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Items: 1 to 20 of 239

1.

Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.

Lu Y, Ren X, Wang Y, Li T, Li F, Wang S, Xu C, Wu G, Li H, Li G, Zhao F, Wang Z, Mo X, Han J.

Clin Endocrinol (Oxf). 2014 Apr;80(4):524-31. doi: 10.1111/cen.12354. Epub 2014 Jan 12.

PMID:
24147872
2.

Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta.

Pace JM, Wiese M, Drenguis AS, Kuznetsova N, Leikin S, Schwarze U, Chen D, Mooney SH, Unger S, Byers PH.

J Biol Chem. 2008 Jun 6;283(23):16061-7. doi: 10.1074/jbc.M801982200. Epub 2008 Mar 27.

3.

The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

Zhang ZL, Zhang H, Ke YH, Yue H, Xiao WJ, Yu JB, Gu JM, Hu WW, Wang C, He JW, Fu WZ.

J Bone Miner Metab. 2012 Jan;30(1):69-77. doi: 10.1007/s00774-011-0284-6. Epub 2011 Jun 14.

PMID:
21667357
4.

A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.

Xia XY, Cui YX, Huang YF, Pan LJ, Yang B, Wang HY, Li XJ, Shi YC, Lu HY, Zhou YC.

Clin Chim Acta. 2008 Dec;398(1-2):148-51. doi: 10.1016/j.cca.2008.07.030. Epub 2008 Aug 5.

PMID:
18755172
5.

Mutations in COL1A1 of type I collagen genes in Chinese patients with osteogenesis imperfecta.

Wang Z, Yang Z, Ke Z, Yang S, Shi H, Wang L.

J Investig Med. 2009 Jun;57(5):662-7. doi: 10.2310/JIM.0b013e3181a8d514.

PMID:
19491628
7.

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.

Hartikka H, Kuurila K, Körkkö J, Kaitila I, Grénman R, Pynnönen S, Hyland JC, Ala-Kokko L.

Hum Mutat. 2004 Aug;24(2):147-54. Erratum in: Hum Mutat. 2004 Nov;24(5):437.

PMID:
15241796
8.

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure.

Symoens S, Hulmes DJ, Bourhis JM, Coucke PJ, De Paepe A, Malfait F.

Hum Mutat. 2014 Nov;35(11):1330-41. doi: 10.1002/humu.22677. Epub 2014 Oct 18.

PMID:
25146735
9.

[Analysis of type IV osteogenesis imperfecta caused by two mutations occurred simultaneously in COL1A1 gene in a Chinese child].

Ju M, Zhang T, Bai X, Ren X, Li K, Li G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):140-4. doi: 10.3760/cma.j.issn.1003-9406.2016.02.003. Chinese.

PMID:
27060301
10.

Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.

Zhang H, Yue H, Wang C, Hu W, Gu J, He J, Fu W, Hu Y, Li M, Zhang Z.

Mol Med Rep. 2016 Nov;14(5):4918-4926. doi: 10.3892/mmr.2016.5835. Epub 2016 Oct 12.

PMID:
27748872
11.

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta.

Xu Z, Li Y, Zhang X, Zeng F, Yuan M, Liu M, Wang QK, Liu JY.

J Genet Genomics. 2011 Apr 20;38(4):149-56. doi: 10.1016/j.jgg.2011.03.002. Epub 2011 Mar 24.

PMID:
21530898
12.

[Gene mutation analysis of a Chinese family with osteogenesis imperfecta].

Wang Z, Xu DL, Hu JY, Liao YH, Yang Z, Liang Q, Wang LT.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Apr;23(2):192-4. Chinese.

PMID:
16604495
13.

Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant.

Takagi M, Hori N, Chinen Y, Kurosawa K, Tanaka Y, Oku K, Sakata H, Fukuzawa R, Nishimura G, Spranger J, Hasegawa T.

Am J Med Genet A. 2011 Sep;155A(9):2269-73. doi: 10.1002/ajmg.a.34152. Epub 2011 Aug 10.

PMID:
21834035
14.

Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

Lee KS, Song HR, Cho TJ, Kim HJ, Lee TM, Jin HS, Park HY, Kang S, Jung SC, Koo SK.

Hum Mutat. 2006 Jun;27(6):599.

PMID:
16705691
15.

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

Hruskova L, Fijalkowski I, Van Hul W, Marik I, Mortier G, Martasek P, Mazura I.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Sep;160(3):442-7. doi: 10.5507/bp.2016.022. Epub 2016 Apr 27.

16.

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

Lindahl K, Barnes AM, Fratzl-Zelman N, Whyte MP, Hefferan TE, Makareeva E, Brusel M, Yaszemski MJ, Rubin CJ, Kindmark A, Roschger P, Klaushofer K, McAlister WH, Mumm S, Leikin S, Kessler E, Boskey AL, Ljunggren O, Marini JC.

Hum Mutat. 2011 Jun;32(6):598-609. doi: 10.1002/humu.21475. Epub 2011 Apr 7.

17.

A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.

Xia XY, Li WW, Li N, Wu QY, Cui YX, Li XJ.

Mol Med Rep. 2014 Jun;9(6):2187-90. doi: 10.3892/mmr.2014.2084. Epub 2014 Mar 28.

PMID:
24682174
18.

Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC.

J Biol Chem. 2005 May 13;280(19):19259-69. Epub 2005 Feb 22.

19.

Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation.

Balasubramanian M, Sobey GJ, Wagner BE, Peres LC, Bowen J, Bexon J, Javaid MK, Arundel P, Bishop NJ.

Ultrastruct Pathol. 2016;40(2):71-6. doi: 10.3109/01913123.2016.1140253. Epub 2016 Feb 10.

PMID:
26863094
20.

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

Peng H, Zhang Y, Long Z, Zhao D, Guo Z, Xue J, Xie Z, Xiong Z, Xu X, Su W, Wang B, Xia K, Hu Z.

Gene. 2012 Jul 10;502(2):168-71. doi: 10.1016/j.gene.2012.04.023. Epub 2012 Apr 29.

PMID:
22565191

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