Genomes and Genes
Gene Symbol: ADAMTSL2
Description: ADAMTS like 2
Alias: GPHYSD1, ADAMTS-like protein 2, ADAMTSL-2
- Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasiaAideen M McInerney-Leo
Queensland University of Technology QUT, Institute of Health and Biomedical Innovation IHBI, Queensland, Australia The University of Queensland Diamantina Institute, University of Queensland, Queensland, Australia
J Med Genet 53:457-64. 2016..TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network...
- Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variantAkshatha Desai
Center for Applied Genomics, The Children s Hospital of Philadelphia, Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA
BMC Musculoskelet Disord 17:80. 2016..The current study aimed at finding the mutation that causing EDS type VII C also known as "Dermatosparaxis" in this family...
- ADAMTS proteins as modulators of microfibril formation and functionDirk Hubmacher
Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA Electronic address
Matrix Biol 47:34-43. 2015..microfibrils was first revealed by a human genetic consilience, in which mutations in ADAMTS10, ADAMTS17, ADAMTSL2 and ADAMTSL4 were found to phenocopy rare genetic disorders caused by mutations affecting fibrillin-1 (FBN1), the ..
- Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian geneticsJohanne Dubail
Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA
Matrix Biol 44:24-37. 2015..clinical manifestations of Mendelian disorders resulting from mutations in ADAMTS2, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTSL2 and ADAMTSL4 identified essential roles for each gene, but also suggested potential cooperative functions of ..
- Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasiaDirk Hubmacher
Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA
Dis Model Mech 8:487-99. 2015Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin-Lueke syndrome (MLS) in dogs...
- An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contracturesHannah L Bader
Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
PLoS ONE 5:. 2010..The objective of this work was to determine the genetic basis of MLS and the molecular consequence of the identified mutation...
- Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasiaYu Wang
Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China
J Hum Genet 59:563-7. 2014..By targeted next-generation sequencing of skeletal dysplasia-related genes, including FBN1 and ADAMTSL2, three novel missense mutations, c.5189A>T (p.N1730I), c.5198G>T (p.C1733F), c.5243G>T (p...
- Novel mutations in geleophysic dysplasia type 1Prashob Porayette
1 Department of Pathology, Boston Children s Hospital, Harvard Medical School, Boston, MA, USA
Pediatr Dev Pathol 17:209-16. 2014..type 1 (MIM 231050) is autosomal recessive and is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 (a disintegrin and metalloproteinase with thrombosponding repeats-like 2) gene...
- 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, ..
- 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 ..
- 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...
- 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...