ADAMTSL2

Summary

Gene Symbol: ADAMTSL2
Description: ADAMTS like 2
Alias: GPHYSD1, ADAMTS-like protein 2, ADAMTSL-2
Species: human

Top Publications

  1. doi Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
    Aideen 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
  2. pmc Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant
    Akshatha 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
  3. pmc ADAMTS proteins as modulators of microfibril formation and function
    Dirk Hubmacher
    Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA Electronic address
    Matrix Biol 47:34-43. 2015
  4. doi Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics
    Johanne Dubail
    Cleveland Clinic Lerner Research Institute, Cleveland, OH, USA
    Matrix Biol 44:24-37. 2015
  5. pmc Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia
    Dirk Hubmacher
    Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Dis Model Mech 8:487-99. 2015
  6. pmc An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures
    Hannah L Bader
    Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA
    PLoS ONE 5:. 2010
  7. doi Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia
    Yu 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
  8. doi Novel mutations in geleophysic dysplasia type 1
    Prashob Porayette
    1 Department of Pathology, Boston Children s Hospital, Harvard Medical School, Boston, MA, USA
    Pediatr Dev Pathol 17:209-16. 2014
  9. doi From tall to short: the role of TGFβ signaling in growth and its disorders
    Carine 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
  10. doi Similarity of geleophysic dysplasia and Weill-Marchesani syndrome
    Aaina Kochhar
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota
    Am J Med Genet A 161:3130-2. 2013

Scientific Experts

  • Dirk Hubmacher
  • Carine Le Goff
  • Suneel S Apte
  • Valerie Cormier-Daire
  • Akshatha Desai
  • Aideen M McInerney-Leo
  • Johanne Dubail
  • Yu Wang
  • Prashob Porayette
  • Tomoko Lee
  • Aaina Kochhar
  • Salma Ben-Salem
  • Slimane Allali
  • Hannah L Bader
  • Philip Sohn
  • Bon Hun Koo
  • Michael March
  • Gholson Lyon
  • John J Connolly
  • Cecilia Kim
  • Cuiping Hou
  • Dexter Hadley
  • Christine Bole-Feysot
  • Andreas Zankl
  • Tony J Kenna
  • Matthew A Brown
  • Emma L Duncan
  • Hakon Hakonarson
  • Patrick Nitschke
  • Rosetta Chiavacci
  • Paul J Leo
  • Ruth Steer
  • Nina G Hall
  • Patricia Keith
  • Cay Kielty
  • Jessica E Harris
  • Alfredo Pinto-Rojas
  • Deborah Fruitman
  • Xuefan Gu
  • Stephen P Sanders
  • Huiwen Zhang
  • Antonio R Perez-Atayde
  • Julie L Lauzon
  • Lianshu Han
  • Jun Ye
  • Kazumoto Iijima
  • Yasuhiro Takeshima
  • Mariko Yagi
  • Salman Kirmani
  • Bassam R Ali
  • Masafumi Matsuo
  • Noriko Kusunoki
  • Norio Sakai
  • Frank Cetta
  • Lihadh Al-Gazali
  • Yo Okizuka
  • Brian Younge
  • Hiroyuki Awano
  • Jozef Hertecant
  • Kiyoshi Hamahira
  • Virginia Michels
  • Aisha M Al-Shamsi
  • James C Hyland
  • Kay MacDermot
  • Sally A Lynch
  • Sheila Unger
  • Isabelle Pressac-Diebold
  • David Genevieve
  • Jane Hurst
  • Andrea Superti-Furga
  • Stanislas Lyonnet
  • Yasemin Alanay
  • Yanick J Crow
  • Andre Megarbane
  • Sahar Mansour
  • Elisabeth Flori
  • Angela F Brady
  • Koen Devriendt
  • Denise Williams
  • Martine Le Merrer
  • Gwendoline Pfennig
  • Miranda Splitt
  • Raoul C Hennekam
  • Deborah Krakow
  • Nathalie Dagoneau
  • Arnold Munnich
  • Clémentine Mahaut
  • Heloisa G Santos
  • Klaske D Lichtenbelt
  • Valérie Drouin-Garraud

Detail Information

Publications22

  1. doi Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
    Aideen 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...
  2. pmc Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant
    Akshatha 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...
  3. pmc ADAMTS proteins as modulators of microfibril formation and function
    Dirk 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 ..
  4. doi Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics
    Johanne 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 ..
  5. pmc Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia
    Dirk Hubmacher
    Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Dis Model Mech 8:487-99. 2015
    Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin-Lueke syndrome (MLS) in dogs...
  6. pmc An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures
    Hannah 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...
  7. doi Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia
    Yu 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...
  8. doi Novel mutations in geleophysic dysplasia type 1
    Prashob 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...
  9. doi From tall to short: the role of TGFβ signaling in growth and its disorders
    Carine 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, ..
  10. doi Similarity of geleophysic dysplasia and Weill-Marchesani syndrome
    Aaina 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 ..
  11. doi Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates
    Salma 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 ..
  12. doi A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1
    Tomoko 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 ..
  13. ncbi ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases
    Nina 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...
  14. doi The ADAMTS(L) family and human genetic disorders
    Carine 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 ..
  15. pmc Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function
    Dirk 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...
  16. pmc Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
    Carine 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...
  17. pmc Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
    Slimane 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).
  18. pmc Molecular profiling of the developing mouse axial skeleton: a role for Tgfbr2 in the development of the intervertebral disc
    Philip 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...
  19. ncbi Genetic and molecular aspects of acromelic dysplasia
    Carine 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...
  20. pmc ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation
    Carine 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 ..
  21. ncbi ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis
    Bon 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. 2007
    ADAMTS-like 2 (ADAMTSL2), is a secreted protein resembling the ancillary domains of the ADAMTS proteases, but with distinct structural features...