Page 191 - Read Online
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Page 18 of 23                                                  Padarti et al. Vessel Plus 2018;2:21  I  http://dx.doi.org/10.20517/2574-1209.2018.34

               16.  Hilder TL, Malone MH, Bencharit S, Colicelli J, Haystead TA, Johnson GL, Wu CC. Proteomic identification of the cerebral cavernous
                   malformation signaling complex. J Proteome Res 2007;6:4343-55.
               17.  Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA. CCM1 and CCM2 protein interactions in
                   cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet 2005;14:2521-31.
               18.  Zhang J, Rigamonti D, Dietz HC, Clatterbuck RE. Interaction between krit1 and malcavernin: implications for the pathogenesis of
                   cerebral cavernous malformations. Neurosurgery 2007;60:353-9; discussion 9.
               19.  Zhang J, Dubey P, Padarti A, Zhang A, Patel R, Patel V, Cistola D, Badr A. Novel functions of CCM1 delimit the relationship of PTB/
                   PH domains. Biochim Biophys Acta 2017;1865:1274-86.
               20.  Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC. Interaction between krit1 and icap1alpha infers perturbation of integrin
                   beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet 2001;10:2953-60.
               21.  Ma X, Zhao H, Shan J, Long F, Chen Y, Chen Y, Zhang Y, Han X, Ma D. PDCD10 interacts with Ste20-related kinase MST4 to promote
                   cell growth and transformation via modulation of the ERK pathway. Mol Biol Cell 2007;18:1965-78.
               22.  Uhlik MT, Abell AN, Johnson NL, Sun W, Cuevas BD, Lobel-Rice KE, et al. Rac-MEKK3-MKK3 scaffolding for p38 MAPK
                   activation during hyperosmotic shock. Nat Cell Biol 2003;5:1104-10.
               23.  Zhang J. Molecular biology of cerebral cavernous malformation. In: Rigamonti D, editor. Cavernous Malformations of the Nervous
                   System. Cambridge: Cambridge University Press 2011 p. 31-40.
               24.  Zhang J, Basu S, Rigamonti D, Dietz HC, Clatterbuck RE. Depletion of KRIT1 leads to perturbation of beta 1 integrin-mediated
                   endothelial cell angiogenesis in the pathogenesis of cerebral cavernous malformation. Stroke 2005;36:425.
               25.  Zhang J, Basu S, Rigamonti D, Dietz HC, Clatterbuck RE. Krit1 modulates beta 1-integrin-mediated endothelial cell proliferation.
                   Neurosurgery 2008;63:571-8; discussion 8.
               26.  Richardson BT, Dibble CF, Borikova AL, Johnson GL. Cerebral cavernous malformation is a vascular disease associated with activated
                   RhoA signaling. Biol Chem 2013;394:35-42.
               27.  Labauge P, Enjolras O, Bonerandi JJ, Laberge S, Dandurand M, Joujoux JM, Tournier-Lasserve E. An association between autosomal
                   dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families. Ann Neurol 1999;45:250-4.
               28.  Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Innocenzi G, Vitale E, Liquori CL, Marchuk DA, Squitieri F. Highly
                   variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations. Am J
                   Med Genet B Neuropsychiatr Genet 2007;144B:691-5.
               29.  Grippaudo FR, Piane M, Amoroso M, Longo B, Penco S, Chessa L, Giubettini M, Santanelli F. Cutaneous venous malformations related
                   to KRIT1 mutation: case report and literature review. J Mol Neurosci 2013;51:442-5.
               30.  Toldo I, Drigo P, Mammi I, Marini V, Carollo C. Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous
                   malformation. Surg Neurol 2009;71:167-71.
               31.  Riant F, Bergametti F, Fournier HD, Chapon F, Michalak-Provost S, Cecillon M, Lejeune P, Hosseini H, Choe C, Orth M, Bernreuther
                   C, Boulday G, Denier C, Labauge P, Tournier-Lasserve E. CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and
                   Multiple Meningiomas. Mol Syndromol 2013;4:165-72.
               32.  Nikoubashman O, Wiesmann M, Tournier-Lasserve E, Mankad K, Bourgeois M, Brunelle F, Sainte-Rose C, Wiesmann M, Zerah M, Di
                   Rocco F. Natural history of cerebral dot-like cavernomas. Clin Radiol 2013;68:e453-9.
               33.  Fauth C, Rostasy K, Rath M, Gizewski E, Lederer AG, Sure U, et al. Highly variable intrafamilial manifestations of a CCM3 mutation
                   ranging from acute childhood cerebral haemorrhage to late-onset meningiomas. Clin Neurol Neurosurg 2015;128:41-3.
               34.  Sirvente J, Enjolras O, Wassef M, Tournier-Lasserve E, Labauge P. Frequency and phenotypes of cutaneous vascular malformations in a
                   consecutive series of 417 patients with familial cerebral cavernous malformations. J Eur Acad Dermatol Venereol 2009;23:1066-72.
               35.  Shenkar R, Shi C, Rebeiz T, Stockton RA, McDonald DA, Mikati AG, Zhang L, Austin C, Akers AL, Gallione CJ, Rorrer A, Gunel
                   M, Min W, De Souza JM, Lee C, Marchuk DA, Awad IA. Exceptional aggressiveness of cerebral cavernous malformation disease
                   associated with PDCD10 mutations. Genet Med. 2015;17(3):188-96.
               36.  Choquet H, Pawlikowska L, Lawton MT, Kim H. Genetics of cerebral cavernous malformations: current status and future prospects. J
                   Neurosurg Sci 2015;59:211-20.
               37.  Rath M, Jenssen SE, Schwefel K, Spiegler S, Kleimeier D, Sperling C, Kaderali L, Felbor U. High-throughput sequencing of the entire
                   genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral
                   cavernous malformations. Eur J Med Genet 2017;60:479-84.
               38.  Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC. Mutations in KRIT1 in familial cerebral cavernous malformations. Neurosurgery
                   2000;46:1272-7; discussion 7-9.
               39.  Riant F, Bergametti F, Ayrignac X, Boulday G, Tournier-Lasserve E. Recent insights into cerebral cavernous malformations: the
                   molecular genetics of CCM. FEBS J 2010;277:1070-5.
               40.  Haasdijk RA, Cheng C, Maat-Kievit AJ, Duckers HJ. Cerebral cavernous malformations: from molecular pathogenesis to genetic
                   counselling and clinical management. Eur J Hum Genet 2012;20:134-40.
               41.  Petersen TA, Morrison LA, Schrader RM, Hart BL. Familial versus sporadic cavernous malformations: differences in developmental
                   venous anomaly association and lesion phenotype. AJNR Am J Neuroradiol 2010;31:377-82.
               42.  Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC. Cloning of the murine Krit1 cDNA reveals novel mammalian 5’ coding exons.
                   Genomics 2000;70:392-5.
               43.  Gingras AR, Puzon-McLaughlin W, Ginsberg MH. The structure of the ternary complex of Krev interaction trapped 1 (KRIT1) bound
                   to both the Rap1 GTPase and the heart of glass (HEG1) cytoplasmic tail. J Biol Chem 2013;288:23639-49.
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