L. Abu Safieh, M.A. Aldahmesh, H. Shamseldin, M. Hashem, R. Shaheen, H. Alkuraya, S.A. Al Hazzaa, A. Al-Rajhi, and F.S. Alkuraya Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping J. Med. Genet. 47 2010 236 241
13. M. Zenker Noonan Syndrome and Related Disorders: A Matter of Deregulated Ras Signaling 2008 Karger Basel, Switzerland
14. M. Tartaglia, G. Zampino, and B.D. Gelb Noonan syndrome: clinical aspects and molecular pathogenesis Mol Syndromol 1 2010 2 26
15. A.T. Hooper, S.V. Shmelkov, S. Gupta, T. Milde, K. Bambino, K. Gillen, M. Goetz, S. Chavala, M. Baljevic, and A.J. Murphy Angiomodulin is a specific marker of vasculature and regulates vascular endothelial growth factor-A-dependent neoangiogenesis Circ. Res. 105 2009 201 208
16. M. Murphy, M.J. Pykett, P. Harnish, K.D. Zang, and D.L. George Identification and characterization of genes differentially expressed in meningiomas Cell Growth Differ. 4 1993 715 722
17. Y. Ono, T. Hashimoto, F. Umeda, M. Masakado, T. Yamauchi, S. Mizushima, M. Isaji, and H. Nawata Expression of prostacyclin-stimulating factor, a novel protein, in tissues of Wistar rats and in cultured cells Biochem. Biophys. Res. Commun. 202 1994 1490 1496 (Pubitemid 24265936)
18. W. Ruan, E. Xu, F. Xu, Y. Ma, H. Deng, Q. Huang, B. Lv, H. Hu, J. Lin, and J. Cui IGFBP7 plays a potential tumor suppressor role in colorectal carcinogenesis Cancer Biol. Ther. 6 2007 354 359 (Pubitemid 47328302)
19. N. Wajapeyee, R.W. Serra, X. Zhu, M. Mahalingam, and M.R. Green Role for IGFBP7 in senescence induction by BRAF Cell 141 2010 746 747
20. N. Wajapeyee, R.W. Serra, X. Zhu, M. Mahalingam, and M.R. Green Oncogenic BRAF induces senescence and apoptosis through pathways mediated by the secreted protein IGFBP7 Cell 132 2008 363 374 (Pubitemid 351191995)
21. K. Tamura, K. Hashimoto, K. Suzuki, M. Yoshie, M. Kutsukake, and T. Sakurai Insulin-like growth factor binding protein-7 (IGFBP7) blocks vascular endothelial cell growth factor (VEGF)-induced angiogenesis in human vascular endothelial cells Eur. J. Pharmacol. 610 2009 61 67
22. T. Nakamura, J. Gulick, R. Pratt, and J. Robbins Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations Proc. Natl. Acad. Sci. USA 106 2009 15436 15441