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Items: 1 to 20 of 286

1.

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U.

Am J Med Genet A. 2017 Sep;173(9):2534-2538. doi: 10.1002/ajmg.a.38345. Epub 2017 Jul 25.

PMID:
28742248
2.

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.

Cortini F, Marinelli B, Romi S, Seresini A, Pesatori AC, Seia M, Montano N, Bassotti A.

Vasc Endovascular Surg. 2017 Apr;51(3):141-145. doi: 10.1177/1538574417692114. Epub 2017 Feb 9.

PMID:
28183226
3.

Collagen type III α1 as a useful diagnostic immunohistochemical marker for fibroepithelial lesions of the breast.

Wang Y, Resnick MB, Lu S, Hui Y, Brodsky AS, Yang D, Yakirevich E, Wang L.

Hum Pathol. 2016 Nov;57:176-181. doi: 10.1016/j.humpath.2016.07.017. Epub 2016 Aug 3.

PMID:
27498063
4.

Dietary fructose intake in obese children and adolescents: relation to procollagen type III N-terminal peptide (P3NP) and non-alcoholic fatty liver disease.

Hamza RT, Ahmed AY, Rezk DG, Hamed AI.

J Pediatr Endocrinol Metab. 2016 Dec 1;29(12):1345-1352. doi: 10.1515/jpem-2016-0015.

PMID:
27442361
5.

Epithelial but not stromal expression of collagen alpha-1(III) is a diagnostic and prognostic indicator of colorectal carcinoma.

Wang XQ, Tang ZX, Yu D, Cui SJ, Jiang YH, Zhang Q, Wang J, Yang PY, Liu F.

Oncotarget. 2016 Feb 23;7(8):8823-38. doi: 10.18632/oncotarget.6815.

6.

Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.

Makrygiannis G, Loeys B, Defraigne JO, Sakalihasan N.

Eur J Med Genet. 2015 Nov;58(11):634-6. doi: 10.1016/j.ejmg.2015.10.009. Epub 2015 Oct 21.

7.

Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.

Stembridge NS, Vandersteen AM, Ghali N, Sawle P, Nesbitt M, Pollitt RC, Ferguson DJ, Holden S, Elmslie F, Henderson A, Hulmes DJ, Pope FM.

Am J Med Genet A. 2015 Aug;167A(8):1763-72. doi: 10.1002/ajmg.a.37081. Epub 2015 Apr 5.

PMID:
25846194
8.

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X.

Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11.

9.

The N-terminal propeptide of type III procollagen in patients with acute coronary syndrome: a link between left ventricular end-diastolic pressure and cardiovascular events.

Lee CH, Lee WC, Chang SH, Wen MS, Hung KC.

PLoS One. 2015 Jan 5;10(1):e114097. doi: 10.1371/journal.pone.0114097. eCollection 2015.

10.

Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family.

He F, Wang X, Cai X, Peng H, Zhang L, Zhu T, Xia K, Pan Q, Hu Z.

J Dermatol. 2015 Jan;42(1):95-6. doi: 10.1111/1346-8138.12696. Epub 2014 Nov 25. No abstract available.

PMID:
25420629
11.

High-level secretory expression and purification of unhydroxylated human collagen α1(III) chain in Pichia pastoris GS115.

Li L, Fan D, Ma X, Deng J, He J.

Biotechnol Appl Biochem. 2015 Jul-Aug;62(4):467-75. doi: 10.1002/bab.1297. Epub 2015 Jan 5.

PMID:
25231012
12.

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH.

Genet Med. 2014 Dec;16(12):881-8. doi: 10.1038/gim.2014.72. Epub 2014 Jun 12.

PMID:
24922459
13.

Collagen type III alpha 1 polymorphism (rs1800255, COL3A1 2209 G>A) assessed with high-resolution melting analysis is not associated with pelvic organ prolapse in the Dutch population.

Lince SL, van Kempen LC, Dijkstra JR, IntHout J, Vierhout ME, Kluivers KB.

Int Urogynecol J. 2014 Sep;25(9):1237-42. doi: 10.1007/s00192-014-2385-y. Epub 2014 Apr 24.

PMID:
24760181
14.

Variants of COL3A1 are associated with the risk of stroke recurrence and prognosis in the Chinese population: a prospective study.

Lv W, Lin Y, Song W, Sun K, Yu H, Zhang Y, Zhang C, Li L, Suo M, Hui R, Chen J.

J Mol Neurosci. 2014 Jun;53(2):196-203. doi: 10.1007/s12031-014-0283-x. Epub 2014 Mar 25.

PMID:
24664438
15.

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.

Shalhub S, Black JH 3rd, Cecchi AC, Xu Z, Griswold BF, Safi HJ, Milewicz DM, McDonnell NB.

J Vasc Surg. 2014 Jul;60(1):160-9. doi: 10.1016/j.jvs.2014.01.070. Epub 2014 Mar 18.

16.
17.

Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1.

Wendorff H, Pelisek J, Zimmermann A, Mayer K, Seidel H, Weirich G, Hausser I, Siegel C, Zernecke A, Eckstein HH.

Cardiovasc Pathol. 2013 Nov-Dec;22(6):488-92. doi: 10.1016/j.carpath.2013.04.003. Epub 2013 May 17.

PMID:
23688910
18.

Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.

Mizuno K, Boudko S, Engel J, Bächinger HP.

J Biol Chem. 2013 Jun 28;288(26):19166-76. doi: 10.1074/jbc.M113.462002. Epub 2013 May 3.

19.

A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms.

Chen J, Zhu Y, Jiang Y, Yu H, Sun K, Song W, Luan L, Lou K, Li Y, Jiang P, Pang Q, Hui R.

Hum Genet. 2012 Jul;131(7):1137-43. doi: 10.1007/s00439-012-1138-6. Epub 2012 Jan 13.

PMID:
22241462
20.

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.

Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, Nicolazzi MA, Musumeci A, Penco S, Buscemi L, Crivelli S, Danesino C, Clementi M, Calzavara-Pinton P, Viglio S, Valli M, Barlati S, Colombi M.

J Dermatol Sci. 2011 Dec;64(3):237-40. doi: 10.1016/j.jdermsci.2011.09.002. Epub 2011 Sep 24. No abstract available. Erratum in: J Dermatol Sci. 2012 Jan;65(1):77.

PMID:
22019127

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