Academic Journal
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
| Τίτλος: | Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. |
|---|---|
| Συγγραφείς: | Zhao S; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Mekbib KY; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., van der Ent MA; Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA., Allington G; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pathology, Yale School of Medicine, New Haven, CT, USA., Prendergast A; Yale Zebrafish Research Core, Yale School of Medicine, New Haven, CT, USA., Chau JE; Department of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT, USA., Smith H; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Shohfi J; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Ocken J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Duran D; Department of Neurosurgery, University of Mississippi Medical Center, Jackson, MS, USA., Furey CG; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.; Department of Neurosurgery, Barrow Neurological Institute, Phoenix, AZ, USA.; Ivy Brain Tumor Center, Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ, USA., Hao LT; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Duy PQ; Department of Neurosurgery, University of Virginia School of Medicine, Charlottesville, VA, USA., Reeves BC; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Zhang J; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Nelson-Williams C; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Chen D; Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Nottoli T; Yale Genome Editing Center, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT, USA., Bai S; Yale Genome Editing Center, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT, USA., Rolle M; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Zeng X; Department of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Dong W; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Fu PY; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Wang YC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Mane S; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Piwowarczyk P; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Fehnel KP; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., See AP; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Iskandar BJ; Department of Neurological Surgery, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Aagaard-Kienitz B; Department of Neurological Surgery, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Moyer QJ; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Dennis E; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Kiziltug E; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Kundishora AJ; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., DeSpenza T Jr; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Greenberg ABW; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Kidanemariam SM; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada., Hale AT; Department of Neurosurgery, University of Alabama School of Medicine, Birmingham, AL, USA., Johnston JM; Department of Neurosurgery, University of Alabama School of Medicine, Birmingham, AL, USA., Jackson EM; Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Storm PB; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lang SS; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Butler WE; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Carter BS; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Chapman P; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Stapleton CJ; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Patel AB; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Rodesch G; Service de Neuroradiologie Diagnostique et Thérapeutique, Hôpital Foch, Suresnes, France.; Department of Interventional Neuroradiology, Hôpital Fondation A. de Rothschild, Paris, France., Smajda S; Department of Interventional Neuroradiology, Hôpital Fondation A. de Rothschild, Paris, France., Berenstein A; Department of Neurosurgery, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Barak T; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Erson-Omay EZ; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Zhao H; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Moreno-De-Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, PA, USA., Proctor MR; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Smith ER; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Orbach DB; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurointerventional Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Alper SL; Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, MA, USA., Nicoli S; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Department of Pharmacology, Yale School of Medicine, New Haven, CT, USA.; Yale Cardiovascular Research Center, Department of Internal Medicine, Section of Cardiology, Yale School of Medicine, New Haven, CT, USA., Boggon TJ; Department of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT, USA.; Department of Pharmacology, Yale School of Medicine, New Haven, CT, USA., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Gunel M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., King PD; Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA. kingp@umich.edu., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA. jin810@wustl.edu.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA. jin810@wustl.edu., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Kahle.Kristopher@mgh.harvard.edu.; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA. Kahle.Kristopher@mgh.harvard.edu.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US. Kahle.Kristopher@mgh.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Kahle.Kristopher@mgh.harvard.edu. |
| Πηγή: | Nature communications [Nat Commun] 2023 Nov 17; Vol. 14 (1), pp. 7452. Date of Electronic Publication: 2023 Nov 17. |
| Τύπος έκδοσης: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: [London] : Nature Pub. Group |
| Ιατρικοί όροι (MeSH): | Vein of Galen Malformations*/genetics , Vein of Galen Malformations*/pathology , Vascular Diseases*, Endothelial Cells/pathology ; Signal Transduction/genetics ; GTPase-Activating Proteins/genetics ; Activin Receptors, Type II/genetics ; p120 GTPase Activating Protein/genetics ; Humans ; Animals ; Mice ; Mutation ; Mutation, Missense |
| Περίληψη: | To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature single-cell transcriptomes. We found the Ras suppressor p120 RasGAP (RASA1) harbored a genome-wide significant burden of loss-of-function de novo variants (2042.5-fold, p = 4.79 x 10-7). Rare, damaging transmitted variants were enriched in Ephrin receptor-B4 (EPHB4) (17.5-fold, p = 1.22 x 10-5), which cooperates with p120 RasGAP to regulate vascular development. Additional probands had damaging variants in ACVRL1, NOTCH1, ITGB1, and PTPN11. ACVRL1 variants were also identified in a multi-generational VOGM pedigree. Integrative genomic analysis defined developing endothelial cells as a likely spatio-temporal locus of VOGM pathophysiology. Mice expressing a VOGM-specific EPHB4 kinase-domain missense variant (Phe867Leu) exhibited disrupted developmental angiogenesis and impaired hierarchical development of arterial-capillary-venous networks, but only in the presence of a "second-hit" allele. These results illuminate human arterio-venous development and VOGM pathobiology and have implications for patients and their families. (© 2023. The Author(s).) |
| References: | Nucleic Acids Res. 2021 Jan 8;49(D1):D605-D612. (PMID: 33237311) J Cell Mol Med. 2013 Nov;17(11):1458-64. (PMID: 24373503) Cold Spring Harb Perspect Biol. 2010 May;2(5):a001875. (PMID: 20452960) Sci Signal. 2013 Feb 26;6(264):re1. (PMID: 23443682) Nature. 2018 Feb 22;554(7693):475-480. (PMID: 29443965) N Engl J Med. 2006 Aug 24;355(8):788-98. (PMID: 16928994) Eur J Paediatr Neurol. 2011 Mar;15(2):117-22. (PMID: 20970362) Ultrasound Obstet Gynecol. 2012 Dec;40(6):652-8. (PMID: 22605540) Trends Mol Med. 2019 Apr;25(4):265-286. (PMID: 30819650) Nature. 2012 Apr 04;485(7397):242-5. (PMID: 22495311) Blood. 2010 Sep 2;116(9):1604-12. (PMID: 20501893) Mol Cell Biol. 2000 Jul;20(13):4791-805. (PMID: 10848605) J Pediatr Genet. 2013 Dec;2(4):181-9. (PMID: 27625857) Biomed Res Int. 2014;2014:368082. (PMID: 24563863) J Neurosurg Pediatr. 2018 Apr;21(4):367-374. (PMID: 29350590) Int J Dev Biol. 2005;49(2-3):259-67. (PMID: 15906240) Neuroradiology. 1989;31(2):109-28. (PMID: 2664553) Respiration. 2017;94(3):242-250. (PMID: 28743113) Prog Growth Factor Res. 1994;5(1):55-72. (PMID: 8199354) Bioinformatics. 2014 Oct 15;30(20):2843-51. (PMID: 24974202) Neuron. 2010 Oct 21;68(2):192-5. (PMID: 20955926) Curr Top Dev Biol. 2010;92:31-71. (PMID: 20816392) J Clin Invest. 2016 Aug 1;126(8):3080-8. (PMID: 27400125) BMC Bioinformatics. 2013 Apr 15;14:128. (PMID: 23586463) Genesis. 2007 Dec;45(12):762-7. (PMID: 18064675) Nat Genet. 2014 Sep;46(9):944-50. (PMID: 25086666) Neuron. 2014 Dec 17;84(6):1226-39. (PMID: 25521378) J Biol Chem. 2005 Feb 18;280(7):5350-60. (PMID: 15574420) Am J Hum Genet. 2021 May 6;108(5):942-950. (PMID: 33891857) J Biol Chem. 2012 Aug 3;287(32):27066-77. (PMID: 22711529) Neuron. 2019 Feb 6;101(3):429-443.e4. (PMID: 30578106) Hum Mol Genet. 2000 May 1;9(8):1227-37. (PMID: 10767348) Eur J Med Genet. 2018 Jan;61(1):11-16. (PMID: 29024832) Circ J. 2008 Jan;72(1):127-33. (PMID: 18159113) Nat Med. 2020 Nov;26(11):1754-1765. (PMID: 33077954) Nature. 2010 Sep 9;467(7312):207-10. (PMID: 20729831) AJNR Am J Neuroradiol. 1992 Sep-Oct;13(5):1446-50. (PMID: 1414840) Br J Dermatol. 2008 May;158(5):1035-40. (PMID: 18363760) Clin Transl Med. 2020 Jun;10(2):e99. (PMID: 32564509) Genet Med. 2020 Feb;22(2):427-431. (PMID: 31474762) Genome Res. 2010 Sep;20(9):1297-303. (PMID: 20644199) Curr Protoc Hum Genet. 2015 Oct 06;87:7.25.1-7.25.15. (PMID: 26439716) N Engl J Med. 2021 Sep 9;385(11):996-1004. (PMID: 34496175) Circulation. 2017 Sep 12;136(11):1037-1048. (PMID: 28687708) Eur Radiol. 2000;10(9):1456-8. (PMID: 10997436) Nature. 2005 Sep 8;437(7056):270-4. (PMID: 16025100) Clin Hemorheol Microcirc. 2020;75(4):387-397. (PMID: 32280081) Development. 2020 Dec 7;147(23):. (PMID: 33144395) Nat Genet. 2020 Oct;52(10):1046-1056. (PMID: 32989326) Arch Dis Child. 1998 Jun;78(6):548-51. (PMID: 9713012) Am J Med Genet A. 2020 May;182(5):1255-1258. (PMID: 32170914) Angiogenesis. 2015 Apr;18(2):209-17. (PMID: 25557927) Am J Hum Genet. 2011 Jun 10;88(6):718-728. (PMID: 21596366) Childs Nerv Syst. 2021 Oct;37(10):3271-3276. (PMID: 33595709) Nucleic Acids Res. 2021 Jan 8;49(D1):D1029-D1037. (PMID: 32976581) Clin Genet. 2016 Oct;90(4):351-60. (PMID: 26777256) Nat Genet. 2017 Nov;49(11):1593-1601. (PMID: 28991257) Am J Hum Genet. 2003 Dec;73(6):1240-9. (PMID: 14639529) J Clin Endocrinol Metab. 2002 Aug;87(8):3529-33. (PMID: 12161469) Cereb Cortex. 2021 Feb 5;31(3):1489-1499. (PMID: 33119062) Stem Cell Res. 2020 Jul;46:101786. (PMID: 32485642) Nat Med. 2002 Sep;8(9):979-86. (PMID: 12185362) Interv Neuroradiol. 2021 Aug;27(4):539-546. (PMID: 33401991) Nucleic Acids Res. 2010 Sep;38(16):e164. (PMID: 20601685) J Biol Chem. 2007 Sep 28;282(39):28991-29001. (PMID: 17664272) Intern Med. 2020 Jan 15;59(2):221-227. (PMID: 31511490) Hum Mutat. 2013 Dec;34(12):1632-41. (PMID: 24038909) EMBO J. 2006 Oct 4;25(19):4686-96. (PMID: 16977320) Curr Opin Cell Biol. 2005 Jun;17(3):316-25. (PMID: 15901503) J Neurol Neurosurg Psychiatry. 2016 Sep;87(9):916-23. (PMID: 26818729) J Med Genet. 2003 Dec;40(12):865-71. (PMID: 14684682) Nucleic Acids Res. 2018 Jul 2;46(W1):W242-W245. (PMID: 29762716) Cell. 1998 May 29;93(5):741-53. (PMID: 9630219) Hum Mutat. 2008 Jul;29(7):959-65. (PMID: 18446851) Bioinformatics. 2015 May 1;31(9):1375-81. (PMID: 25535243) Nat Neurosci. 2016 May 26;19(6):771-83. (PMID: 27227366) Brain. 2018 Apr 1;141(4):979-988. (PMID: 29444212) Science. 1988 Dec 23;242(4886):1697-700. (PMID: 3201259) STAR Protoc. 2021 Mar 10;2(1):100383. (PMID: 33748785) Obstet Gynecol. 1994 Apr;83(4):543-8. (PMID: 8134064) JAMA Neurol. 2020 Aug 1;77(8):992-999. (PMID: 32338714) Eur J Hum Genet. 2018 Oct;26(10):1521-1536. (PMID: 29891884) Nat Genet. 2005 Mar;37(3):275-81. (PMID: 15731757) Clin Genet. 2016 Jul;90(1):55-62. (PMID: 26572829) Hemasphere. 2019 Jun 04;3(3):e195. (PMID: 31723831) Nat Genet. 2015 May;47(5):512-7. (PMID: 25848748) Hum Mol Genet. 2015 Apr 15;24(8):2125-37. (PMID: 25552646) Genes Dev. 1999 Feb 1;13(3):295-306. (PMID: 9990854) Clin Genet. 2021 Feb;99(2):330-331. (PMID: 33118152) J Clin Invest. 2019 Jun 11;129(9):3545-3561. (PMID: 31185000) EMBO J. 2002 Apr 2;21(7):1684-94. (PMID: 11927552) Neuron. 2018 Jul 25;99(2):302-314.e4. (PMID: 29983323) Int J Mol Sci. 2019 Oct 25;20(21):. (PMID: 31731545) N Engl J Med. 2012 Nov 15;367(20):1921-9. (PMID: 23033978) Nature. 2010 May 27;465(7297):483-6. (PMID: 20445537) Development. 2008 Jun;135(12):2193-202. (PMID: 18480158) Mol Cell. 1999 Sep;4(3):403-14. (PMID: 10518221) J Clin Invest. 2018 Nov 1;128(11):5185. (PMID: 30382944) Elife. 2016 Sep 08;5:. (PMID: 27606499) Cell. 2017 Jun 29;170(1):17-33. (PMID: 28666118) Science. 2022 Mar 4;375(6584):eabi7377. (PMID: 35084939) Neurosurg Clin N Am. 2012 Jan;23(1):165-77. (PMID: 22107867) Stat Appl Genet Mol Biol. 2005;4:Article17. (PMID: 16646834) Science. 2018 Dec 14;362(6420):. (PMID: 30545854) Eur J Hum Genet. 2006 Dec;14(12):1248-54. (PMID: 16957682) Nature. 2010 Oct 14;467(7317):832-8. (PMID: 20881960) Dev Dyn. 2015 Mar;244(3):391-409. (PMID: 25641373) Nat Genet. 2015 Jun;47(6):582-8. (PMID: 25961944) Pediatrics. 2011 Nov;128(5):e1307-10. (PMID: 21987708) Pediatr Neurol. 2012 Aug;47(2):125-8. (PMID: 22759690) Am J Med Genet A. 2020 Oct;182(10):2454-2460. (PMID: 32776686) Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82. (PMID: 14523231) J Biol Chem. 2016 Jul 8;291(28):14457-67. (PMID: 27151215) JAMA Neurol. 2021 Aug 1;78(8):993-1003. (PMID: 34125151) Eur J Med Genet. 2015 Oct;58(10):509-25. (PMID: 26341048) Am J Hum Genet. 2007 Sep;81(3):559-75. (PMID: 17701901) Nat Neurosci. 2022 Apr;25(4):458-473. (PMID: 35379995) Ann Neurol. 2018 Oct;84(4):547-555. (PMID: 30155909) Acta Neurochir Suppl. 2008;105:199-206. (PMID: 19066109) J Hematother Stem Cell Res. 2002 Feb;11(1):5-7. (PMID: 11846999) Neurol India. 2013 Jan-Feb;61(1):35-9. (PMID: 23466837) Methods Cell Biol. 2016;135:483-508. (PMID: 27443941) Nat Genet. 2006 Aug;38(8):904-9. (PMID: 16862161) Neurology. 2020 Nov 17;95(20):917-927. (PMID: 33004601) Nat Protoc. 2014 Aug;9(8):1956-68. (PMID: 25058643) J Neurol Neurosurg Psychiatry. 2014 Nov;85(11):1280-3. (PMID: 24777168) Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33. (PMID: 25431634) Asian J Neurosurg. 2016 Jan-Mar;11(1):69. (PMID: 26889287) Hum Mutat. 2022 Aug;43(8):1012-1030. (PMID: 34859531) Am J Hum Genet. 2002 Apr;70(4):866-74. (PMID: 11845407) BMC Med Genomics. 2021 Dec 6;14(1):288. (PMID: 34872578) Neurochem Int. 2019 Jun;126:126-138. (PMID: 30858016) Am J Hum Genet. 2014 Sep 4;95(3):275-84. (PMID: 25132448) Actas Dermosifiliogr. 2017 Jun;108(5):407-417. (PMID: 28126187) Neurosurgery. 2009 Jul;65(1):138-44; discussion 144-5. (PMID: 19574835) J Clin Invest. 2012 Feb;122(2):733-47. (PMID: 22232212) Methods Cell Biol. 2011;104:429-51. (PMID: 21924176) Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. (PMID: 17670762) AJNR Am J Neuroradiol. 2017 Dec;38(12):2308-2314. (PMID: 28982789) Lancet. 2012 Nov 10;380(9854):1674-82. (PMID: 23020937) J Neurosurg. 2014 Jun;120(6):1385-96. (PMID: 24410155) J Med Case Rep. 2022 Mar 1;16(1):99. (PMID: 35232468) J Neurosurg. 1974 Mar;40(3):304-12. (PMID: 4277495) Proc Natl Acad Sci U S A. 2012 Mar 13;109(11):4257-62. (PMID: 22371576) JCI Insight. 2022 Feb 22;7(4):. (PMID: 35015735) Neuron. 2017 May 3;94(3):486-499.e9. (PMID: 28472652) J Cereb Blood Flow Metab. 2002 Mar;22(3):245-52. (PMID: 11891429) Hum Mutat. 2002 Oct;20(4):298-304. (PMID: 12325025) Nat Genet. 2011 Jun;43(6):590-4. (PMID: 21572413) Nature. 2021 Feb;590(7845):290-299. (PMID: 33568819) J Neurointerv Surg. 2022 Sep;14(9):910-919. (PMID: 35169032) Am J Med Genet A. 2016 Jun;170(6):1450-4. (PMID: 26969842) Hum Mol Genet. 2009 Mar 1;18(5):911-8. (PMID: 19088124) |
| Grant Information: | R01 NS109358 United States NS NINDS NIH HHS; R01 HL146352 United States HL NHLBI NIH HHS; R01 NS111029 United States NS NINDS NIH HHS; R01 NS131610 United States NS NINDS NIH HHS; R00 HL143036 United States HL NHLBI NIH HHS; U54 HG006504 United States HG NHGRI NIH HHS; K99 HL143036 United States HL NHLBI NIH HHS; UL1 TR001863 United States TR NCATS NIH HHS; R01 HL120888 United States HL NHLBI NIH HHS; T32 GM007205 United States GM NIGMS NIH HHS; TL1 TR001864 United States TR NCATS NIH HHS |
| Substance Nomenclature: | 0 (GTPase-Activating Proteins) EC 2.7.11.30 (ACVRL1 protein, human) EC 2.7.11.30 (Activin Receptors, Type II) 0 (RASA1 protein, human) 0 (p120 GTPase Activating Protein) |
| Entry Date(s): | Date Created: 20231117 Date Completed: 20231120 Latest Revision: 20260726 |
| Update Code: | 20260726 |
| PubMed Central ID: | PMC10656524 |
| DOI: | 10.1038/s41467-023-43062-z |
| PMID: | 37978175 |
| Βάση Δεδομένων: | MEDLINE |
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