| 1 | BRKS2, PLOD2
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| Phenotypic Consequences of PLOD2 Mutations in Bruck Syndrome Inform a Collagen Lysyl Hydroxylase Crystal Structure.
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| Guo HF, Kurie J.
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| J Bone Miner Res Bone Miner Res. 2018 Jun 7. doi: 10.1002/jbmr.3459. [Epub ahead of print] No abstract available.
2018
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| 2 | BRKS2, PLOD2
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| Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information.
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| Tham E, Grigelionis G, Hammarsjö A, Grigelioniene G.
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| J Bone Miner Res Bone Miner Res. 2018 Jun 7. doi: 10.1002/jbmr.3460. [Epub ahead of print] No abstract available.
2018
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| 3 | BRKS2, PLOD2
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| Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
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| Leal GF, Nishimura G, Voss U, Bertola DR, Ĺström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E.
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| J Bone Miner Res 33(4):753-760. doi: 10.1002/jbmr.3348. Epub 2018 Jan 4.
2018
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| 4 | BRKS2, PLOD2
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| Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
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| Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL.
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| Hum Mutat 33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5.
2012
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| 5 | BRKS2, PLOD2
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| Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2.
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| Hyry M, Lantto J, Myllyharju J.
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| J Biol Chem 284(45):30917-24. Epub 2009 Sep 17.
2009
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| 6 | PLOD2, BRKS2, BRKS1
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| Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.
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| Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafe L.
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| Am J Med Genet A 131A(2):115-20. 2004
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| 7 | PLOD2, BRKS2
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| Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.
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| Walker LC, Teebi AS, Marini JC, De Paepe A, Malfait F, Atsawasuwan P, Yamauchi M, Yeowell HN.
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| Mol Genet Metab 83(4):312-21. 2004
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| 8 | PLOD2, BRKS2
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| Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis.
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| van der Slot AJ, Zuurmond AM, Bardoel AF, Wijmenga C, Pruijs HE, Sillence DO, Brinckmann J, Abraham DJ, Black CM, Verzijl N, DeGroot J, Hanemaaijer R, TeKoppele JM, Huizinga TW, Bank RA.
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| J Biol Chem 278(42):40967-72. Epub 2003 Jul 24. 2003
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