Gene Symbol: ADAMTSL2
Description: ADAMTS-like 2
Alias: GPHYSD1, ADAMTS-like protein 2, ADAMTSL-2
- Similarity of geleophysic dysplasia and Weill-Marchesani syndromeAaina Kochhar
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota
Am J Med Genet A 161:3130-2. 2013..while geleophysic dysplasia is associated with enhanced TGF-β signaling mediated through mutations in FBN1 or ADAMTSL2. We studied a 35-year-old woman with geleophysic dysplasia, with short stature, small hands and feet, limitation ..
- Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab EmiratesSalma Ben-Salem
Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University
Birth Defects Res A Clin Mol Teratol 97:764-9. 2013..Mutations in ADAMTSL2 and FBN1 genes have been shown to cause GD due to the dysregulation of transforming growth factor-β signaling ..
- A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1Tomoko Lee
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan
Gene 512:456-9. 2013..g., a "happy" face), and cardiac valvular disorders that often result in an early death. The genes ADAMTSL2 (a disintegrin-like and metalloprotease with thrombospondin type 1 motif-like 2) and FBN1 (fibrillin 1) were ..
- From tall to short: the role of TGFβ signaling in growth and its disordersCarine Le Goff
Département de génétique, Unité INSERM U781, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Hopital Necker Enfants Malades, Paris, France
Am J Med Genet C Semin Med Genet 160:145-53. 2012..We then identified mutations in ADAMTSL2 in the recessive form of GD and a hotspot of mutations in FBN1 in the dominant form of GD and in AD (exon 41-42, ..
- The ADAMTS(L) family and human genetic disordersCarine Le Goff
Département de génétique, Unité INSERM U781, Universite Paris Descartes, Sorbonne Paris Cité, Tour Lavoisier, 149 rue de Sevres, Paris, France
Hum Mol Genet 20:R163-7. 2011..Mutations in ADAMTS13, ADAMTS2, ADAMTS10, ADAMTS17, ADAMTSL2 and ADAMTSL4 have been identified in distinct human genetic disorders ranging from thrombotic thrombocytopenic ..
- Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and functionDirk Hubmacher
Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA
Cell Mol Life Sci 68:3137-48. 2011..disorders, leading to recessive WMS (ADAMTS10), WMS-like syndrome (ADAMTS17), IEL (ADAMTSL4 and ADAMTS17) and GD (ADAMTSL2). An ADAMTSL2 founder mutation causes Musladin-Lueke syndrome, a fibrotic disorder in beagle dogs...
- Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff
Department of Genetics, Universite Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale, Hopital Necker Enfants Malades, Paris, France
Am J Hum Genet 89:7-14. 2011..Although AD has an unknown molecular basis, we have previously identified ADAMTSL2 mutations in a subset of GD patients...
- Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali
Department of Genetics, INSERM U781, Universite Paris Descartes, Hopital Necker, Paris, France
J Med Genet 48:417-21. 2011..In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A Disintegrin And Metalloproteinase with Thrombospondin repeats-like 2 gene (ADAMTSL2).
- Molecular profiling of the developing mouse axial skeleton: a role for Tgfbr2 in the development of the intervertebral discPhilip Sohn
Department of Cell Biology, University of Alabama at Birmingham, Birmingham AL, USA
BMC Dev Biol 10:29. 2010..We also compared expression profiles in tissues from wild type and Tgfbr2 mutant mice as well as in sclerotome cultures treated with TGF-beta or BMP4...
- Genetic and molecular aspects of acromelic dysplasiaCarine Le Goff
Department of Genetics, Universite Paris Descartes, INSERM U781, Hopital Necker Enfants Malades, Paris, France
Pediatr Endocrinol Rev 6:418-23. 2009..More recently, we have identified ADAMTSL2 mutations in GD. The function of ADAMTS1 0 and AD AMTSL 2 are unknown...
- ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulationCarine Le Goff
Département de génétique, Unité INSERM U781, Universite Paris Descartes, Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, 75015 Paris, France
Nat Genet 40:1119-23. 2008..2 and identified five distinct nonsense and missense mutations in ADAMTSL2 (a disintegrin and metalloproteinase with thrombospondin repeats-like 2), which encodes a secreted glycoprotein ..
- ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesisBon Hun Koo
Department of Biomedical Engineering and Orthopaedic Research Center, Lerner Research Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA
Matrix Biol 26:431-41. 2007ADAMTS-like 2 (ADAMTSL2), is a secreted protein resembling the ancillary domains of the ADAMTS proteases, but with distinct structural features...
- ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteasesNina G Hall
Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
Matrix Biol 22:501-10. 2003..The domain structure of punctin-2 and its matrix localization suggest that it might play a role in cell-matrix interactions or in assembly of specific extracellular matrices...