| 1 | COL4A1, COL4A1D
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| COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
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| Labelle-Dumais C, Schuitema V, Hayashi G, Hoff K, Gong W, Dao DQ, Ullian EM, Oishi P, Margeta M, Gould DB.
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| Am J Hum Genet 104(5):847-860. doi: 10.1016/j.ajhg.2019.03.007.
2019
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| 2 | COL4A1, HANAC
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| HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.
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| Guiraud S, Migeon T, Ferry A, Chen Z, Ouchelouche S, Verpont MC, Sado Y, Allamand V, Ronco P, Plaisier E.
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| Am J Pathol 187(3):505-516. doi: 10.1016/j.ajpath.2016.10.020. Epub 2017 Jan 3.
2017
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| 3 | COL4A1, COL4A2
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| Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.
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| Loscertales M, Nicolaou F, Jeanne M, Longoni M, Gould DB, Sun Y, Maalouf FI, Nagy N, Donahoe PK.
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| BMC Biol 14:59. doi: 10.1186/s12915-016-0281-2. Erratum in: BMC Biol. 2016;14:73.
2016
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| 4 | COL4A1, HANAC
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| A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.
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| Gale DP, Oygar DD, Lin F, Oygar PD, Khan N, Connor TM, Lapsley M, Maxwell PH, Neild GH.
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| Nephrol Dial Transplant 31(11):1908-1914. Epub 2016 Apr 8.
2016
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| 5 | COL4A1
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| ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice.
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| Jones FE, Bailey MA, Murray LS, Lu Y, McNeilly S, Schlötzer-Schrehardt U, Lennon R, Sado Y, Brownstein DG, Mullins JJ, Kadler KE, Van Agtmael T.
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| Dis Model Mech 9(2):165-76. doi: 10.1242/dmm.021741.
2016
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| 6 | COL4A1, COL4A2
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| Molecular and Genetic Analyses of Collagen Type IV Mutant Mouse Models of Spontaneous Intracerebral Hemorrhage Identify Mechanisms for Stroke Prevention.
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| Jeanne M, Jorgensen J, Gould DB.
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| Circulation 131(18):1555-65. doi: 10.1161/CIRCULATIONAHA.114.013395. Epub 2015 Mar 9.
2015
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| 7 | COL4A1, HANAC
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| Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.
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| Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K.
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| Am J Med Genet A 167A(1):156-8. doi: 10.1002/ajmg.a.36823. Epub 2014 Nov 25.
2015
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| 8 | COL4A1, COSS
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| Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation.
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| Tomotaki S, Mizumoto H, Hamabata T, Kumakura A, Shiota M, Arai H, Haginoya K, Hata D.
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| Pediatr Neonatol ediatr Neonatol. 2014 May 23. pii: S1875-9572(14)00065-5. doi: 10.1016/j.pedneo.2014.04.001. [Epub ahead of print]
2014
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| 9 | BSVD, COL4A1
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| Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
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| Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV.
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| Clin Genet 86(5):475-81. doi: 10.1111/cge.12379. Epub 2014 Apr 12.
2014
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| 10 | COL4A1, COL4A2
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| A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.
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| Xia XY, Li N, Cao X, Wu QY, Li TF, Zhang C, Li WW, Cui YX, Li XJ, Xue CY.
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| BMC Med Genet 15:97. doi: 10.1186/s12881-014-0097-2.
2014
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| 11 | COL4A1, WLKWS9
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| Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
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| Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB.
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| Hum Mol Genet 23(7):1709-22. doi: 10.1093/hmg/ddt560. Epub 2013 Nov 7.
2014
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| 12 | COL4A1, COSS
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| Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.
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| Lemmens R, Maugeri A, Niessen HW, Goris A, Tousseyn T, Demaerel P, Corveleyn A, Robberecht W, van der Knaap MS, Thijs VN, Zwijnenburg PJ.
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| Hum Mol Genet 22(2):391-7. doi: 10.1093/hmg/dds436. Epub 2012 Oct 12.
2013
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| 13 | COL4A1, PRCF
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| Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
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| Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H.
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| Ann Neurol 73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7.
2013
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| 14 | BSVD, COL4A1
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| Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
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| Rødahl E, Knappskog PM, Majewski J, Johansson S, Telstad W, Kråkenes J, Boman H.
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| Am J Ophthalmol 155(5):946-53. doi: 10.1016/j.ajo.2012.11.028. Epub 2013 Feb 6.
2013
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| 15 | COL4A1, COL4A2, COSS
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| COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke.
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| Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB.
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| Am J Hum Genet 90(1):91-101. Epub 2011 Dec 29. 2012
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| 16 | COL4A1, COL4A2, PRCF
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| De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly.
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| Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H.
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| Am J Hum Genet 90(1):86-90. Epub 2011 Dec 29. 2012
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| 17 | COL4A1, COSS
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| Childhood presentation of COL4A1 mutations.
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| Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P.
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| Dev Med Child Neurol 54(6):569-74. doi: 10.1111/j.1469-8749.2011.04198.x. Epub 2012 Jan 16. Review.
2012
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| 18 | COL4A1, COL4A2, COSS
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| COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
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| Kuo DS, Labelle-Dumais C, Gould DB.
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| Hum Mol Genet 21(R1):R97-110. Epub 2012 Aug 21. Review.
2012
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| 19 | COL4A1, PRCF
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| Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.
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| Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM.
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| Neurology 76(9):844-6. No abstract available.
2011
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| 20 | COL4A1, COL4A2
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| Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
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| Karolak JA, Kulinska K, Nowak DM, Pitarque JA, Molinari A, Rydzanicz M, Bejjani BA, Gajecka M.
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| Mol Vis 17:827-43.
2011
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| 21 | COL4A1, COSS
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| COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
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| Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y.
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| Neuropediatrics 42(6):227-33. doi: 10.1055/s-0031-1295493. Epub 2011 Dec 1.
2011
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| 22 | COL4A1, WLKWS9
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| COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
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| Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB.
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| PLoS Genet 7(5):e1002062. doi: 10.1371/journal.pgen.1002062. Epub 2011 May 19.
2011
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| 23 | COL4A1, COL4A2, COSS
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| Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.
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| Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A.
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| Curr Med Chem 17(13):1317-24. Review. 2010
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| 24 | BSVD, COL4A1
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| Ophthalmological features associated with COL4A1 mutations.
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| Coupry I, Sibon I, Mortemousque B, Rouanet F, Mine M, Goizet C.
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| Arch Ophthalmol 128(4):483-9. doi: 10.1001/archophthalmol.2010.42.
2010
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| 25 | COL4A1, PRCF
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| A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.
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| Shah S, Kumar Y, McLean B, Churchill A, Stoodley N, Rankin J, Rizzu P, van der Knaap M, Jardine P.
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| Eur J Paediatr Neurol ur J Paediatr Neurol. 2009 May 28. [Epub ahead of print]
2009
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| 26 | COL4A1, HANAC
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| Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.
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| Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P.
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| Neurology 73(22):1873-82.PMID: 19949034 2009
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| 27 | COL4A1
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| FAK and p38-MAP kinase-dependent activation of apoptosis and caspase-3 in retinal endothelial cells by alpha1(IV)NC1.
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| Boosani CS, Nalabothula N, Munugalavadla V, Cosgrove D, Keshamoun VG, Sheibani N, Sudhakar A.
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| Invest Ophthalmol Vis Sci. 50(10):4567-75 2009
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| 28 | COL4A1, HANAC
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| Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene
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| Ronco P, Plaisier E.
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| Bull Acad Natl Med 192(5):971-84; discussion 984-6. French.
2008
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| 29 | COL4A1, HANAC
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| Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis.
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| Gould DB, Marchant JK, Savinova OV, Smith RS, John SW.
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| Hum Mol Genet 16(7):798-807. Epub 2007 Feb 22.
2007
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| 30 | COL4A1, HANAC
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| COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
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| Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P.
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| N Engl J Med 357(26):2687-95.
2007
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| 31 | COL4A1, HANAC, PRCF
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| Clinical and brain MRI follow-up study of a family with COL4A1 mutation.
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| Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser MG.
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| Neurology 69(16):1564-8.
2007
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| 32 | COL4A1, HANAC, PRCF
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| COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
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| Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C.
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| Ann Neurol 62(2):177-84.
2007
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| 33 | BSVD, COL4A1
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| COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
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| Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C.
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| Ann Neurol 62(2):177-84.
2007
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| 34 | COL4A1, PRCF
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| Role of COL4A1 in small-vessel disease and hemorrhagic stroke.
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| Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SW.
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| N Engl J Med 354(14):1489-96. 2006
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| 35 | COL4A1, PRCF
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| Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.
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| Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM.
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| J Med Genet 43(6):490-5. Epub 2005 Aug 17. 2006
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| 36 | COL4A1
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| Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.
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| Van Agtmael T, Schlotzer-Schrehardt U, McKie L, Brownstein DG, Lee AW, Cross SH, Sado Y, Mullins JJ, Poschl E, Jackson IJ.
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| Hum Mol Genet 14(21):3161-8. Epub 2005 Sep 13. 2005
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| 37 | COL4A1, PRCF
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| Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
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| Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW.
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| Science 308(5725):1167-71. 2005
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| 38 | COL4A1, HANAC
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| Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome.
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| Plaisier E, Alamowitch S, Gribouval O, Mougenot B, Gaudric A, Antignac C, Roullet E, Ronco P.
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| Kidney Int 67(6):2354-60.
2005
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| 39 | COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
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| Expression of the alpha1-alpha6 collagen IV chains in the dermoepidermal junction during human foetal skin development : temporal and spatial expression of the alpha4 collagen IV chain in an early stage of development.
|
| Tanaka N, et al.
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| Br J Dermatol 139 : 371-374. 1998
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| 40 | ATS1, ATS2, ATSDL, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
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| The clinical spectrum of type IV collagen mutations.
|
| Lemmink HH, Schroder CH, Monnens LA, Smeets HJ.
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| Hum Mutat 9(6):477-99. Review. 1997
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| 41 | COL4A1, COL4A5, COL4A6
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| Comparative distribution of the alpha1(IV), alpha5(IV) and alpha6(IV) collagen chains in normal human adult and fetal tissues and in Kidneys from X-linked Alport syndrome patients.
|
| Peissel B, et al.
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| J Clin Invest 96 : 1948-1957. 1995
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| 42 | COL4A1
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| Structure of the human type IV collagen genes.
|
| Tryggvason K, Soininen R, Hostikka SL, Ganguly A, Huotari M, Prockop DJ.
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| Ann N Y Acad Sci 580:97-111. Review. No abstract available. PMID: 2186699 1990
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| 43 | COL4A1, COL4A2
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| The genes coding for human pro îI(IV) collagen and pro î2(IV) collagen are both located at the end of the long arm of chromosome 13.
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| Boyd CD, et al.
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| Am J Hum Genet 42 : 309-314. 1988
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| 44 | COL4A1, COL4A2
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| The genes for the î1(IV) and î2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure.
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| Pschl E, et al.
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| EMBO J 7 : 2687-2695. 1988
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| 45 | COL4A1, COL4A2
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| Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.
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| Cutting GR, et al.
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| Genomics 3 : 256-263. 1988
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| 46 | COL4A1, COL4A2
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| Molecular cloning and chromosomal localization of the human 2(IV) collagen chain.
|
| Killen PD, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 639. 1987
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| 47 | COL4A1, COL4A2, D13S3
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| Linkage of markers at 13q34; the pro alpha 1 (IV) and pro alpha 2 (IV) collagen genes and D13S3.
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| Bowcock AM, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 585. 1987
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| 48 | COL4A1, COL4A2
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| Macrorestriction analysis maps COL4A1 and COL4A2 collagen genes within a 400 KB region on chromosome 13q34.
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| Cutting GR, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 601. 1987
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| 49 | COL4A1, COL4A2
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| The genes coding for human pro î-1(IV) (COL4A1) and pro î-2(IV) (COL4A2) collagen are both located at the terminal end of the long arm of chromosome 13.
|
| Gadi IK, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 617. 1987
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| 50 | COL4A1, COL4A2
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| The human alpha2(IV) collagen gene, COL4A2, is syntenic with the alpha1(IV) gene, COL4A1, on chromosome 13.
|
| Solomon E, et al.
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| Ann Hum Genet 51 : 125-127. 1987
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| 51 | COL4A1, COL4A2
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| A HindIII polymorphism in the 3' end of the human 01(IV) collagen gene.
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| Tikka L, et al.
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| Nucleic Acids Res 15 : 5497. 1987
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| 52 | COL4A1, COL4A2, D13S3
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| The pro alpha 1 (IV) collagen gene is linked to the D13S3 locus at the distal end of human chromosome 13q.
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| Bowcock AM, et al.
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| Cytogenet Cell Genet 45 : 234-236. 1987
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| 53 | COL4A1, COL4A2
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| Partial structure of the human î2(IV) collagen chain and chromosomal localization of the gene (COL4A2).
|
| Killen PD, et al.
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| Hum Genet 77 : 318-324. 1987
|
| 54 | COL4A1, COL4A2
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| Human collagen genes encoding basement menbrane alpha1(IV) and alpha2(IV) chains map to the distal long arm of chromosome 13.
|
| Griffin CA, et al.
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| Proc Natl Acad Sci U S A 84 : 512-516. 1987
|
| 55 | COL4A1, COL4A2
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| Localization of the human procollagen alpha1(IV) gene to chromosome 13q34 by in situ hybridization.
|
| Emanuel BS, et al.
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| Am J Hum Genet 38 : 38-44. 1986
|
| 56 | COL4A1, COL4A2
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| The single copy gene coding for human alpha1(IV) procollagen is located at the terminal end of the long arm of chromosome 13.
|
| Boyd CD, et al.
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| Hum Genet 74 : 121-125. 1986
|
| 57 | COL1A2, COL4A1, COL4A2
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| Chromosomal mapping of collagen-genes by low stringency in situ hybridization.
|
| Retief AE, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 730. 1985
|
| 58 | COL3A1, COL4A1, COL4A2
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| Chromosomal assignments of the genes coding for human types II, III and IV collagen : a dispersed gene family.
|
| Solomon E, et al.
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| Proc Natl Acad Sci U S A 82 : 3330-3334. 1985
|
| 59 | COL3A1, COL4A1, COL4A2
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| Human type III collagen (COL3A1) is on chromosome 2 and type IVcollagen (COL4A1) on chromosome 13.
|
| Solomon E, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 749. 1985
|