PubMed (OMIM) for id: 5352

Year	Number of Results
1997	2
1999	2
2000	1
2003	1
2004	1
2012	1
2024	0

1

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

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. Puig-Hervás MT, et al. Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22689593

2

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.

Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafé L. Ha-Vinh R, et al. Am J Med Genet A. 2004 Dec 1;131(2):115-20. doi: 10.1002/ajmg.a.30231. Am J Med Genet A. 2004. PMID: 15523624

3

Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis.

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. van der Slot AJ, et al. J Biol Chem. 2003 Oct 17;278(42):40967-72. doi: 10.1074/jbc.M307380200. Epub 2003 Jul 24. J Biol Chem. 2003. PMID: 12881513 Free article.

4

The genes encoding mouse lysyl hydroxylase isoforms map to chromosomes 4,5, and 9.

Sipilä L, Szatanik M, Vainionpää H, Ruotsalainen H, Myllylä R, Guénet JL. Sipilä L, et al. Mamm Genome. 2000 Dec;11(12):1132-4. doi: 10.1007/s003350010214. Mamm Genome. 2000. PMID: 11130984 No abstract available.

5

Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene.

Yeowell HN, Walker LC. Yeowell HN, et al. Matrix Biol. 1999 Apr;18(2):179-87. doi: 10.1016/s0945-053x(99)00013-x. Matrix Biol. 1999. PMID: 10372558

6

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

Bank RA, Robins SP, Wijmenga C, Breslau-Siderius LJ, Bardoel AF, van der Sluijs HA, Pruijs HE, TeKoppele JM. Bank RA, et al. Proc Natl Acad Sci U S A. 1999 Feb 2;96(3):1054-8. doi: 10.1073/pnas.96.3.1054. Proc Natl Acad Sci U S A. 1999. PMID: 9927692 Free PMC article.

7

Localization of the gene encoding a novel isoform of lysyl hydroxylase.

Szpirer C, Szpirer J, Rivière M, Vanvooren P, Valtavaara M, Myllylä R. Szpirer C, et al. Mamm Genome. 1997 Sep;8(9):707-8. doi: 10.1007/s003359900549. Mamm Genome. 1997. PMID: 9271685 No abstract available.

8

Cloning and characterization of a novel human lysyl hydroxylase isoform highly expressed in pancreas and muscle.

Valtavaara M, Papponen H, Pirttilä AM, Hiltunen K, Helander H, Myllylä R. Valtavaara M, et al. J Biol Chem. 1997 Mar 14;272(11):6831-4. doi: 10.1074/jbc.272.11.6831. J Biol Chem. 1997. PMID: 9054364 Free article.

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