| 1 | LOX, PLOD1
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| Inhibition of enzymes involved in collagen cross-linking reduces vascular smooth muscle cell calcification.
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| Jover E, Silvente A, Marín F, Martínez-González J, Orriols M, Martinez CM, Puche CM, Valdés M, Rodriguez C, Hernández-Romero D.
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| FASEB J ASEB J. 2018 Mar 16:fj201700653R. doi: 10.1096/fj.201700653R. [Epub ahead of print]
2018
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| 2 | EDS6, PLOD1
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| Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.
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| van Dijk FS, Mancini GMS, Maugeri A, Cobben JM.
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| Eur J Med Genet 60(10):536-540. doi: 10.1016/j.ejmg.2017.07.011. Epub 2017 Jul 27.
2017
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| 3 | FKBP10, PLOD1, PLOD2, PLOD3
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| Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2.
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| Gjaltema RA, van der Stoel MM, Boersema M, Bank RA.
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| Proc Natl Acad Sci U S A 113(26):7142-7. doi: 10.1073/pnas.1600074113. Epub 2016 Jun 13.
2016
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| 4 | EDS6, PLOD1
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| Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.
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| Abdalla EM, Rohrbach M, Bürer C, Kraenzlin M, El-Tayeby H, Elbelbesy MF, Nabil A, Giunta C.
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| Eur J Pediatr 174(1):105-12. doi: 10.1007/s00431-014-2429-9. Epub 2014 Oct 3.
2015
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| 5 | EDS6, PLOD1
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| A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.
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| Tosun A, Kurtgoz S, Dursun S, Bozkurt G.
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| Pediatr Neurol 51(4):566-9. doi: 10.1016/j.pediatrneurol.2014.06.020. Epub 2014 Jul 10.
2014
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| 6 | PLOD1
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| A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population.
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| Yip SP, Leung KH, Fung WY, Ng PW, Sham PC, Yap MK.
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| Mol Vis 17:810-21.
2011
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| 7 | PLOD1
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| Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese.
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| Huang QY, Li GH, Kung AW.
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| Bone 44(5):984-8. doi: 10.1016/j.bone.2009.01.368. Epub 2009 Jan 30.
2009
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| 8 | PLOD1
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| Association of candidate gene polymorphisms with bone mineral density in community-dwelling Japanese women and men.
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| Yamada Y, Ando F, Shimokata H.
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| Int J Mol Med 19(5):791-801.
2007
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| 9 | PLOD1
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| Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice.
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| Takaluoma K, Hyry M, Lantto J, Sormunen R, Bank RA, Kivirikko KI, Myllyharju J, Soininen R.
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| J Biol Chem 282(9):6588-96. Epub 2006 Dec 29.
2007
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| 10 | PLOD1
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| Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK.
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| Tasker PN, Macdonald H, Fraser WD, Reid DM, Ralston SH, Albagha OM.
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| Osteoporos Int 17(7):1078-85. Epub 2006 May 4.
2006
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| 11 | EDS6, PLOD1
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| Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
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| Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B.
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| Am J Med Genet A 133(2):158-64. 2005
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| 12 | EDS6, PLOD1
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| Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
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| Giunta C, Randolph A, Steinmann B.
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| Mol Genet Metab 86(1-2):269-76. Epub 2005 Jun 24. 2005
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| 13 | NKX2-5, NPPA, PLOD1, PITX2
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| PITX2 isoform-specific regulation of atrial natriuretic factor expression: synergism and repression with Nkx2.5.
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| Ganga M, Espinoza HM, Cox CJ, Morton L, Hjalt TA, Lee Y, Amendt BA.
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| J Biol Chem 278(25):22437-45. Epub 2003 Apr 11. 2003
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| 14 | PLOD1, PLOD2, PLOD3
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| Retrieval-independent localization of lysyl hydroxylase in the endoplasmic reticulum via a peptide fold in its iron-binding domain.
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| Suokas M, Lampela O, Juffer AH, Myllyla R, Kellokumpu S.
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| Biochem J 370(Pt 3):913-20. 2003
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| 15 | PLOD1
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| Retrieval-independent localization of lysyl hydroxylase in the endoplasmic reticulum via a peptide fold in its iron-binding domain.
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| Suokas M, Lampela O, Juffer AH, Myllylä R, Kellokumpu S.
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| Biochem J 370(Pt 3):913-20.
2003
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| 16 | EDS6, PLOD1, TLH1
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| The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine.
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| Eyre D, Shao P, Ann Weis M, Steinmann B.
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| Mol Genet Metab 76(3):211-6. 2002
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| 17 | PLOD1, PLOD2, PLOD3
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| Characterization of three fragments that constitute the monomers of the human lysyl hydroxylase isoenzymes 1-3. The 30-kDa N-terminal fragment is not required for lysyl hydroxylase activity.
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| Rautavuoma K, Takaluoma K, Passoja K, Pirskanen A, Kvist AP, Kivirikko KI, Myllyharju J.
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| J Biol Chem 277(25):23084-91. Epub 2002 Apr 15. 2002
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| 18 | EDS6, PLOD1
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| Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of ehlers-danlos syndrome type VI.
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| Yeowell HN, Walker LC.
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| Mol Genet Metab 71(1-2):212-24. 2000
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| 19 | EDS6, PLOD1
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| A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.
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| Pousi B, Hautala T, Hyland JC, Schroter J, Eckes B, Kivirikko KI, Myllyla R.
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| Hum Mutat 11(1):55-61. 1998
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| 20 | EDS6, PLOD1
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| A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI.
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| Pajunen L, Suokas M, Hautala T, Kellokumpu S, Tebbe B, Kivirikko KI, Myllyla R.
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| DNA Cell Biol 17(2):117-23. 1998
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| 21 | EDS6, PLOD1
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| Ehlers-Danlos syndrome type VI : lysyl hydroxylase deficiency due to a novel point mutation (W612C).
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| Brinckmann J, et al.
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| Arch Dermatol Res 290 : 181-186. 1998
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| 22 | EDS6, PLOD1
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| Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.
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| Heikkinen J, et al.
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| Am J Hum Genet 60 : 48-56. 1997
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| 23 | EDS6, PLOD1
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| Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI.
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| Pasquali M, et al.
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| Proc Assoc Am Physicians 109 : 33-41. 1997
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| 24 | PLOD1
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| A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.
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| Ha VT, et al.
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| J Clin Invest 93 : 1716-1721. 1994
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| 25 | PLOD1, EDS6
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| Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.
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| Pousi B, et al.
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| Am J Hum Genet 55 : 899-906. 1994
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| 26 | PLOD1, EDS6
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| Structure and expression of the human lysyl hydroxylase gene (PLOD) : introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients.
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| Heikkinen J, et al.
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| Genomics 24 : 464-471. 1994
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| 27 | PLOD1
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| Cloning of human lysyl hydroxylase : complete cDNA-derived amino acid sequence and assignment of the gene (PLOD) to chromosome 1p36.3-p36.2.
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| Hautala T, et al.
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| Genomics 13 : 62-69. 1992
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| 28 | EDS6, PLOD1
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| A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.
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| Hyland J, et al.
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| Nat Genet 2 : 228-231. 1992
|