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Items: 1 to 20 of 207

1.

Identification of COL4A1 as a potential gene conferring trastuzumab resistance in gastric cancer based on bioinformatics analysis.

Huang R, Gu W, Sun B, Gao L.

Mol Med Rep. 2018 May;17(5):6387-6396. doi: 10.3892/mmr.2018.8664. Epub 2018 Mar 1.

2.

Genetic Variations of COL4A1 Gene and Intracerebral Hemorrhage Outcome: A Cohort Study in a Chinese Han Population.

Xia C, Lin S, Yang J, He S, Li H, Liu M, You C.

World Neurosurg. 2018 May;113:e521-e528. doi: 10.1016/j.wneu.2018.02.074. Epub 2018 Feb 21.

PMID:
29477007
3.

Genetic Variations of the COL4A1 Gene and Intracerebral Hemorrhage Risk: A Case-Control Study in a Chinese Han Population.

Lin S, Xia C, He S, Yang J, Li H, Zheng J, Liu M, You C.

World Neurosurg. 2018 Apr;112:e527-e533. doi: 10.1016/j.wneu.2018.01.072. Epub 2018 Jan 31.

PMID:
29360590
4.

Building collagen IV smart scaffolds on the outside of cells.

Brown KL, Cummings CF, Vanacore RM, Hudson BG.

Protein Sci. 2017 Nov;26(11):2151-2161. doi: 10.1002/pro.3283. Review.

5.

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.

Abe Y, Matsuduka A, Okanari K, Miyahara H, Kato M, Miyatake S, Saitsu H, Matsumoto N, Tomoki M, Ihara K.

Eur J Med Genet. 2017 Mar;60(3):169-171. doi: 10.1016/j.ejmg.2016.12.008. Epub 2016 Dec 23.

PMID:
28017902
6.

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E.

Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19.

PMID:
27666438
7.

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen.

Gale DP, Oygar DD, Lin F, Oygar PD, Khan N, Connor TM, Lapsley M, Maxwell PH, Neild GH.

Nephrol Dial Transplant. 2016 Nov;31(11):1908-1914. Epub 2016 Apr 8.

8.

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

Smigiel R, Cabala M, Jakubiak A, Kodera H, Sasiadek MJ, Matsumoto N, Sasiadek MM, Saitsu H.

Birth Defects Res A Clin Mol Teratol. 2016 Apr;106(4):304-7. doi: 10.1002/bdra.23488. Epub 2016 Feb 16.

PMID:
26879631
9.

Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.

Bi D, Wang H, Shang Q, Xu Y, Wang F, Chen M, Ma C, Sun Y, Zhao X, Gao C, Wang L, Zhu C, Xing Q.

Clin Genet. 2016 Aug;90(2):149-55. doi: 10.1111/cge.12723. Epub 2016 Feb 9.

PMID:
26748532
10.

Normal immunofluorescence pattern of skin basement membranes in a family with porencephaly due to COL4A1 G749S mutation.

Gasparini S, Qualtieri A, Ferlazzo E, Cianci V, Patitucci A, Spadafora P, Aguglia U.

Neurol Sci. 2016 Mar;37(3):459-63. doi: 10.1007/s10072-015-2435-3. Epub 2015 Dec 19.

PMID:
26686511
11.

Comprehensive Characterization of Glycosylation and Hydroxylation of Basement Membrane Collagen IV by High-Resolution Mass Spectrometry.

Basak T, Vega-Montoto L, Zimmerman LJ, Tabb DL, Hudson BG, Vanacore RM.

J Proteome Res. 2016 Jan 4;15(1):245-58. doi: 10.1021/acs.jproteome.5b00767. Epub 2015 Dec 9.

12.

Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.

Takenouchi T, Ohyagi M, Torii C, Kosaki R, Takahashi T, Kosaki K.

Am J Med Genet A. 2015 Jan;167A(1):156-8. doi: 10.1002/ajmg.a.36823. Epub 2014 Nov 25.

PMID:
25425218
13.

Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.

Zenteno JC, Crespí J, Buentello-Volante B, Buil JA, Bassaganyas F, Vela-Segarra JI, Diaz-Cascajosa J, Marieges MT.

Graefes Arch Clin Exp Ophthalmol. 2014 Nov;252(11):1789-94. doi: 10.1007/s00417-014-2800-6. Epub 2014 Sep 17. Erratum in: Graefes Arch Clin Exp Ophthalmol. 2015 Aug;253(8):1417.

PMID:
25228067
14.

A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.

Xia XY, Li N, Cao X, Wu QY, Li TF, Zhang C, Li WW, Cui YX, Li XJ, Xue CY.

BMC Med Genet. 2014 Aug 15;15:97. doi: 10.1186/s12881-014-0097-2.

15.

Modulation of tumor cell stiffness and migration by type IV collagen through direct activation of integrin signaling pathway.

Chen SY, Lin JS, Yang BC.

Arch Biochem Biophys. 2014 Aug;555-556:1-8. doi: 10.1016/j.abb.2014.05.004. Epub 2014 May 10.

PMID:
24823860
16.

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV.

Clin Genet. 2014 Nov;86(5):475-81. doi: 10.1111/cge.12379. Epub 2014 Apr 12.

17.

Association of COL4A1 genetic polymorphisms with coronary artery disease in Uygur population in Xinjiang, China.

Adi D, Xie X, Ma YT, Fu ZY, Yang YN, Li XM, Xiang Y, Liu F, Chen BD.

Lipids Health Dis. 2013 Oct 25;12:153. doi: 10.1186/1476-511X-12-153.

18.

Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

Rødahl E, Knappskog PM, Majewski J, Johansson S, Telstad W, Kråkenes J, Boman H.

Am J Ophthalmol. 2013 May;155(5):946-53. doi: 10.1016/j.ajo.2012.11.028. Epub 2013 Feb 6.

PMID:
23394911
19.

Arresten, a collagen-derived angiogenesis inhibitor, suppresses invasion of squamous cell carcinoma.

Aikio M, Alahuhta I, Nurmenniemi S, Suojanen J, Palovuori R, Teppo S, Sorsa T, López-Otín C, Pihlajaniemi T, Salo T, Heljasvaara R, Nyberg P.

PLoS One. 2012;7(12):e51044. doi: 10.1371/journal.pone.0051044. Epub 2012 Dec 5.

20.

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

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.

Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7.

PMID:
23225343

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