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Results: 1 to 20 of 115

Similar articles for PubMed (Select 22209246)

1.

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

Yoneda Y, Haginoya K, Arai H, Yamaoka S, Tsurusaki Y, Doi H, Miyake N, Yokochi K, Osaka H, Kato M, Matsumoto N, Saitsu H.

Am J Hum Genet. 2012 Jan 13;90(1):86-90. doi: 10.1016/j.ajhg.2011.11.016. Epub 2011 Dec 29.

2.

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM.

Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.

3.

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
4.

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM.

J Med Genet. 2006 Jun;43(6):490-5. Epub 2005 Aug 17.

5.

Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.

Van Agtmael T, Schlötzer-Schrehardt U, McKie L, Brownstein DG, Lee AW, Cross SH, Sado Y, Mullins JJ, Pöschl E, Jackson IJ.

Hum Mol Genet. 2005 Nov 1;14(21):3161-8. Epub 2005 Sep 13.

6.

Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.

Murray LS, Lu Y, Taggart A, Van Regemorter N, Vilain C, Abramowicz M, Kadler KE, Van Agtmael T.

Hum Mol Genet. 2014 Jan 15;23(2):283-92. doi: 10.1093/hmg/ddt418. Epub 2013 Sep 2.

8.

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.

Gunda B, Mine M, Kovács T, Hornyák C, Bereczki D, Várallyay G, Rudas G, Audrezet MP, Tournier-Lasserve E.

J Neurol. 2014 Mar;261(3):500-3. doi: 10.1007/s00415-013-7224-4. Epub 2014 Jan 5.

PMID:
24390199
9.

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW.

Science. 2005 May 20;308(5725):1167-71.

10.

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.

Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P.

Am J Med Genet A. 2010 Oct;152A(10):2550-5. doi: 10.1002/ajmg.a.33659.

PMID:
20818663
11.

Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.

Persikov AV, Pillitteri RJ, Amin P, Schwarze U, Byers PH, Brodsky B.

Hum Mutat. 2004 Oct;24(4):330-7.

PMID:
15365990
12.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
13.

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Jeanne M, Labelle-Dumais C, Jorgensen J, Kauffman WB, Mancini GM, Favor J, Valant V, Greenberg SM, Rosand J, Gould DB.

Am J Hum Genet. 2012 Jan 13;90(1):91-101. doi: 10.1016/j.ajhg.2011.11.022. Epub 2011 Dec 29.

14.

Role of COL4A1 in basement-membrane integrity and cerebral small-vessel disease. The COL4A1 stroke syndrome.

Volonghi I, Pezzini A, Del Zotto E, Giossi A, Costa P, Ferrari D, Padovani A.

Curr Med Chem. 2010;17(13):1317-24. Review.

PMID:
20166936
15.

Childhood presentation of COL4A1 mutations.

Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P.

Dev Med Child Neurol. 2012 Jun;54(6):569-74. doi: 10.1111/j.1469-8749.2011.04198.x. Epub 2012 Jan 16. Review.

PMID:
22574627
16.

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Karolak JA, Kulinska K, Nowak DM, Pitarque JA, Molinari A, Rydzanicz M, Bejjani BA, Gajecka M.

Mol Vis. 2011 Mar 30;17:827-43.

17.

A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

Değerliyurt A, Ceylaner G, Koçak H, Bilginer Gürbüz B, Cihan BS, Rizzu P, Ceylaner S.

Genet Couns. 2012;23(2):185-93.

PMID:
22876576
18.

Folding delay and structural perturbations caused by type IV collagen natural interruptions and nearby Gly missense mutations.

Hwang ES, Brodsky B.

J Biol Chem. 2012 Feb 3;287(6):4368-75. doi: 10.1074/jbc.M111.269084. Epub 2011 Dec 16.

19.

Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?

Zhang KW, Tonna S, Wang YY, Rana K, Padavarat S, Savige J.

Pediatr Nephrol. 2007 May;22(5):645-51. Epub 2007 Jan 10.

PMID:
17216253
20.

Drosophila basement membrane collagen col4a1 mutations cause severe myopathy.

Kelemen-Valkony I, Kiss M, Csiha J, Kiss A, Bircher U, Szidonya J, Maróy P, Juhász G, Komonyi O, Csiszár K, Mink M.

Matrix Biol. 2012 Jan;31(1):29-37. doi: 10.1016/j.matbio.2011.09.004. Epub 2011 Oct 18.

PMID:
22037604
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