A Superti-Furga

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. ncbi request reprint Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)
    J Hästbacka
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Eur J Hum Genet 7:664-70. 1999
  2. pmc Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias
    J Hästbacka
    Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge, USA
    Am J Hum Genet 58:255-62. 1996
  3. ncbi request reprint Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production
    A Rossi
    Department of Biochemistry Alessandro Castellani, University of Pavia, Italy
    Matrix Biol 17:361-9. 1998
  4. ncbi request reprint Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
    A Rossi
    Division of Metabolic and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland
    Hum Mutat 17:159-71. 2001
  5. ncbi request reprint Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia
    A Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Clin Genet 56:71-6. 1999
  6. ncbi request reprint Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
    A Superti-Furga
    Department of Pediatrics, University of Zurich, University Children s Hospital, Switzerland
    Nat Genet 12:100-2. 1996
  7. ncbi request reprint Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin)
    A Superti-Furga
    Department of Pediatrics, University of Zurich, Switzerland
    Genomics 17:463-7. 1993
  8. pmc DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot)
    L Bonafe
    J Med Genet 39:e20. 2002
  9. pmc Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
    D Ballhausen
    J Med Genet 40:65-71. 2003
  10. pmc Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene
    M Melkoniemi
    Collagen Research Unit, Biocenter, Department of Medical Biochemistry, University of Oulu, Kajaanintie 52A, FIN 90220 Oulu, Finland
    Am J Hum Genet 66:368-77. 2000

Collaborators

  • A de la Chapelle
  • W R Wilcox
  • Antonio Rossi
  • H Wang
  • T Hirose
  • V Schuster
  • Dorit Lev
  • Tim Cundy
  • Thomas Abraham
  • Claudio Bruno
  • Jacqueline Hecht
  • F H Glorieux
  • M Ahmad
  • L Bonafe
  • G Eich
  • B Zabel
  • B Steinmann
  • J Hästbacka
  • M L Warman
  • M Kalff-Suske
  • D H Cohn
  • D Ballhausen
  • E Jakkula
  • M Di Rocco
  • J Spranger
  • A Giedion
  • L Ala-Kokko
  • F Rutsch
  • Y Gong
  • U Stucki
  • H G Brunner
  • D Sobetzko
  • W Van Hul
  • M Melkoniemi
  • R M Pauli
  • K H Grzeschik
  • A Winterpacht
  • A Megarbane
  • M Le Merrer
  • J R Hurvitz
  • M Faiyaz ul Haque
  • M Schwartz
  • E S Lander
  • G Bellus
  • B C Hamel
  • M Classen
  • M Marti
  • W G Cole
  • G Stella
  • L Doria Lamba
  • P Terhal
  • E Boltshauser
  • S L Unger
  • A Capone
  • J Lohiniva
  • M Bado
  • S Broussard
  • A Scott
  • C A Wise
  • H Stoss
  • S H Blanton
  • K Schmitt
  • R G Boles
  • R Baron
  • B Hall
  • P Beighton
  • R Terkeltaub
  • C Borrone
  • W A Boisvert
  • H Juppner
  • A De Paepe
  • B Dallapiccola
  • W Suwairi
  • N Fukai
  • R C Hennekam
  • G C Black
  • J Allgrove
  • K Johnson
  • M Romanengo
  • L Peltonen
  • G Sabatakos
  • G Rawadi
  • M L Halfhide
  • M Zacharin
  • K Sano
  • L M Boon
  • S Apte
  • T Garcia
  • B R Olsen
  • J A Batch

Detail Information

Publications27

  1. ncbi request reprint Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)
    J Hästbacka
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Eur J Hum Genet 7:664-70. 1999
    ..Eight such chromosomes had an R279W mutation and one had a V340del deletion. We consider the possible implications of presence of multiple DTD mutations on this rare haplotype...
  2. pmc Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias
    J Hästbacka
    Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge, USA
    Am J Hum Genet 58:255-62. 1996
    ..The severity of the phenotype appears to be correlated with the predicted effect of the mutations on the residual activity of the DTDST protein...
  3. ncbi request reprint Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production
    A Rossi
    Department of Biochemistry Alessandro Castellani, University of Pavia, Italy
    Matrix Biol 17:361-9. 1998
    ....
  4. ncbi request reprint Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
    A Rossi
    Division of Metabolic and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland
    Hum Mutat 17:159-71. 2001
    ..Mouse models for this and other disorders of sulfate metabolism are being developed to help in developing therapeutic treatments...
  5. ncbi request reprint Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia
    A Megarbane
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Clin Genet 56:71-6. 1999
    ..Molecular analysis may be of particular value in such atypical cases...
  6. ncbi request reprint Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
    A Superti-Furga
    Department of Pediatrics, University of Zurich, University Children s Hospital, Switzerland
    Nat Genet 12:100-2. 1996
  7. ncbi request reprint Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin)
    A Superti-Furga
    Department of Pediatrics, University of Zurich, Switzerland
    Genomics 17:463-7. 1993
    ..Two species of mRNA (1.0 and 2.2 kb) are present, indicating alternative polyadenylation or alternative splicing. The cDNA clones map to 1q12-q23 in a cell hybrid panel containing specific chromosomal deletions...
  8. pmc DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot)
    L Bonafe
    J Med Genet 39:e20. 2002
  9. pmc Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
    D Ballhausen
    J Med Genet 40:65-71. 2003
  10. pmc Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene
    M Melkoniemi
    Collagen Research Unit, Biocenter, Department of Medical Biochemistry, University of Oulu, Kajaanintie 52A, FIN 90220 Oulu, Finland
    Am J Hum Genet 66:368-77. 2000
    ..We conclude that the OSMED phenotype is highly homogenous and results from homozygosity or compound heterozygosity for COL11A2 mutations, most of which are predicted to cause complete absence of alpha2(XI) chains...
  11. ncbi request reprint Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual
    D Sobetzko
    Department of Pediatrics, University Children s Hospital, Zurich, Switzerland
    Am J Med Genet 90:239-42. 2000
    ..The diagnostic difficulties posed by the combination of two genetic disorders and the contribution of molecular diagnostics are well illustrated by this case...
  12. pmc PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification
    F Rutsch
    Department of Pediatrics, Municipal Children s Hospital, Dortmund, Germany
    Am J Pathol 158:543-54. 2001
    ....
  13. ncbi request reprint Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia
    M Di Rocco
    Second Unit of Pediatrics, Istituto G Gaslini, Genoa, Italy
    Am J Med Genet A 118:362-8. 2003
    ..An increased number of lipid droplets in muscle fibers and decreased muscle mitochondrial enzyme activities have been found in one patient, confirming a previously reported association between SWS and respiratory chain abnormalities...
  14. ncbi request reprint Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature
    U Stucki
    Division of Metabolism and Molecular Pediatrics, Department of Pediatrics, , Switzerland
    Am J Med Genet 100:122-9. 2001
    ....
  15. ncbi request reprint RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
    L Bonafe
    Division of Metabolism and Molecular Paediatrics and Division of Radiology, University Children s Hospital, Zurich, Switzerland
    Clin Genet 61:146-51. 2002
    ..The short stature and metaphyseal changes associated with cone-shaped epiphyses of the hands should raise the diagnostic possibility of a CHH-related disorder that can then be confirmed by mutation analysis...
  16. ncbi request reprint LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
    Y Gong
    Cell 107:513-23. 2001
    ..These data indicate that Wnt-mediated signaling via LRP5 affects bone accrual during growth and is important for the establishment of peak bone mass...
  17. ncbi request reprint Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia
    J R Hurvitz
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA
    Nat Genet 23:94-8. 1999
    ..We have identified nine different WISP3 mutations in unrelated, affected individuals, indicating that the gene is essential for normal post-natal skeletal growth and cartilage homeostasis...
  18. pmc Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution
    B Steinmann
    Department of Pediatrics, University of Zurich, Switzerland
    Biochem J 279:747-52. 1991
    ....
  19. ncbi request reprint Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen
    A Superti-Furga
    Department of Pediatrics, University of Zurich, Switzerland
    J Biol Chem 263:6226-32. 1988
    ..The mutant procollagen molecules have decreased thermal stability, are less efficiently secreted, and are not processed as their normal counterpart. The deletion in this family is the first mutation to be described in COL3A1...
  20. ncbi request reprint A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
    A Superti-Furga
    Department of Pediatrics, University of Zurich, Switzerland
    Eur J Pediatr 154:215-9. 1995
    ..This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia...
  21. ncbi request reprint A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia
    B Zabel
    Children s Hospital, University of Mainz, Germany
    Am J Med Genet 63:123-8. 1996
    ..Our case with its distinct phenotype adds another chondrodysplasia to the clinical spectrum of type II collagenopathies...
  22. pmc The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia
    A Winterpacht
    Children s Hospital, University of Mainz, Germany
    J Med Genet 33:649-54. 1996
    ..These observations provide further evidence for the general association of Kniest dysplasia with small deletions in the helical domain of type II collagen...
  23. ncbi request reprint The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I
    M Schwartz
    Department of Clinical Genetics, Juliane Marie Centre, University Hospital, Rigshospitalet, Copenhagen, Denmark
    Hum Genet 102:452-8. 1998
    ..Here we report the entire sequences of introns 1, 2, 3, 6, 7, 8 and 9, and part of those of introns 4, 5 and 10 as well as 21 different mutations in 20 patients with GAI, corresponding to 38 out of 40 alleles...
  24. ncbi request reprint Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse
    M Faiyaz ul Haque
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Research Institute, Los Angeles, California 90048, USA
    Nat Genet 20:157-62. 1998
    ....
  25. ncbi request reprint Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome
    M Kalff-Suske
    Medizinisches Zentrum für Humangenetik, Philipps Universitat Marburg, D 35037 Marburg, Germany
    Hum Mol Genet 8:1769-77. 1999
    ....
  26. ncbi request reprint A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta
    J R Hawkins
    Department of Genetics, University of Leicester, United Kingdom
    J Biol Chem 266:22370-4. 1991
    ..How the mutation produces the lethal osteogenesis imperfecta phenotype is not entirely clear; the data suggest that the interaction of alpha chains immediately prior to helix formation may be affected...
  27. pmc A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
    E Jakkula
    J Med Genet 40:942-8. 2003