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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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KRIT1

Introduction

KRIT1, ankyrin repeat containing, also known as KRIT1, is a human gene.[1]

References

References

  1. ↑ “Entrez Gene: KRIT1 KRIT1, ankyrin repeat containing”.
Further reading

Further reading

  • Verlaan DJ, Davenport WJ, Stefan H; et al. (2002). “Cerebral cavernous malformations: mutations in Krit1”. Neurology. 58 (6): 853–7. PMID 11914398.
  • Günel M, Awad IA, Anson J, Lifton RP (1995). “Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21”. Proc. Natl. Acad. Sci. U.S.A. 92 (14): 6620–4. PMID 7604043.
  • Marchuk DA, Gallione CJ, Morrison LA; et al. (1996). “A locus for cerebral cavernous malformations maps to chromosome 7q in two families”. Genomics. 28 (2): 311–4. PMID 8530042.
  • Serebriiskii I, Estojak J, Sonoda G; et al. (1997). “Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22”. Oncogene. 15 (9): 1043–9. doi:10.1038/sj.onc.1201268. PMID 9285558.
  • Deloulme JC, Prichard L, Delattre O, Storm DR (1997). “The prooncoprotein EWS binds calmodulin and is phosphorylated by protein kinase C through an IQ domain”. J. Biol. Chem. 272 (43): 27369–77. PMID 9341188.
  • Laberge-le Couteulx S, Jung HH, Labauge P; et al. (1999). “Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas”. Nat. Genet. 23 (2): 189–93. doi:10.1038/13815. PMID 10508515.
  • Sahoo T, Johnson EW, Thomas JW; et al. (1999). “Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)”. Hum. Mol. Genet. 8 (12): 2325–33. PMID 10545614.
  • Eerola I, Plate KH, Spiegel R; et al. (2000). “KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation”. Hum. Mol. Genet. 9 (9): 1351–5. PMID 10814716.
  • Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC (2001). “Cloning of the murine Krit1 cDNA reveals novel mammalian 5′ coding exons”. Genomics. 70 (3): 392–5. doi:10.1006/geno.2000.6410. PMID 11161791.
  • Sahoo T, Goenaga-Diaz E, Serebriiskii IG; et al. (2001). “Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene”. Genomics. 71 (1): 123–6. doi:10.1006/geno.2000.6426. PMID 11161805.
  • Eerola I, McIntyre B, Vikkula M (2001). “Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1”. Biochim. Biophys. Acta. 1517 (3): 464–7. PMID 11342228.
  • Zhang J, Clatterbuck RE, Rigamonti D; et al. (2002). “Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation”. Hum. Mol. Genet. 10 (25): 2953–60. PMID 11741838.
  • Couteulx SL, Brézin AP, Fontaine B; et al. (2002). “A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas”. Arch. Ophthalmol. 120 (2): 217–8. PMID 11831930.
  • Zawistowski JS, Serebriiskii IG, Lee MF; et al. (2002). “KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis”. Hum. Mol. Genet. 11 (4): 389–96. PMID 11854171.
  • Verlaan DJ, Siegel AM, Rouleau GA (2002). “Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation”. Am. J. Hum. Genet. 70 (6): 1564–7. PMID 11941540.
  • Gunel M, Laurans MS, Shin D; et al. (2002). “KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein”. Proc. Natl. Acad. Sci. U.S.A. 99 (16): 10677–82. doi:10.1073/pnas.122354499. PMID 12140362.
  • Kehrer-Sawatzki H, Wilda M, Braun VM; et al. (2002). “Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)”. Acta Neuropathol. 104 (3): 231–40. doi:10.1007/s00401-002-0552-6. PMID 12172908.
  • Denier C, Gasc JM, Chapon F; et al. (2003). “Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult”. Mech. Dev. 117 (1–2): 363–7. PMID 12204286.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.

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