The ADAMTS(L) family and human genetic disorders

Goff, Carine Le; Cormier‐Daire, Valérie

doi:10.1093/hmg/ddr361

Cited by 92 publications

(92 citation statements)

References 30 publications

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“…This is a group of 19 proteases which have roles in ECM degradation, connective tissue structure, cell migration, and angiogenesis. 63 Included in this family are the seven ADAMTS-like proteins that lack the catalytic domain of the ADAMTS family and are thus thought to have a regulatory role of the ADAMTS enzymes. 64 To date four members of this superfamily of genes have been described to cause ocular phenotypes (Table 2), with EL as a common feature.…”

Section: Other Autosomal Recessive Mutations Resulting In Elmentioning

confidence: 99%

Molecular pathogenesis and management strategies of ectopia lentis

Chandra

Charteris

2014

Eye

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Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. The recent expansion in the genetics of these conditions has furthered the understanding of the underlying molecular aetiology. It is becoming apparent that novel genes, and in particular the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family, are important in ocular development. The common link in these genes seems to be EL. The clinical management of EL is challenging. In particular, the options for addressing surgically induced aphakia in the context of an ectopic capsule are varied. Little evidence exists to direct management of these issues. This review summarises the molecular pathogenesis of EL and conditions associated with it, using the genetic aetiology as a framework. Furthermore, it summarises some of the issues involved in its clinical management.

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Section: Other Autosomal Recessive Mutations Resulting In Elmentioning

confidence: 99%

Molecular pathogenesis and management strategies of ectopia lentis

Chandra

Charteris

2014

Eye

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“…Several arguments are in favor of a role of ADAMTS17 in growth regulation (for summary, see Table 3), including: (1) significant association with height in population GWAS; 1 (2) a short child with a similar terminal deletion in the DECIPHER database; (3) significant association with size in a GWAS in the domestic dog; 29 (4) human mutations in ADAMTS17 causing the acromelic chondrodysplasia Weill-Marchesani-like syndrome (OMIM #277600 and #608328); [30][31][32][33] and (5) association of members of the ADAMTSL/ADAMTS family with the modulation of fibrillin-1 function. 31,33 Unfortunately, expression of the rodent homolog of ADAMTS17 could not be investigated, because the gene was not represented on the microarrays used. Besides ADAMTS17, this deletion contains three other genes, ALDH1A3, LRRK1 and CHSY1, that might be implicated in short stature.…”

Section: Discussionmentioning

confidence: 99%

“…39 Case II.17, described previously, 12 carries a duplication of 3p12.3 containing part of ROBO2, encoding a receptor for SLIT2 and probably SLIT1, thought to function in axon guidance and cell migration. 40 Case II.21, born SGA, length À3.7 SDS and head circumference À3.1 SDS presented with clinodactily, a protruded [30][31][32][33] Associated with fibrillin-1 function. 31,33 Aldh1a3 and Lrrk1 higher expressed in murine GP; Chsy1 highly expressed in HZ and downregulated with age.…”

Section: Discussionmentioning

confidence: 99%

Copy number variants in patients with short stature

et al. 2013

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“…MMPs degrade collagen and elastin in ECM and degradation of collagen is one of the most important events in invasion and metastasis. 29 32 Kutz et al 33 showed that there was a direct interaction between ADAMTS10 and fibrillin-1 in ECM. Like other ADAMTS, ADAMTS10 mutations may change biomechanical features of ECM in animals.…”

Section: Discussionmentioning

confidence: 99%

Changes of the Expressions of Orphan and gon- ADAMTS in Chondrosarcoma Cells

Işık¹

2015

UHOD

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Some of A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) enzymes have been suggested to facilitate invasion and metastasis in cancer. ADAMTS20 is called gon-ADAMTS and ADAMTS10 and -17 are called orphan ADAMTSs. ADAMTS20 degrades versican and aggrecan in extracellular matrix. We aimed to investigate the effects of insulin on ADAMTS10,-17 and -20 in OUMS-27 chondrosarcoma cells. OUMS-27 cells were cultured in Dulbecco's modified Eagle' medium (DMEM) containing 10 μg/mL insulin. The medium was changed every other day up to 11th day. Cells were harvested at 1, 3, 7, and 11th days and RNA isolation was performed at appropriate times according to study setup. The levels of RNA expression of ADAMTS10,-17 and -20 were estimated by qRT-PCR using appropriate primers. ADAMTS10 mRNA expression gradually decreased within 7 days after insulin induction compared to control group. There was a significant difference between control and Day 7 groups (p=0.021) as well as Day 1 and Day 7 groups (p=0.028). ADAMTS17 mRNA expression increased right after insulin induction at day 1 compared to control group and protected its high levels throughout insulin application. The most evident and statistically significant increase in mRNA concentration was observed at day 7 after insulin induction (p= 0.014). Our results demonstrated that ADAMTS10,-17 and -20 might have a role in cancer progression. Although functions of ADAMTS10 and -17 are not known, their expression levels have changed in chondrosarcoma cell line. Further studies are needed to characterize chondrosarcoma cells because of the possible association between cancer progression and ADAMTS proteins. Keywords: ADAMTS, Chondrosarcoma, Insulin, qRT-PCR, OUMS-27 ÖZET Kondrosarkom Hücrelerinde Orfan ve gon-ADAMTS'ların Ekspresyonundaki DeğişimlerA disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) enzimlerinden bazılarının kanserde invazyon ve metastazı kolaylaştıracağı öngörülmektedir. ADAMTS20, gon-ADAMTS olarak ve ADAMTS10 ile -17, orfan ADAMTS olarak adlandırılır. Bunlardan ADAMTS20 hücre dışı matrikste versikan ve agrekanı parçalayan enzim olarak bilinir. Bu çalışmada OUMS-27 hücrelerinde insülinin ADAMTS10, -17 ve -20 üzerine etkilerinin araştırılması amaçlandı. OUMS-27 hücreleri 10 μg/ml insülin içeren Dulbecco's Modified Eagle Medium (DMEM) ortamında kültüre edildiler. Medyum 11. güne kadar iki günde bir değiştirildi. Hücreler 1, 3, 7 ve 11. günlerde toplandı ve her birinde aynı gün RNA izolasyonları gerçekleştirildi. ADAMTS10, -17 ve -20'nin RNA ekspresyon düzeyleri uygun primerler kullanılarak qRT-PCR ile hesaplandı. Kontrol grubuyla karşılaştırıldığında, ADAMTS10 mRNA ekspresyonu insülin indüksiyonundan sonra 7 gün içinde gittikçe azalmıştır. Kontrol ile 7. gün grubu arasında (p=0.021) ve 1. gün ve 7. gün grubu (p=0.028) arasında anlamlı farklılıklar vardı. Kontrol grubuyla karşılaştırıldığında ADAMTS17 mRNA ekspresyonu insülin indüksiyonundan hemen sonra 1. günde yükselmiş ve yüksek seviyelerini insülin uygulaması boyunca k...

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The ADAMTS(L) family and human genetic disorders

Cited by 92 publications

References 30 publications

Molecular pathogenesis and management strategies of ectopia lentis

Molecular pathogenesis and management strategies of ectopia lentis

Copy number variants in patients with short stature

Changes of the Expressions of Orphan and gon- ADAMTS in Chondrosarcoma Cells

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