ADAMTSL2

Summary

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

Top Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. doi 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
  7. 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
  8. doi 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
  9. 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
  10. 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

Scientific Experts

  • Dirk Hubmacher
  • Carine Le Goff
  • Salma Ben-Salem
  • Aaina Kochhar
  • Tomoko Lee
  • Slimane Allali
  • Philip Sohn
  • Bon Hun Koo
  • Suneel S Apte
  • Nina G Hall
  • Kazumoto Iijima
  • Virginia Michels
  • Norio Sakai
  • Kiyoshi Hamahira
  • Lihadh Al-Gazali
  • Salman Kirmani
  • Bassam R Ali
  • James C Hyland
  • Yasuhiro Takeshima
  • Masafumi Matsuo
  • Aisha M Al-Shamsi
  • Hiroyuki Awano
  • Noriko Kusunoki
  • Jozef Hertecant
  • Yo Okizuka
  • Mariko Yagi
  • Frank Cetta
  • Brian Younge
  • Elisabeth Flori
  • Nathalie Dagoneau
  • Sally A Lynch
  • David Genevieve
  • Jane Hurst
  • Valérie Drouin-Garraud
  • Koen Devriendt
  • Klaske D Lichtenbelt
  • Yasemin Alanay
  • Stanislas Lyonnet
  • Kay MacDermot
  • Andrea Superti-Furga
  • Denise Williams
  • Gwendoline Pfennig
  • Sheila Unger
  • Martine Le Merrer
  • Miranda Splitt
  • Isabelle Pressac-Diebold
  • Deborah Krakow
  • Heloisa G Santos
  • Raoul C Hennekam
  • Sahar Mansour
  • Valerie Cormier-Daire
  • Arnold Munnich
  • Clémentine Mahaut
  • Yanick J Crow
  • Andre Megarbane
  • Angela F Brady
  • Megan Cox
  • Dongquan Chen
  • Rosa Serra
  • Katherine A Jungers
  • Amit Vasanji
  • John O'Flaherty
  • Crystal M Weyman
  • Philip Klenotic
  • Bela Anand-Apte

Detail Information

Publications14

  1. 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 ..
  2. 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 ..
  3. 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 ..
  4. 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, ..
  5. 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 ..
  6. doi 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...
  7. 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...
  8. doi 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).
  9. 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...
  10. 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...
  11. 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 ..
  12. 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...
  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...