Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene
about
Genetics of inherited cardiocutaneous syndromes: a reviewTranscriptional regulation by the Wilms tumor protein, Wt1, suggests a role of the metalloproteinase Adamts16 in murine genitourinary developmentRegulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendonBiosynthesis and expression of a disintegrin-like and metalloproteinase domain with thrombospondin-1 repeats-15: a novel versican-cleaving proteoglycanaseVascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variantInterstitial guidance of cancer invasion.Gene expression profiling of craniofacial fibrous dysplasia reveals ADAMTS2 overexpression as a potential marker.ADAMTS-18: a metalloproteinase with multiple functionsCollagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.Effect of insulin on the mRNA expression of procollagen N-proteinases in chondrosarcoma OUMS-27 cells.Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report.Genome-Wide Association Study Identifies ZNF354C Variants Associated with Depression from Interferon-Based Therapy for Chronic Hepatitis C.Site-specific gene expression profiling as a novel strategy for unravelling keloid disease pathobiology.ADAMTS3 activity is mandatory for embryonic lymphangiogenesis and regulates placental angiogenesis.A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012Emerging Roles of ADAMTSs in Angiogenesis and Cancer.Metalloproteases meprin α and meprin β are C- and N-procollagen proteinases important for collagen assembly and tensile strengthRIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeThe emerging roles of ADAMTS-7 and ADAMTS-12 matrix metalloproteinases.Adamts18 deletion results in distinct developmental defects and provides a model for congenital disorders of lens, lung, and female reproductive tract development.The role of ADAMTSs in arthritisExtracellular metalloproteinases in neural crest development and craniofacial morphogenesis.Genetics of ectopia lentis.Differential DNA methylation in peripheral blood mononuclear cells in adolescents exposed to significant early but not later childhood adversity.The Ehlers-Danlos syndromes, rare types.Increased Expression of Lamin A/C Correlate with Regions of High Wall Stress in Abdominal Aortic AneurysmsProdomain-dependent tissue targeting of an ADAMTS protease controls cell migration in Caenorhabditis elegans.ADAM metallopeptidase with thrombospondin type 1 motif 2 inactivation reduces the extent and stability of carbon tetrachloride-induced hepatic fibrosis in mice.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.The Many Facets of Metzincins and Their Endogenous Inhibitors: Perspectives on Ovarian Cancer Progression.Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep.Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.Matrix Proteases and the Degradome
P2860
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P2860
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene
description
2004 nî lūn-bûn
@nan
2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Novel types of mutation respon ...... ymorphisms in the ADAMTS2 gene
@ast
Novel types of mutation respon ...... ymorphisms in the ADAMTS2 gene
@en
Novel types of mutation respon ...... ymorphisms in the ADAMTS2 gene
@nl
type
label
Novel types of mutation respon ...... ymorphisms in the ADAMTS2 gene
@ast
Novel types of mutation respon ...... ymorphisms in the ADAMTS2 gene
@en
Novel types of mutation respon ...... ymorphisms in the ADAMTS2 gene
@nl
prefLabel
Novel types of mutation respon ...... ymorphisms in the ADAMTS2 gene
@ast
Novel types of mutation respon ...... ymorphisms in the ADAMTS2 gene
@en
Novel types of mutation respon ...... ymorphisms in the ADAMTS2 gene
@nl
P2093
P3181
P1476
Novel types of mutation respon ...... ymorphisms in the ADAMTS2 gene
@en
P2093
Alain Colige
Anthonie J van Essen
Betty V Nusgens
Charles M Lapière
Christian Herens
Gerhard Wolff
Ingrid Hausser
J H Sillevis Smitt
Jan C Oosterwijk
Lesley C Adès
P304
P3181
P356
10.1111/J.0022-202X.2004.23406.X
P407
P577
2004-10-01T00:00:00Z
P6179
1018654073