KRIT1

KRIT1

KRIT1, ankyrin repeat containing, also known as KRIT1, is a human gene.cite web | title = Entrez Gene: KRIT1 KRIT1, ankyrin repeat containing| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=889| accessdate = ]

PBB_Summary
section_title =
summary_text =

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Verlaan DJ, Davenport WJ, Stefan H, "et al." |title=Cerebral cavernous malformations: mutations in Krit1. |journal=Neurology |volume=58 |issue= 6 |pages= 853–7 |year= 2002 |pmid= 11914398 |doi=
*cite journal | author=Günel M, Awad IA, Anson J, Lifton RP |title=Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 14 |pages= 6620–4 |year= 1995 |pmid= 7604043 |doi=
*cite journal | author=Marchuk DA, Gallione CJ, Morrison LA, "et al." |title=A locus for cerebral cavernous malformations maps to chromosome 7q in two families. |journal=Genomics |volume=28 |issue= 2 |pages= 311–4 |year= 1996 |pmid= 8530042 |doi=
*cite journal | author=Serebriiskii I, Estojak J, Sonoda G, "et al." |title=Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. |journal=Oncogene |volume=15 |issue= 9 |pages= 1043–9 |year= 1997 |pmid= 9285558 |doi= 10.1038/sj.onc.1201268
*cite journal | author=Deloulme JC, Prichard L, Delattre O, Storm DR |title=The prooncoprotein EWS binds calmodulin and is phosphorylated by protein kinase C through an IQ domain. |journal=J. Biol. Chem. |volume=272 |issue= 43 |pages= 27369–77 |year= 1997 |pmid= 9341188 |doi=
*cite journal | author=Laberge-le Couteulx S, Jung HH, Labauge P, "et al." |title=Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. |journal=Nat. Genet. |volume=23 |issue= 2 |pages= 189–93 |year= 1999 |pmid= 10508515 |doi= 10.1038/13815
*cite journal | author=Sahoo T, Johnson EW, Thomas JW, "et al." |title=Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). |journal=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2325–33 |year= 1999 |pmid= 10545614 |doi=
*cite journal | author=Eerola I, Plate KH, Spiegel R, "et al." |title=KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. |journal=Hum. Mol. Genet. |volume=9 |issue= 9 |pages= 1351–5 |year= 2000 |pmid= 10814716 |doi=
*cite journal | author=Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC |title=Cloning of the murine Krit1 cDNA reveals novel mammalian 5' coding exons. |journal=Genomics |volume=70 |issue= 3 |pages= 392–5 |year= 2001 |pmid= 11161791 |doi= 10.1006/geno.2000.6410
*cite journal | author=Sahoo T, Goenaga-Diaz E, Serebriiskii IG, "et al." |title=Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. |journal=Genomics |volume=71 |issue= 1 |pages= 123–6 |year= 2001 |pmid= 11161805 |doi= 10.1006/geno.2000.6426
*cite journal | author=Eerola I, McIntyre B, Vikkula M |title=Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. |journal=Biochim. Biophys. Acta |volume=1517 |issue= 3 |pages= 464–7 |year= 2001 |pmid= 11342228 |doi=
*cite journal | author=Zhang J, Clatterbuck RE, Rigamonti D, "et al." |title=Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. |journal=Hum. Mol. Genet. |volume=10 |issue= 25 |pages= 2953–60 |year= 2002 |pmid= 11741838 |doi=
*cite journal | author=Couteulx SL, Brézin AP, Fontaine B, "et al." |title=A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas. |journal=Arch. Ophthalmol. |volume=120 |issue= 2 |pages= 217–8 |year= 2002 |pmid= 11831930 |doi=
*cite journal | author=Zawistowski JS, Serebriiskii IG, Lee MF, "et al." |title=KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. |journal=Hum. Mol. Genet. |volume=11 |issue= 4 |pages= 389–96 |year= 2002 |pmid= 11854171 |doi=
*cite journal | author=Verlaan DJ, Siegel AM, Rouleau GA |title=Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation. |journal=Am. J. Hum. Genet. |volume=70 |issue= 6 |pages= 1564–7 |year= 2002 |pmid= 11941540 |doi=
*cite journal | author=Gunel M, Laurans MS, Shin D, "et al." |title=KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 16 |pages= 10677–82 |year= 2002 |pmid= 12140362 |doi= 10.1073/pnas.122354499
*cite journal | author=Kehrer-Sawatzki H, Wilda M, Braun VM, "et al." |title=Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). |journal=Acta Neuropathol. |volume=104 |issue= 3 |pages= 231–40 |year= 2002 |pmid= 12172908 |doi= 10.1007/s00401-002-0552-6
*cite journal | author=Denier C, Gasc JM, Chapon F, "et al." |title=Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult. |journal=Mech. Dev. |volume=117 |issue= 1-2 |pages= 363–7 |year= 2003 |pmid= 12204286 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes


Wikimedia Foundation. 2010.

Игры ⚽ Поможем решить контрольную работу

Look at other dictionaries:

  • Cavernous angioma — Cavernous angioma, also known as cerebral cavernous malformation (CCM), cavernous haemangioma, and cavernoma, is a vascular disorder of the central nervous system that may appear either sporadically or exhibit autosomal dominant inheritance.It… …   Wikipedia

  • Cavernous hemangioma — Classification and external resources ICD 10 D18 (ILDS D18.014) ICD 9 228.0x …   Wikipedia

  • ITGB1BP1 — Integrin beta 1 binding protein 1, also known as ITGB1BP1, is a human gene.cite web | title = Entrez Gene: ITGB1BP1 integrin beta 1 binding protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=9270|… …   Wikipedia

  • Cavernomes Cérébraux Héréditaires — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Cavernomes cerebraux hereditaires — Cavernomes cérébraux héréditaires Cavernomes cérébraux héréditaires Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Cavernomes cérébraux héréditaires — Référence MIM 116860 603284 603285 Transmission Dominante Chromosome 7q11.2 q21 7p13 …   Wikipédia en Français

  • Хромосома 7 (человека) — Хромосома 7 одна их хромосом человека, обычно содержащаяся в ядре клетки в двух экземплярах. Она содержит более 158 миллионов пар оснований, что составляет от 5% до 5.5% всего материала ДНК в клетке тела человека. По разным оценкам, хромосома 7… …   Википедия

  • 7-я хромосома человека — Идиограмма 7 й хромосомы человека 7 я хромосома человека одна из 23 человеческих хромосом. Хромосома содержит более 158 млн пар оснований[1], что составляет от 5 до 5,5 % …   Википедия

  • SNX17 — Sorting nexin 17, also known as SNX17, is a human gene.cite web | title = Entrez Gene: SNX17 sorting nexin 17| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=9784| accessdate = ] PBB Summary section title …   Wikipedia

  • CCM2 — Cerebral cavernous malformation 2, also known as CCM2, is a human gene.cite web | title = Entrez Gene: CCM2 cerebral cavernous malformation 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=83605|… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”