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Results: 1 to 20 of 96

1.

Mutations in LRPAP1 are associated with severe myopia in humans.

Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS.

Am J Hum Genet. 2013 Aug 8;93(2):313-20. doi: 10.1016/j.ajhg.2013.06.002. Epub 2013 Jul 3.

PMID:
23830514
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Regulation of scleral cell contraction by transforming growth factor-beta and stress: competing roles in myopic eye growth.

Jobling AI, Gentle A, Metlapally R, McGowan BJ, McBrien NA.

J Biol Chem. 2009 Jan 23;284(4):2072-9. doi: 10.1074/jbc.M807521200. Epub 2008 Nov 14.

PMID:
19011237
[PubMed - indexed for MEDLINE]
Free Article
3.

Isoform-specific changes in scleral transforming growth factor-beta expression and the regulation of collagen synthesis during myopia progression.

Jobling AI, Nguyen M, Gentle A, McBrien NA.

J Biol Chem. 2004 Apr 30;279(18):18121-6. Epub 2004 Jan 28.

PMID:
14752095
[PubMed - indexed for MEDLINE]
Free Article
4.

Exome sequencing identified new mutations in a Marfan syndrome family.

Li G, Yu J, Wang K, Wang B, Wang M, Zhang S, Qin S, Yu Z.

Diagn Pathol. 2014 Jan 31;9:25. doi: 10.1186/1746-1596-9-25.

PMID:
24484584
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.

Zhao F, Pan X, Zhao K, Zhao C.

Mol Vis. 2013 Apr 5;19:751-8. Print 2013.

PMID:
23592911
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Exome sequencing identifies ZNF644 mutations in high myopia.

Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z.

PLoS Genet. 2011 Jun;7(6):e1002084. doi: 10.1371/journal.pgen.1002084. Epub 2011 Jun 9.

PMID:
21695231
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.

Zhang L, Gao LG, Zhang M, Zhou XL.

Mol Vis. 2012;18:55-63. Epub 2012 Jan 11.

PMID:
22259224
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Low density lipoprotein receptor-related protein 1 modulates the proliferation and migration of human hepatic stellate cells.

Llorente-Cortes V, Barbarigo V, Badimon L.

J Cell Physiol. 2012 Oct;227(10):3528-33. doi: 10.1002/jcp.24080.

PMID:
22392894
[PubMed - indexed for MEDLINE]
9.

The TGFbeta1 gene codon 10 polymorphism contributes to the genetic predisposition to high myopia.

Lin HJ, Wan L, Tsai Y, Tsai YY, Fan SS, Tsai CH, Tsai FJ.

Mol Vis. 2006 Jun 21;12:698-703.

PMID:
16807529
[PubMed - indexed for MEDLINE]
Free Article
10.

Regulation of scleral metabolism in myopia and the role of transforming growth factor-beta.

McBrien NA.

Exp Eye Res. 2013 Sep;114:128-40. doi: 10.1016/j.exer.2013.01.014. Epub 2013 Feb 8. Review.

PMID:
23399866
[PubMed - indexed for MEDLINE]
11.

Transforming growth factor-beta in the chicken fundal layers: an immunohistochemical study.

Mathis U, Schaeffel F.

Exp Eye Res. 2010 Jun;90(6):780-90. doi: 10.1016/j.exer.2010.03.014. Epub 2010 Mar 27.

PMID:
20350541
[PubMed - indexed for MEDLINE]
12.

Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia.

Scavello GS, Paluru PC, Ganter WR, Young TL.

Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2091-7.

PMID:
15223781
[PubMed - indexed for MEDLINE]
Free Article
13.

Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.

Fan Q, Barathi VA, Cheng CY, Zhou X, Meguro A, Nakata I, Khor CC, Goh LK, Li YJ, Lim W, Ho CE, Hawthorne F, Zheng Y, Chua D, Inoko H, Yamashiro K, Ohno-Matsui K, Matsuo K, Matsuda F, Vithana E, Seielstad M, Mizuki N, Beuerman RW, Tai ES, Yoshimura N, Aung T, Young TL, Wong TY, Teo YY, Saw SM.

PLoS Genet. 2012;8(6):e1002753. doi: 10.1371/journal.pgen.1002753. Epub 2012 Jun 7.

PMID:
22685421
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Fibrillin in Marfan syndrome and tight skin mice provides new insights into transforming growth factor-beta regulation and systemic sclerosis.

Lemaire R, Bayle J, Lafyatis R.

Curr Opin Rheumatol. 2006 Nov;18(6):582-7. Review.

PMID:
17053502
[PubMed - indexed for MEDLINE]
15.

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T.

Eur J Hum Genet. 2001 Jan;9(1):13-21.

PMID:
11175294
[PubMed - indexed for MEDLINE]
Free Article
16.

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC.

Am J Hum Genet. 1998 Dec;63(6):1703-11.

PMID:
9837823
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Sclera-related gene polymorphisms in high myopia.

Lin HJ, Wan L, Tsai Y, Liu SC, Chen WC, Tsai SW, Tsai FJ.

Mol Vis. 2009 Aug 20;15:1655-63.

PMID:
19710942
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Retinal and choroidal TGF-beta in the tree shrew model of myopia: isoform expression, activation and effects on function.

Jobling AI, Wan R, Gentle A, Bui BV, McBrien NA.

Exp Eye Res. 2009 Mar;88(3):458-66. doi: 10.1016/j.exer.2008.10.022. Epub 2008 Nov 12.

PMID:
19046968
[PubMed - indexed for MEDLINE]
19.

Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia.

Zhou J, Young TL.

Gene. 2005 Jun 6;352:10-9.

PMID:
15862761
[PubMed - indexed for MEDLINE]
20.

Clinical characterisation of the CABP4-related retinal phenotype.

Khan AO, Alrashed M, Alkuraya FS.

Br J Ophthalmol. 2013 Mar;97(3):262-5. doi: 10.1136/bjophthalmol-2012-302186. Epub 2012 Oct 25.

PMID:
23099293
[PubMed - indexed for MEDLINE]

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