263 related articles for article (PubMed ID: 23830514)
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; 93(2):313-20. PubMed ID: 23830514
[TBL] [Abstract][Full Text] [Related]
2. Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
Jiang D; Li J; Xiao X; Li S; Jia X; Sun W; Guo X; Zhang Q
Invest Ophthalmol Vis Sci; 2014 Dec; 56(1):339-45. PubMed ID: 25525168
[TBL] [Abstract][Full Text] [Related]
3. Lrpap1 deficiency leads to myopia through TGF-β-induced apoptosis in zebrafish.
Liu S; Chen T; Chen B; Liu Y; Lu X; Li J
Cell Commun Signal; 2022 Oct; 20(1):162. PubMed ID: 36261846
[TBL] [Abstract][Full Text] [Related]
4. Chondrogenesis in scleral stem/progenitor cells and its association with form-deprived myopia in mice.
Wu PC; Tsai CL; Gordon GM; Jeong S; Itakura T; Patel N; Shi S; Fini ME
Mol Vis; 2015; 21():138-47. PubMed ID: 25684979
[TBL] [Abstract][Full Text] [Related]
5. Rhegmatogenous Retinal Detachment in Nonsyndromic High Myopia Associated with Recessive Mutations in LRPAP1.
Magliyah MS; Alsulaiman SM; Nowilaty SR; Alkuraya FS; Schatz P
Ophthalmol Retina; 2020 Jan; 4(1):77-83. PubMed ID: 31607522
[TBL] [Abstract][Full Text] [Related]
6. SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia.
Guo H; Jin X; Zhu T; Wang T; Tong P; Tian L; Peng Y; Sun L; Wan A; Chen J; Liu Y; Li Y; Tian Q; Xia L; Zhang L; Pan Y; Lu L; Liu Q; Shen L; Li Y; Xiong W; Li J; Tang B; Feng Y; Zhang X; Zhang Z; Pan Q; Hu Z; Xia K
J Med Genet; 2014 Aug; 51(8):518-25. PubMed ID: 24891338
[TBL] [Abstract][Full Text] [Related]
7. 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; 284(4):2072-9. PubMed ID: 19011237
[TBL] [Abstract][Full Text] [Related]
8. 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; 279(18):18121-6. PubMed ID: 14752095
[TBL] [Abstract][Full Text] [Related]
9. Genetic and clinical landscape of
Wang Y; Xiao X; Li X; Yi Z; Jiang Y; Zhang F; Zhou L; Li S; Jia X; Sun W; Wang P; Zhang Q
Br J Ophthalmol; 2023 Oct; 107(10):1545-1553. PubMed ID: 36180177
[TBL] [Abstract][Full Text] [Related]
10. Scleral HIF-1α is a prominent regulatory candidate for genetic and environmental interactions in human myopia pathogenesis.
Zhao F; Zhang D; Zhou Q; Zhao F; He M; Yang Z; Su Y; Zhai Y; Yan J; Zhang G; Xue A; Tang J; Han X; Shi Y; Zhu Y; Liu T; Zhuang W; Huang L; Hong Y; Wu D; Li Y; Lu Q; Chen W; Jiao S; Wang Q; Srinivasalu N; Wen Y; Zeng C; Qu J; Zhou X
EBioMedicine; 2020 Jul; 57():102878. PubMed ID: 32652319
[TBL] [Abstract][Full Text] [Related]
11. GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
Patel N; Shamseldin HE; Sakati N; Khan AO; Softa A; Al-Fadhli FM; Hashem M; Abdulwahab FM; Alshidi T; Alomar R; Alobeid E; Wakil SM; Colak D; Alkuraya FS
Am J Hum Genet; 2017 May; 100(5):831-836. PubMed ID: 28475863
[TBL] [Abstract][Full Text] [Related]
12. Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.
Feng CY; Huang XQ; Cheng XW; Wu RH; Lu F; Jin ZB
Sci Rep; 2017 Apr; 7(1):1120. PubMed ID: 28442722
[TBL] [Abstract][Full Text] [Related]
13. Macrophage LRP1 suppresses neo-intima formation during vascular remodeling by modulating the TGF-β signaling pathway.
Muratoglu SC; Belgrave S; Lillis AP; Migliorini M; Robinson S; Smith E; Zhang L; Strickland DK
PLoS One; 2011; 6(12):e28846. PubMed ID: 22174911
[TBL] [Abstract][Full Text] [Related]
14. Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.
Jin ZB; Wu J; Huang XF; Feng CY; Cai XB; Mao JY; Xiang L; Wu KC; Xiao X; Kloss BA; Li Z; Liu Z; Huang S; Shen M; Cheng FF; Cheng XW; Zheng ZL; Chen X; Zhuang W; Zhang Q; Young TL; Xie T; Lu F; Qu J
Proc Natl Acad Sci U S A; 2017 Apr; 114(16):4219-4224. PubMed ID: 28373534
[TBL] [Abstract][Full Text] [Related]
15. Regulation of scleral metabolism in myopia and the role of transforming growth factor-beta.
McBrien NA
Exp Eye Res; 2013 Sep; 114():128-40. PubMed ID: 23399866
[TBL] [Abstract][Full Text] [Related]
16. Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.
Verstraeten A; Alaerts M; Van Laer L; Loeys B
Hum Mutat; 2016 Jun; 37(6):524-31. PubMed ID: 26919284
[TBL] [Abstract][Full Text] [Related]
17. Clinical Characterization of LRPAP1-Related Pediatric High Myopia.
Khan AO; Aldahmesh MA; Alkuraya FS
Ophthalmology; 2016 Feb; 123(2):434-435. PubMed ID: 26271838
[No Abstract] [Full Text] [Related]
18. TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome.
Ng CM; Cheng A; Myers LA; Martinez-Murillo F; Jie C; Bedja D; Gabrielson KL; Hausladen JM; Mecham RP; Judge DP; Dietz HC
J Clin Invest; 2004 Dec; 114(11):1586-92. PubMed ID: 15546004
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.
Kuechler A; Altmüller J; Nürnberg P; Kotthoff S; Kubisch C; Borck G
Mol Cell Probes; 2015 Oct; 29(5):330-4. PubMed ID: 26184463
[TBL] [Abstract][Full Text] [Related]
20. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
Arno G; Hull S; Robson AG; Holder GE; Cheetham ME; Webster AR; Plagnol V; Moore AT
Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2358-65. PubMed ID: 25766589
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]