| Year |
Citation |
Score |
| 2023 |
Ressler AK, Snellings DA, Girard R, Gallione CJ, Lightle R, Allen AS, Awad IA, Marchuk DA. Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations. Nature Communications. 14: 7009. PMID 37919320 DOI: 10.1038/s41467-023-42908-w |
0.81 |
|
| 2023 |
Li L, Ren AA, Gao S, Su YS, Yang J, Bockman J, Mericko-Ishizuka P, Griffin J, Shenkar R, Alcazar R, Moore T, Lightle R, DeBiasse D, Awad IA, Marchuk DA, et al. mTORC1 Inhibitor Rapamycin Inhibits Growth of Cerebral Cavernous Malformation in Adult Mice. Stroke. PMID 37746705 DOI: 10.1161/STROKEAHA.123.044108 |
0.336 |
|
| 2023 |
Wetzel-Strong SE, Galeffi F, Benavides C, Patrucco M, Bullock JL, Gallione CJ, Lee HK, Marchuk DA. Developmental Expression of the Sturge-Weber Syndrome-associated Genetic Mutation in Gnaq: a Formal Test of Happle's Paradominant Inheritance Hypothesis. Genetics. PMID 37098137 DOI: 10.1093/genetics/iyad077 |
0.324 |
|
| 2022 |
Romanos SG, Srinath A, Li Y, Xie B, Chen C, Li Y, Moore T, Bi D, Sone JY, Lightle R, Hobson N, Zhang D, Koskimäki J, Shen L, McCurdy S, ... ... Marchuk DA, et al. Circulating Plasma miRNA Homologs in Mice and Humans Reflect Familial Cerebral Cavernous Malformation Disease. Translational Stroke Research. PMID 35715588 DOI: 10.1007/s12975-022-01050-3 |
0.794 |
|
| 2022 |
Gallione CJ, Detter MR, Sheline A, Christmas HM, Lee C, Marchuk DA. Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene. Human Genetics. PMID 35488064 DOI: 10.1007/s00439-022-02458-5 |
0.383 |
|
| 2022 |
Snellings DA, Girard R, Lightle R, Srinath A, Romanos S, Li Y, Chen C, Ren AA, Kahn ML, Awad IA, Marchuk DA. Developmental venous anomalies are a genetic primer for cerebral cavernous malformations. Nature Cardiovascular Research. 1: 246-252. PMID 35355835 DOI: 10.1038/s44161-022-00035-7 |
0.787 |
|
| 2021 |
Snellings DA, Hong CC, Ren AA, Lopez-Ramirez MA, Girard R, Srinath A, Marchuk DA, Ginsberg MH, Awad IA, Kahn ML. Cerebral Cavernous Malformation: From Mechanism to Therapy. Circulation Research. 129: 195-215. PMID 34166073 DOI: 10.1161/CIRCRESAHA.121.318174 |
0.801 |
|
| 2021 |
Ren AA, Snellings DA, Su YS, Hong CC, Castro M, Tang AT, Detter MR, Hobson N, Girard R, Romanos S, Lightle R, Moore T, Shenkar R, Benavides C, Beaman MM, ... ... Marchuk DA, et al. PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism. Nature. PMID 33910229 DOI: 10.1038/s41586-021-03562-8 |
0.796 |
|
| 2019 |
Tang AT, Sullivan KR, Hong CC, Goddard LM, Mahadevan A, Ren A, Pardo H, Peiper A, Griffin E, Tanes C, Mattei LM, Yang J, Li L, Mericko-Ishizuka P, Shen L, ... ... Marchuk DA, et al. Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation. Science Translational Medicine. 11. PMID 31776290 DOI: 10.1126/Scitranslmed.Aaw3521 |
0.766 |
|
| 2019 |
Snellings DA, Gallione CJ, Clark DS, Vozoris NT, Faughnan ME, Marchuk DA. Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1. American Journal of Human Genetics. PMID 31630786 DOI: 10.1016/j.ajhg.2019.09.010 |
0.81 |
|
| 2019 |
Koskimäki J, Zhang D, Li Y, Saadat L, Moore T, Lightle R, Polster SP, Carrión-Penagos J, Lyne SB, Zeineddine HA, Shi C, Shenkar R, Romanos S, Avner K, Srinath A, ... ... Marchuk DA, et al. Transcriptome clarifies mechanisms of lesion genesis versus progression in models of Ccm3 cerebral cavernous malformations. Acta Neuropathologica Communications. 7: 132. PMID 31426861 DOI: 10.1186/S40478-019-0789-0 |
0.794 |
|
| 2019 |
Lyne SB, Girard R, Koskimäki J, Zeineddine HA, Zhang D, Cao Y, Li Y, Stadnik A, Moore T, Lightle R, Shi C, Shenkar R, Carrión-Penagos J, Polster SP, Romanos S, ... ... Marchuk DA, et al. Biomarkers of cavernous angioma with symptomatic hemorrhage. Jci Insight. 4. PMID 31217347 DOI: 10.1172/Jci.Insight.128577 |
0.699 |
|
| 2019 |
Shenkar R, Peiper A, Pardo H, Moore T, Lightle R, Girard R, Hobson N, Polster SP, Koskimäki J, Zhang D, Lyne SB, Cao Y, Chaudagar K, Saadat L, Gallione C, ... ... Marchuk D, et al. Rho Kinase Inhibition Blunts Lesion Development and Hemorrhage in Murine Models of Aggressive Pdcd10/Ccm3 Disease. Stroke. STROKEAHA118024058. PMID 30744543 DOI: 10.1161/Strokeaha.118.024058 |
0.326 |
|
| 2019 |
Koskimäki J, Girard R, Li Y, Saadat L, Zeineddine HA, Lightle R, Moore T, Lyne S, Avner K, Shenkar R, Cao Y, Shi C, Polster SP, Zhang D, Carrión-Penagos J, ... ... Marchuk DA, et al. Comprehensive transcriptome analysis of cerebral cavernous malformation across multiple species and genotypes. Jci Insight. 4. PMID 30728328 DOI: 10.1172/Jci.Insight.126167 |
0.756 |
|
| 2019 |
Shenkar R, Tang A, Gallione C, Moore T, Lightle R, Girard R, Hobson N, Cao Y, Koskimäki J, Peiper A, Pardo H, Griffin E, Dalldorf D, Marchuk D, Kahn M, et al. Abstract TMP106: Intestinal Barrier Leakage Exacerbates Cerebral Cavernous Malformation Development in Murine Models Stroke. 50. DOI: 10.1161/Str.50.Suppl_1.Tmp106 |
0.304 |
|
| 2019 |
Koskimäki J, Girard R, Li Y, Zeineddine H, Lightle R, Moore T, Lyne S, Shenkar R, Saadat L, Cao Y, Polster SP, Zhang D, Carrion-Penagos J, Lopez-Ramirez MA, Chapman E, ... ... Marchuk DA, et al. Abstract 64: Novel and Known Genes Elucidated in Cerebral Cavernous Malformation Through Comparative Transcriptomic Analysis of Multiple Model Species and Human Microdissected Lesional Endothelial Cells Stroke. 50. DOI: 10.1161/Str.50.Suppl_1.64 |
0.754 |
|
| 2018 |
Detter MR, Snellings DA, Marchuk DA. Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells. Circulation Research. 123: 1143-1151. PMID 30359189 DOI: 10.1161/CIRCRESAHA.118.313970 |
0.809 |
|
| 2018 |
Zeineddine HA, Girard R, Saadat L, Shen L, Lightle R, Moore T, Cao Y, Hobson N, Shenkar R, Avner K, Chaudager K, Koskimäki J, Polster SP, Fam MD, Shi C, ... ... Marchuk DA, et al. Phenotypic characterization of murine models of cerebral cavernous malformations. Laboratory Investigation; a Journal of Technical Methods and Pathology. PMID 29946133 DOI: 10.1038/S41374-018-0030-Y |
0.33 |
|
| 2017 |
McClung JM, McCord TJ, Ryan TE, Schmidt CA, Green TD, Southerland KW, Reinardy JL, Mueller SB, Venkatraman TN, Lascola CD, Keum S, Marchuk DA, Spangenburg EE, Dokun AO, Annex BH, et al. A BAG3 Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy. Circulation. PMID 28442482 DOI: 10.1161/Circulationaha.116.024873 |
0.682 |
|
| 2016 |
Shenkar R, Shi C, Austin C, Moore T, Lightle R, Cao Y, Zhang L, Wu M, Zeineddine HA, Girard R, McDonald DA, Rorrer A, Gallione C, Pytel P, Liao JK, ... Marchuk DA, et al. RhoA Kinase Inhibition With Fasudil Versus Simvastatin in Murine Models of Cerebral Cavernous Malformations. Stroke. PMID 27879448 DOI: 10.1161/Strokeaha.116.015013 |
0.489 |
|
| 2016 |
Lee HK, Keum S, Sheng H, Warner DS, Lo DC, Marchuk DA. Natural allelic variation of the IL-21 receptor modulates ischemic stroke infarct volume. The Journal of Clinical Investigation. PMID 27400126 DOI: 10.1172/Jci84491 |
0.707 |
|
| 2015 |
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, Marcondes de Souza J, Lee C, ... Marchuk DA, et al. Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 188-96. PMID 25122144 DOI: 10.1038/Gim.2014.97 |
0.792 |
|
| 2014 |
Shen F, Degos V, Chu PL, Han Z, Westbroek EM, Choi EJ, Marchuk D, Kim H, Lawton MT, Maze M, Young WL, Su H. Endoglin deficiency impairs stroke recovery. Stroke; a Journal of Cerebral Circulation. 45: 2101-6. PMID 24876084 DOI: 10.1161/Strokeaha.114.005115 |
0.698 |
|
| 2014 |
McDonald DA, Shi C, Shenkar R, Gallione CJ, Akers AL, Li S, De Castro N, Berg MJ, Corcoran DL, Awad IA, Marchuk DA. Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis. Human Molecular Genetics. 23: 4357-70. PMID 24698976 DOI: 10.1093/Hmg/Ddu153 |
0.799 |
|
| 2013 |
Akers AL, Ball KL, Clancy M, Comi AM, Faughnan ME, Gopal-Srivastava R, Jacobs TP, Kim H, Krischer J, Marchuk DA, McCulloch CE, Morrison L, Moses M, Moy CS, Pawlikowska L, et al. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions. The Journal of Rare Disorders. 1: 5. PMID 25221778 |
0.732 |
|
| 2013 |
Keum S, Lee HK, Chu PL, Kan MJ, Huang MN, Gallione CJ, Gunn MD, Lo DC, Marchuk DA. Natural genetic variation of integrin alpha L (Itgal) modulates ischemic brain injury in stroke. Plos Genetics. 9: e1003807. PMID 24130503 DOI: 10.1371/Journal.Pgen.1003807 |
0.807 |
|
| 2013 |
Chu PL, Keum S, Marchuk DA. A novel genetic locus modulates infarct volume independently of the extent of collateral circulation. Physiological Genomics. 45: 751-63. PMID 23800850 DOI: 10.1152/Physiolgenomics.00063.2013 |
0.801 |
|
| 2012 |
McClung JM, McCord TJ, Keum S, Johnson S, Annex BH, Marchuk DA, Kontos CD. Skeletal muscle-specific genetic determinants contribute to the differential strain-dependent effects of hindlimb ischemia in mice. The American Journal of Pathology. 180: 2156-69. PMID 22445571 DOI: 10.1016/J.Ajpath.2012.01.032 |
0.691 |
|
| 2012 |
McDonald DA, Shi C, Shenkar R, Stockton RA, Liu F, Ginsberg MH, Marchuk DA, Awad IA. Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease. Stroke; a Journal of Cerebral Circulation. 43: 571-4. PMID 22034008 DOI: 10.1161/Strokeaha.111.625467 |
0.601 |
|
| 2011 |
Gallione CJ, Solatycki A, Awad IA, Weber JL, Marchuk DA. A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 662-6. PMID 21543988 DOI: 10.1097/GIM.0b013e318211ff8b |
0.339 |
|
| 2011 |
McDonald DA, Shenkar R, Shi C, Stockton RA, Akers AL, Kucherlapati MH, Kucherlapati R, Brainer J, Ginsberg MH, Awad IA, Marchuk DA. A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease. Human Molecular Genetics. 20: 211-22. PMID 20940147 DOI: 10.1093/Hmg/Ddq433 |
0.795 |
|
| 2010 |
Ahn SH, Deshmukh H, Johnson N, Cowell LG, Rude TH, Scott WK, Nelson CL, Zaas AK, Marchuk DA, Keum S, Lamlertthon S, Sharma-Kuinkel BK, Sempowski GD, Fowler VG. Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses. Plos Pathogens. 6: e1001088. PMID 20824097 DOI: 10.1371/Journal.Ppat.1001088 |
0.701 |
|
| 2010 |
Du F, Ozdowski EF, Kotowski IK, Marchuk DA, Sherwood NT. Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia. Human Molecular Genetics. 19: 1883-96. PMID 20154342 DOI: 10.1093/Hmg/Ddq064 |
0.785 |
|
| 2009 |
Keum S, Marchuk DA. A locus mapping to mouse chromosome 7 determines infarct volume in a mouse model of ischemic stroke. Circulation. Cardiovascular Genetics. 2: 591-8. PMID 20031639 DOI: 10.1161/Circgenetics.109.883231 |
0.721 |
|
| 2009 |
Wheeler FC, Tang H, Marks OA, Hadnott TN, Chu PL, Mao L, Rockman HA, Marchuk DA. Tnni3k modifies disease progression in murine models of cardiomyopathy. Plos Genetics. 5: e1000647. PMID 19763165 DOI: 10.1371/Journal.Pgen.1000647 |
0.707 |
|
| 2009 |
Whitehead KJ, Chan AC, Navankasattusas S, Koh W, London NR, Ling J, Mayo AH, Drakos SG, Jones CA, Zhu W, Marchuk DA, Davis GE, Li DY. The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases. Nature Medicine. 15: 177-84. PMID 19151728 DOI: 10.1038/nm.1911 |
0.315 |
|
| 2009 |
Akers AL, Johnson E, Steinberg GK, Zabramski JM, Marchuk DA. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. Human Molecular Genetics. 18: 919-30. PMID 19088123 DOI: 10.1093/Hmg/Ddn430 |
0.777 |
|
| 2009 |
Zhang H, Keum S, Marchuk D, Sealock R, Faber J. Analysis of 19 mouse strains demonstrates that genetic variations in pial collateral dimensions are the major determinants of severity of infarct volume after middle cerebral artery occlusion (MCAO) Cardiovascular Revascularization Medicine. 10: 273-274. DOI: 10.1016/J.Carrev.2009.04.099 |
0.716 |
|
| 2008 |
Shenkar R, Venkatasubramanian PN, Wyrwicz AM, Zhao JC, Shi C, Akers A, Marchuk DA, Awad IA. Advanced magnetic resonance imaging of cerebral cavernous malformations: part II. Imaging of lesions in murine models. Neurosurgery. 63: 790-7; discussion 79. PMID 18981891 DOI: 10.1227/01.Neu.0000315862.24920.49 |
0.713 |
|
| 2008 |
Dokun AO, Keum S, Hazarika S, Li Y, Lamonte GM, Wheeler F, Marchuk DA, Annex BH. A quantitative trait locus (LSq-1) on mouse chromosome 7 is linked to the absence of tissue loss after surgical hindlimb ischemia. Circulation. 117: 1207-15. PMID 18285563 DOI: 10.1161/Circulationaha.107.736447 |
0.681 |
|
| 2008 |
Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, Gianfrancesco F. Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. Neurogenetics. 9: 25-31. PMID 18060436 DOI: 10.1007/s10048-007-0109-x |
0.336 |
|
| 2007 |
Ostberg A, Moreno G, Su T, Trisnowati N, Marchuk D, Murrell DF, Murrell D. Genetic analysis of a family with hereditary glomuvenous malformations. The Australasian Journal of Dermatology. 48: 170-3. PMID 17680968 DOI: 10.1111/J.1440-0960.2007.00373.X |
0.46 |
|
| 2007 |
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. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 691-5. PMID 17440989 DOI: 10.1002/ajmg.b.30381 |
0.333 |
|
| 2007 |
Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. American Journal of Human Genetics. 80: 69-75. PMID 17160895 DOI: 10.1086/510439 |
0.372 |
|
| 2006 |
Carlson KM, Yamaga KM, Reinker KA, Hsia YE, Carpenter C, Abe LM, Perry AK, Person DA, Marchuk DA, Raney EM. Precocious osteoarthritis in a family with recurrent COL2A1 mutation. The Journal of Rheumatology. 33: 1133-6. PMID 16755660 |
0.784 |
|
| 2006 |
Plummer NW, Squire TL, Srinivasan S, Huang E, Zawistowski JS, Matsunami H, Hale LP, Marchuk DA. Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 17: 119-28. PMID 16465592 DOI: 10.1007/S00335-005-0098-8 |
0.816 |
|
| 2006 |
Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Human Mutation. 27: 118. PMID 16329096 DOI: 10.1002/Humu.9389 |
0.346 |
|
| 2005 |
Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL. Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. Stroke; a Journal of Cerebral Circulation. 36: 2278-80. PMID 16179574 DOI: 10.1161/01.Str.0000182253.91167.Fa |
0.374 |
|
| 2005 |
Plummer NW, Zawistowski JS, Marchuk DA. Genetics of cerebral cavernous malformations. Current Neurology and Neuroscience Reports. 5: 391-6. PMID 16131422 DOI: 10.1007/S11910-005-0063-7 |
0.819 |
|
| 2005 |
Wheeler FC, Fernandez L, Carlson KM, Wolf MJ, Rockman HA, Marchuk DA. QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 16: 414-23. PMID 16075368 DOI: 10.1007/S00335-005-2468-7 |
0.794 |
|
| 2005 |
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. Human Molecular Genetics. 14: 2521-31. PMID 16037064 DOI: 10.1093/Hmg/Ddi256 |
0.731 |
|
| 2004 |
Plummer NW, Gallione CJ, Srinivasan S, Zawistowski JS, Louis DN, Marchuk DA. Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. The American Journal of Pathology. 165: 1509-18. PMID 15509522 DOI: 10.1016/S0002-9440(10)63409-8 |
0.824 |
|
| 2004 |
Whitehead KJ, Plummer NW, Adams JA, Marchuk DA, Li DY. Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations. Development (Cambridge, England). 131: 1437-48. PMID 14993192 DOI: 10.1242/dev.01036 |
0.722 |
|
| 2003 |
Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, ... ... Marchuk DA, et al. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. American Journal of Human Genetics. 73: 1459-64. PMID 14624391 DOI: 10.1086/380314 |
0.813 |
|
| 2003 |
Le Corvoisier P, Park HY, Carlson KM, Marchuk DA, Rockman HA. Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy. Human Molecular Genetics. 12: 3097-107. PMID 14519689 DOI: 10.1093/Hmg/Ddg333 |
0.784 |
|
| 2003 |
Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, Lux A, McKinnon W, Marchuk D, Guttmacher A. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. Journal of Medical Genetics. 40: 585-90. PMID 12920067 DOI: 10.1136/Jmg.40.8.585 |
0.446 |
|
| 2003 |
Le Corvoisier P, Park HY, Carlson KM, Donahue MP, Marchuk DA, Rockman HA. Impact of genetic polymorphisms on heart failure prognosis. Archives Des Maladies Du Coeur Et Des Vaisseaux. 96: 197-206. PMID 12722550 |
0.795 |
|
| 2003 |
Marchuk DA, Srinivasan S, Squire TL, Zawistowski JS. Vascular morphogenesis: tales of two syndromes. Human Molecular Genetics. 12: R97-112. PMID 12668602 DOI: 10.1093/Hmg/Ddg103 |
0.738 |
|
| 2003 |
Srinivasan S, Hanes MA, Dickens T, Porteous ME, Oh SP, Hale LP, Marchuk DA. A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. Human Molecular Genetics. 12: 473-82. PMID 12588795 DOI: 10.1093/hmg/ddg050 |
0.315 |
|
| 2003 |
Le Corvoisier P, Park H, Carlson KM, Marchuk DA, Rockman HA. Two quantitative trait loci on chromosomes 4 and 18 modify mice survival in a model of heart failure Journal of Cardiac Failure. 9: S39. DOI: 10.1016/S1071-9164(03)00486-X |
0.769 |
|
| 2002 |
Suzuki M, Carlson KM, Marchuk DA, Rockman HA. Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy. Circulation. 105: 1824-9. PMID 11956126 DOI: 10.1161/01.Cir.0000014926.32463.89 |
0.792 |
|
| 2002 |
Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA. KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. Human Molecular Genetics. 11: 389-96. PMID 11854171 DOI: 10.1093/Hmg/11.4.389 |
0.677 |
|
| 2002 |
Walter JW, North PE, Waner M, Mizeracki A, Blei F, Walker JW, Reinisch JF, Marchuk DA. Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma. Genes, Chromosomes & Cancer. 33: 295-303. PMID 11807987 DOI: 10.1002/gcc.10028 |
0.316 |
|
| 2001 |
Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. American Journal of Human Genetics. 68: 1077-85. PMID 11309678 DOI: 10.1086/320111 |
0.308 |
|
| 2000 |
Gallione CJ, Scheessele EA, Reinhardt D, Duits AJ, Berg JN, Westermann CJ, Marchuk DA. Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. Human Genetics. 107: 40-4. PMID 10982033 DOI: 10.1007/s004390000326 |
0.303 |
|
| 2000 |
McDonald JE, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward KJ. Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. American Journal of Medical Genetics. 93: 320-7. PMID 10946360 DOI: 10.1002/1096-8628(20000814)93:4<320::AID-AJMG12>3.0.CO;2-R |
0.307 |
|
| 2000 |
Arthur HM, Ure J, Smith AJ, Renforth G, Wilson DI, Torsney E, Charlton R, Parums DV, Jowett T, Marchuk DA, Burn J, Diamond AG. Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. Developmental Biology. 217: 42-53. PMID 10625534 DOI: 10.1006/dbio.1999.9534 |
0.318 |
|
| 1999 |
Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, ... ... Marchuk DA, et al. Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Human Molecular Genetics. 8: 2325-33. PMID 10545614 DOI: 10.1093/Hmg/8.12.2325 |
0.348 |
|
| 1998 |
Marchuk DA. Genetic abnormalities in hereditary hemorrhagic telangiectasia. Current Opinion in Hematology. 5: 332-8. PMID 9776212 DOI: 10.1097/00062752-199809000-00005 |
0.331 |
|
| 1998 |
Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, ... ... Marchuk DA, et al. Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Human Mutation. 11: 286-94. PMID 9554745 DOI: 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B |
0.357 |
|
| 1995 |
Porteous ME, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. Journal of Medical Genetics. 31: 925-6. PMID 7891373 DOI: 10.1136/Jmg.31.12.925 |
0.32 |
|
| 1995 |
PERICAK-VANCE MA, BALE AE, HAINES JL, KWIATKOWSKI DJ, PILZ A, SLAUGENHAUPT S, WHITE JA, EDWARDS JH, MARCHUK D, OLOPADE OI, ATTWOOD J, POVEY S. REPORT on the Fourth International Workshop on Chromosome 9: held at Williamsburg, Virginia, USA, April 23?25, 1995 Annals of Human Genetics. 59: 347-365. DOI: 10.1111/J.1469-1809.1995.Tb00756.X |
0.311 |
|
| 1994 |
McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL, Jackson CE, Iannuzzi M, Collins FS, Boehnke M, Porteous ME, ... ... Marchuk DA, et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34 Nature Genetics. 6: 197-204. PMID 8162075 DOI: 10.1038/Ng0294-197 |
0.447 |
|
| 1993 |
Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nature Genetics. 3: 122-6. PMID 8499945 DOI: 10.1038/Ng0293-122 |
0.414 |
|
| 1993 |
Gutmann DH, Boguski M, Marchuk D, Wigler M, Collins FS, Ballester R. Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis. Oncogene. 8: 761-9. PMID 8437860 |
0.42 |
|
| 1993 |
Andersen LB, Ballester R, Marchuk DA, Chang E, Gutmann DH, Saulino AM, Camonis J, Wigler M, Collins FS. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity. Molecular and Cellular Biology. 13: 487-95. PMID 8417346 DOI: 10.1128/Mcb.13.1.487 |
0.379 |
|
| 1993 |
Andersen LB, Tarlé SA, Marchuk DA, Legius E, Collins FS. A compound nucleotide repeat in the neurofibromatosis (NF1) gene. Human Molecular Genetics. 2: 1083. PMID 8364559 DOI: 10.1093/Hmg/2.7.1083-A |
0.359 |
|
| 1993 |
Reyniers E, De Boulle K, Marchuk DA, Andersen LB, Collins FS, Willems PJ. An EcoRI RFLP in the 5' region of the human NF1 gene. Human Genetics. 92: 631. PMID 7903272 DOI: 10.1007/Bf00420953 |
0.385 |
|
| 1992 |
Chandrasekharappa SC, Marchuk DA, Collins FS. Analysis of yeast artificial chromosome clones. Methods in Molecular Biology (Clifton, N.J.). 12: 235-57. PMID 21409638 DOI: 10.1385/0-89603-229-9:235 |
0.393 |
|
| 1992 |
Marchuk DA, Tavakkol R, Wallace MR, Brownstein BH, Taillon-Miller P, Fong CT, Legius E, Andersen LB, Glover TW, Collins FS. A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. Genomics. 13: 672-80. PMID 1639394 DOI: 10.1016/0888-7543(92)90140-N |
0.372 |
|
| 1992 |
Legius E, Marchuk DA, Hall BK, Andersen LB, Wallace MR, Collins FS, Glover TW. NF1-related locus on chromosome 15. Genomics. 13: 1316-8. PMID 1505963 DOI: 10.1016/0888-7543(92)90055-W |
0.405 |
|
| 1992 |
Kayes LM, Schroeder WT, Marchuk DA, Collins FS, Riccardi VM, Duvic M, Stephens K. The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene. Genomics. 14: 369-76. PMID 1358802 DOI: 10.1016/S0888-7543(05)80228-9 |
0.424 |
|
| 1992 |
Martin-Gallardo A, Marchuk DA, Gocayne J, Kerlavage AR, McCombie WR, Venter JC, Collins FS, Wallace MR. Sequencing and analysis of genomic fragments from the NF1 locus. Dna Sequence : the Journal of Dna Sequencing and Mapping. 3: 237-43. PMID 1338369 DOI: 10.3109/10425179209034023 |
0.375 |
|
| 1991 |
Marchuk D, Drumm M, Saulino A, Collins FS. Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucleic Acids Research. 19: 1154. PMID 2020552 DOI: 10.1093/Nar/19.5.1154 |
0.375 |
|
| 1991 |
Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH, Boguski M, Collins FS. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics. 11: 931-40. PMID 1783401 DOI: 10.1016/0888-7543(91)90017-9 |
0.408 |
|
| 1991 |
Andersen LB, Wallace MR, Marchuk DA, Tavakkol R, Mitchell A, Saulino AM, Collins FS. A highly polymorphic cDNA probe in the NF1 gene. Nucleic Acids Research. 19: 3754. PMID 1677185 DOI: 10.1093/Nar/19.13.3754 |
0.376 |
|
| 1991 |
Andersen LB, Wallace MR, Marchuk DA, Cawthon RM, Odeh HM, Letcher R, White RL, Collins FS. A polymorphic cDNA probe on chromosome 17q11.2 located within the NF1 gene [D17S376]. Nucleic Acids Research. 19: 197. PMID 1672744 DOI: 10.1093/nar/19.1.197-a |
0.366 |
|
| 1990 |
Wallace MR, Andersen LB, Fountain JW, Odeh HM, Viskochil D, Marchuk DA, O'Connell P, White R, Collins FS. A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region. Genes, Chromosomes & Cancer. 2: 271-7. PMID 2176541 DOI: 10.1002/Gcc.2870020404 |
0.379 |
|
| 1990 |
Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Brownstein BH, Collins FS. Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients Science. 249: 181-186. PMID 2134734 DOI: 10.1126/Science.2134734 |
0.462 |
|
| 1990 |
Ballester R, Marchuk D, Boguski M, Saulino A, Letcher R, Wigler M, Collins F. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins. Cell. 63: 851-9. PMID 2121371 DOI: 10.1016/0092-8674(90)90151-4 |
0.386 |
|
| 1990 |
Wallace MR, Marchuk DA, Andersen LB, Collins FS. In Reply: Type 1 Neurofibromatosis Gene: Correction Science. 250: 1749-1749. DOI: 10.1126/Science.250.4988.1749-B |
0.391 |
|
| 1988 |
Marchuk D, Collins FS. pYAC-RC, a yeast artificial chromosome vector for cloning DNA cut with infrequently cutting restriction endonucleases. Nucleic Acids Research. 16: 7743. PMID 3045765 DOI: 10.1093/Nar/16.15.7743 |
0.393 |
|
| 1987 |
Fuchs E, Tyner AL, Giudice GJ, Marchuk D, RayChaudhury A, Rosenberg M. The human keratin genes and their differential expression Current Topics in Developmental Biology. 22: 5-34. PMID 2443316 DOI: 10.1016/S0070-2153(08)60097-6 |
0.478 |
|
| 1987 |
RayChaudhury A, Marchuk D, Lindhurst M, Fuchs E. Three tightly linked genes encoding human type I keratins: conservation of sequence in the 5'-untranslated leader and 5'-upstream regions of coexpressed keratin genes. Molecular and Cellular Biology. 6: 539-48. PMID 2431270 DOI: 10.1128/Mcb.6.2.539 |
0.496 |
|
| 1985 |
Marchuk D, McCrohon S, Fuchs E. Remarkable conservation of structure among intermediate filament genes. Cell. 39: 491-8. PMID 6210150 DOI: 10.1016/0092-8674(84)90456-2 |
0.497 |
|
| 1985 |
Marchuk D, McCrohon S, Fuchs E. Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene. Proceedings of the National Academy of Sciences of the United States of America. 82: 1609-13. PMID 2580298 DOI: 10.1073/Pnas.82.6.1609 |
0.509 |
|
| 1985 |
Fuchs E, Hanukoglu I, Marchuk D, Grace MP, Kim KH. The nature and significance of differential keratin gene expression. Annals of the New York Academy of Sciences. 455: 436-50. PMID 2417525 DOI: 10.1111/J.1749-6632.1985.Tb50427.X |
0.686 |
|
| 1984 |
Kim KH, Marchuk D, Fuchs E. Expression of unusually large keratins during terminal differentiation: balance of type I and type II keratins is not disrupted. The Journal of Cell Biology. 99: 1872-7. PMID 6208205 DOI: 10.1083/Jcb.99.5.1872 |
0.45 |
|
| 1983 |
Fuchs E, Marchuk D. Type I and type II keratins have evolved from lower eukaryotes to form the epidermal intermediate filaments in mammalian skin. Proceedings of the National Academy of Sciences of the United States of America. 80: 5857-61. PMID 6193525 DOI: 10.1073/Pnas.80.19.5857 |
0.467 |
|
| Show low-probability matches. |