References

Collagen cross-links as a determinant of bone quality: a possible explanation for bone fragility in aging, osteoporosis, and diabetes mellitus

10.1007/s00198-009-1066-z · 2010 · External reference

Lysyl oxidase: properties, specificity, and biological roles inside and outside of the cell

10.1002/jcb.10413 · 2003 · External reference

Lysine post-translational modifications of collagen

10.1042/bse0520113 · 2012 · External reference

A molecular ensemble in the rER for procollagen maturation

10.1016/j.bbamcr.2013.04.008 · 2013 · External reference

Prolyl and lysyl hydroxylases in collagen synthesis

10.1111/exd.14197 · 2021 · External reference

Full-Length Human Collagen Lysyl Hydroxylases

2020 · External reference

Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis

10.1074/jbc.m307380200 · 2003 · External reference

Lysyl hydroxylase 3-mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV)

10.1016/j.jbc.2022.102713 · 2022 · External reference

A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome VI

10.1038/ng1192-228 · 1992 · External reference

The 2017 international classification of the Ehlers–Danlos syndromes

10.1002/ajmg.c.31552 · 2017 · External reference

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): Clinical, molecular and biochemical delineation

10.1186/1750-1172-6-46 · 2011 · External reference

10.1016/0945-053x(94)90130-9

10.1016/0945-053x(94)90130-9 · External reference

Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms

10.1002/humu.24456 · 2022 · External reference

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

1997 · External reference

Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C)

10.1007/s004030050287 · 1998 · External reference

Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI

10.1016/s0945-053x(99)00055-4 · 2000 · External reference

Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl

10.1007/s00431-004-1407-z · 2004 · External reference

A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome

10.1097/aog.0b013e3181898cbf · 2009 · External reference

Spontaneous brachial pseudo-aneurysm in a 12-year-old with kyphoscoliosis-type Ehlers-Danlos Syndrome

10.1016/j.ejvs.2012.08.004 · 2012 · External reference

A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation

10.1016/j.pediatrneurol.2014.06.020 · 2014 · External reference

Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke

10.1007/s13312-017-1054-x · 2017 · External reference

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome

10.1136/bcr-2018-224423 · 2018 · External reference

Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

10.3346/jkms.2020.35.e96 · 2020 · External reference

Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene

10.1080/00015385.2020.1802904 · 2021 · External reference

Two novel variants in PLOD1 causing hydrocephalus in female newborn with kyphoscoliotic Ehlers-Danlos syndrome

10.1016/j.ejmg.2021.104269 · 2021 · External reference

Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers-Danlos Syndrome

10.3389/fped.2022.813758 · 2022 · External reference

Nevo syndrome

10.1097/00019605-199510000-00007 · 1995 · External reference

Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)

10.1002/ajmg.a.30529 · 2005 · External reference

Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome

10.1002/ajmg.a.32997 · 2009 · External reference

A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report

10.1002/ccr3.6760 · 2023 · External reference

Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3

10.1038/s41467-018-05631-5 · 2018 · External reference

SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants

10.1002/jbmr.3692 · 2019 · External reference

Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum Complex Regulating Collagen Lysyl Hydroxylation

10.1371/journal.pgen.1006002 · 2016 · External reference

P3h3-null and Sc65-null mice phenocopy the collagen lysine under-hydroxylation and cross-linking abnormality of ehlers-danlos syndrome type VIA

10.1074/jbc.m116.762245 · 2017 · External reference

Type I and type V procollagen triple helix uses different subsets of the molecular ensemble for lysine posttranslational modifications in the rER

10.1016/j.jbc.2021.100453 · 2021 · External reference

Transcriptome profiling of primary skin fibroblasts reveal distinct molecular features between PLOD1-and FKBP14-kyphoscoliotic Ehlers–Danlos syndrome

10.3390/genes10070517 · 2019 · External reference

Biochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation

2025 · External reference

Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding

10.1074/jbc.m111.333336 · 2012 · External reference

Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome

10.1186/s12917-015-0318-8 · 2015 · External reference

Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice

10.1074/jbc.m608830200 · 2007 · External reference

Severe osteogenesis imperfecta in cyclophilin B-deficient mice

10.1371/journal.pgen.1000750 · 2009 · External reference

Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta

10.1371/journal.pgen.1004465 · 2014 · External reference

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome

10.1002/humu.24258 · 2021 · External reference

Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue?

10.1136/jmg.26.1.51 · 1989 · External reference

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient

10.1111/j.0022-202x.2005.23727.x · 2005 · External reference

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

10.1038/gim.2015.30 · 2015 · External reference

Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome

10.1093/hmg/ddz024 · 2019 · External reference

Ehlers-Danlos syndrome type VI: cross-link pattern in tissue and urine sample as a diagnostic marker

10.1016/0190-9622(95)91404-8 · 1995 · External reference

The Expression of a Functional, Secreted Human Lysyl Hydroxylase in a Baculovirus System

10.1111/1523-1747.ep12326956 · 1996 · External reference

Suppression of fibroblast proliferation and lysyl hydroxylase activity by minoxidil

10.1016/s0021-9258(18)45304-5 · 1987 · External reference

Stable Isotope-Labeled Collagen: A Novel and Versatile Tool for Quantitative Collagen Analyses Using Mass Spectrometry

10.1021/pr500213a · 2014 · External reference

Development of a Novel Method for Analyzing Collagen O-glycosylations by Hydrazide Chemistry

10.1074/mcp.m111.010397 · 2012 · External reference

Highly accurate protein structure prediction for the human proteome

10.1038/s41586-021-03828-1 · 2021 · External reference

ColabFold: making protein folding accessible to all

10.1038/s41592-022-01488-1 · 2022 · External reference

10.1007/978-1-0716-2974-1_20

10.1007/978-1-0716-2974-1_20 · External reference

Features and development of Coot

10.1107/s0907444910007493 · 2010 · External reference