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searching for Lysyl hydroxylase 7 found (17 total)

PLOD3 (690 words) [view diff] exact match in snippet view article find links to article

patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. GRCh38: Ensembl release 89: ENSG00000106397 – Ensembl, May

Bruck syndrome (782 words) [view diff] exact match in snippet view article find links to article

hydroxylysylpyridinoline cross-links. Type 2 encodes the enzyme, lysyl hydroxylase 2, which catalyzes hydroxylation of lysine residues in collagen cross-links

List of genes mutated in cutaneous conditions (108 words) [view diff] exact match in snippet view article find links to article

Plectin Epidermolysis bullosa simplex with muscular dystrophy PLOD Lysyl hydroxylase Kyphoscoliosis variant of Ehlers–Danlos syndrome PPARG Köbberling–Dunnigan

Christopher J. Schofield (4,200 words) [view diff] exact match in snippet view article find links to article

which was shown to be a nucleic acid demethylase and JMJD6 which is a lysyl hydroxylase modifying RNA splicing protein. The 2-oxoglutarate (2OG)-dependent

Alpha-ketoglutarate-dependent hydroxylases (3,971 words) [view diff] exact match in snippet view article find links to article

in the uncoupled reactions catalyzed by prolyl 4-hydroxylase and lysyl hydroxylase". J. Biol. Chem. 259 (9): 5403–5405. doi:10.1016/S0021-9258(18)91023-9

Ehlers–Danlos syndrome (11,295 words) [view diff] exact match in snippet view article find links to article

gene-variant testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity, but these tests are not able to confirm all cases

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

222700; SLC7A7 Lysosomal acid phosphatase deficiency; 200950; ACP2 Lysyl hydroxylase 3 deficiency; 612394; PLOD3 Machado–Joseph disease; 109150; ATXN3