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Collagens, modifying enzymes and their mutations in humans, flies and worms

Data up to Jan 2025

Published2003
Citations1,099
References79

Total Citations Per Year

Abstract

References (79)

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Inactivation of the Lysyl Oxidase Gene Lox Leads to Aortic Aneurysms, Cardiovascular Dysfunction, and Perinatal Death in Mice

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Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

2001 • 377 citations

Tyrosine cross-linking of extracellular matrix is catalyzed by Duox, a multidomain oxidase/peroxidase with homology to the phagocyte oxidase subunit gp91phox

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An Allele of COL9A2 Associated with Intervertebral Disc Disease

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Lack of collagen XVIII/endostatin results in eye abnormalities

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Embryonic Lethality of Molecular Chaperone Hsp47 Knockout Mice Is Associated with Defects in Collagen Biosynthesis

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Lysyl Oxidase Is Required for Vascular and Diaphragmatic Development in Mice

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Identification of a Novel Common Genetic Risk Factor for Lumbar Disk Disease

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The human gene mutation database

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CLAC: a novel Alzheimer amyloid plaque component derived from a transmembrane precursor, CLAC-P/collagen type XXV

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Insights on the conformational stability of collagen

2001 • 215 citations

Cuticle collagen genes

2000 • 212 citations

Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice

2001 • 209 citations

The role of collagen-derived proteolytic fragments in angiogenesis

2001 • 199 citations

Cloning and Characterization of ADAMTS-14, a Novel ADAMTS Displaying High Homology with ADAMTS-2 and ADAMTS-3

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The Nc1/Endostatin Domain ofCaenorhabditis elegansType Xviii Collagen Affects Cell Migration and Axon Guidance

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Procollagen N-proteinase and procollagen C-proteinase. Two unusual metalloproteinases that are essential for procollagen processing probably have important roles in development and cell signaling

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New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype

2003 • 154 citations

Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

2002 • 149 citations

A Novel and Highly Conserved Collagen (proα1(XXVII)) with a Unique Expression Pattern and Unusual Molecular Characteristics Establishes a New Clade within the Vertebrate Fibrillar Collagen Family

2003 • 147 citations

The NC1 Domain of Collagen IV Encodes a Novel Network Composed of the α1, α2, α5, and α6 Chains in Smooth Muscle Basement Membranes

2001 • 139 citations

Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1

2003 • 138 citations

Primary Structure, Tissue Distribution, and Chromosomal Localization of a Novel Isoform of Lysyl Hydroxylase (Lysyl Hydroxylase 3)

1998 • 128 citations

Transgenic mice with inactive alleles for procollagen N-proteinase (ADAMTS-2) develop fragile skin and male sterility

2001 • 128 citations

Identification and Characterization of a Third Human, Rat, and Mouse Collagen Prolyl 4-Hydroxylase Isoenzyme

2003 • 121 citations

Caenorhabditis elegans exoskeleton collagen COL‐19: An adult‐specific marker for collagen modification and assembly, and the analysis of organismal morphology

2003 • 120 citations

The mammalian Tolloid-like 1 gene, Tll1, is necessary for normal septation and positioning of the heart

1999 • 118 citations

Collagen XXIV, a Vertebrate Fibrillar Collagen with Structural Features of Invertebrate Collagens

2003 • 116 citations

Prolyl 4-Hydroxylase Is an Essential Procollagen-Modifying Enzyme Required for Exoskeleton Formation and the Maintenance of Body Shape in the Nematode Caenorhabditis elegans

2000 • 115 citations

Characterization of α1(IV) Collagen Mutations in Caenorhabditis elegans and the Effects of α1 and α2(IV) Mutations on Type IV Collagen Distribution

1997 • 115 citations

Type XXIII Collagen, a New Transmembrane Collagen Identified in Metastatic Tumor Cells

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The Basement Membrane Components Nidogen and Type XVIII Collagen Regulate Organization of Neuromuscular Junctions inCaenorhabditis elegans

2003 • 108 citations

Pericardin, aDrosophilatype IV collagen-like protein is involved in the morphogenesis and maintenance of the heart epithelium during dorsal ectoderm closure

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Cloning and characterization of a third human lysyl hydroxylase isoform

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α1(XX) Collagen, a New Member of the Collagen Subfamily, Fibril-associated Collagens with Interrupted Triple Helices

2001 • 104 citations

Type XXVI Collagen, a New Member of the Collagen Family, Is Specifically Expressed in the Testis and Ovary

2002 • 101 citations

Collagenous transmembrane proteins: collagen XVII as a prototype

2003 • 96 citations

Cloning and characterization of a fifth human lysyl oxidase isoenzyme: the third member of the lysyl oxidase-related subfamily with four scavenger receptor cysteine-rich domains

2001 • 95 citations

Two Sets of Interacting Collagens Form Functionally Distinct Substructures within aCaenorhabditis elegansExtracellular Matrix

2003 • 94 citations

Paired Basic/Furin-like Proprotein Convertase Cleavage of Pro-BMP-1 in the trans-Golgi Network

2003 • 91 citations

A new FACIT of the collagen family: COL21A1

2001 • 91 citations

Insights into Extracellular Matrix Functions from Mutant Mouse Models

2000 • 77 citations

Characterization of Three Fragments That Constitute the Monomers of the Human Lysyl Hydroxylase Isoenzymes 1–3

2002 • 76 citations

Prolyl 4-hydroxylase is required for viability and morphogenesis in Caenorhabditis elegans

2000 • 74 citations

Lack of Cytosolic and Transmembrane Domains of Type XIII Collagen Results in Progressive Myopathy

2001 • 70 citations

The let-268 Locus of Caenorhabditis elegans Encodes a Procollagen Lysyl Hydroxylase That Is Essential for Type IV Collagen Secretion

2000 • 64 citations

Molecular Cloning and Biological Activity of a Novel Lysyl Oxidase-related Gene Expressed in Cartilage

2001 • 61 citations

Protein-specific chaperones: The role of hsp47 begins to gel

2000 • 57 citations

Identification of Amino Acids Important for the Catalytic Activity of the Collagen Glucosyltransferase Associated with the Multifunctional Lysyl Hydroxylase 3 (LH3)

2002 • 57 citations

Cloning of a Novel Prolyl 4-Hydroxylase Subunit Expressed in the Fibrous Cap of Human Atherosclerotic Plaque

2003 • 55 citations

dpy-18 Encodes an α-Subunit of Prolyl-4-Hydroxylase in Caenorhabditis elegans

2000 • 48 citations

The Caenorhabditis elegans ERp60 Homolog Protein Disulfide Isomerase-3 Has Disulfide Isomerase and Transglutaminase-like Cross-linking Activity and Is Involved in the Maintenance of Body Morphology

2003 • 46 citations

Abnormal adherence junctions in the heart and reduced angiogenesis in transgenic mice overexpressing mutant type XIII collagen

2001 • 44 citations

A novel thioredoxin-like protein encoded by theC. elegans dpy-11gene is required for body and sensory organ morphogenesis

2002 • 43 citations

Collagen XII Mutation Disrupts Matrix Structure of Periodontal Ligament and Skin

2000 • 42 citations

The Exoskeleton Collagens in Caenorhabditis elegans Are Modified by Prolyl 4-Hydroxylases with Unique Combinations of Subunits

2002 • 42 citations

Cloning of the α Subunit of Prolyl 4-Hydroxylase fromDrosophila and Expression and Characterization of the Corresponding Enzyme Tetramer with Some Unique Properties

1999 • 41 citations

Prolyl 4-hydroxylase α-related proteins in Drosophila melanogaster: tissue-specific embryonic expression of the 99F8-9 cluster

2002 • 34 citations

The nematode cuticle: synthesis, modification and mutants.

2001 • 28 citations

Egg Shell Collagen Formation in Caenorhabditis elegans Involves a Novel Prolyl 4-Hydroxylase Expressed in Spermatheca and Embryos and Possessing Many Unique Properties

2002 • 28 citations

Proteolytic Processing of Caenorhabditis elegansSQT-1 Cuticle Collagen Is Inhibited in Right Roller Mutants whereas Cross-linking Is Inhibited in Left Roller Mutants

1999 • 26 citations

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Collagens, modifying enzymes and their mutations in humans, flies and worms (2003) – Trends in Genetics | Metascience Observatory Explorer