J Fischer

Summary

Country: France

Publications

  1. ncbi request reprint Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region
    J Fischer
    CNRS URA 1922, Genethon, Evry, France
    Eur J Hum Genet 5:156-60. 1997
  2. pmc Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity
    J Fischer
    Centre National de Genotypage, 91057 Evry Cedex, France
    Am J Hum Genet 66:904-13. 2000
  3. ncbi request reprint Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
    Caroline Lefèvre
    Centre National de Genotypage, Evry, France
    Hum Mol Genet 12:2369-78. 2003
  4. ncbi request reprint Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
    Caroline Lefèvre
    Centre National de Genotypage, Evry, France
    Hum Mol Genet 13:2473-82. 2004
  5. ncbi request reprint A rare cause of nonalcoholic fatty liver disease
    Sandra Ciesek
    Ann Intern Med 145:154-5. 2006
  6. doi request reprint Autosomal recessive congenital ichthyosis
    Judith Fischer
    CEA, Institut de Génomique, Centre National de Genotypage, Dermatologic Diseases, Evry, France
    J Invest Dermatol 129:1319-21. 2009
  7. ncbi request reprint The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
    Judith Fischer
    Centre National de Genotypage, 91057 Evry Cedex, France
    Nat Genet 39:28-30. 2007
  8. ncbi request reprint Mutations in the gene encoding SLURP-1 in Mal de Meleda
    J Fischer
    Centre National de Genotypage, 91057 Evry, France
    Hum Mol Genet 10:875-80. 2001
  9. ncbi request reprint [Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]
    Judith Fischer
    CNG, Centre National de Genotypage, 2, rue Gaston Crémieux CP 5721, 91057 Evry Cedex, France
    Med Sci (Paris) 23:575-8. 2007
  10. ncbi request reprint Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome
    C Lefevre
    Centre National de Genotypage, Evry, France
    J Invest Dermatol 117:1657-61. 2001

Collaborators

  • Cristina Has
  • B Bouadjar
  • D Hohl
  • Serap Emre
  • Marie Hélène Dizier
  • A Bakija-Konsuo
  • Pascal Laforet
  • A Bakija Konsuo
  • E Morava
  • Emmanuel Mahe
  • Andre Megarbane
  • Detlev Ganten
  • Rudolf Zechner
  • Sonja Levanat
  • M Pravenec
  • E S Tasheva
  • T J Aitman
  • K Lindpaintner
  • Fabienne Lesueur
  • Caroline Lefèvre
  • Florence Jobard
  • Jean François Prud'homme
  • Mark Lathrop
  • C Lefevre
  • Meral Ozguc
  • Stephanie Claus
  • Martina Schweiger
  • Stuart A Cook
  • Enrico Petretto
  • Jan Monti
  • Norbert Hubner
  • Sandra Ciesek
  • Safa Saker
  • Nicolas Schleinitz
  • Valerie Delague
  • Meral Topcu
  • Ramesh Srinivasan
  • Fabrice Chimienti
  • Stéphanie Audebert
  • Slaheddine Marrakchi
  • Aysen Karaduman
  • Claudine Blanchet-Bardon
  • Jean Weissenbach
  • J F Prud'homme
  • F Jobard
  • Sanjay K Prasad
  • Gabriele Schoiswohl
  • Wolfgang Graier
  • Gary W Conrad
  • Simone Peyrol
  • Roland Malli
  • Klaus Rohde
  • Robert Salvayre
  • Blanche Schroen
  • Cosima Schmidt
  • Robert Zimmermann
  • Yigal M Pinto
  • Bruce D Hammock
  • Steven M Weldon
  • Svetlana Paskas
  • Henrike Maatz
  • Odile Damour
  • Hala Megarbane
  • Wolf Hagen Schunck
  • Han Lu
  • Lolita M Corpuz
  • Oliver Hummel
  • Martin Vingron
  • Irina Cornaciu
  • Megan D Webb
  • Robert Fischer
  • Martine Devillers
  • Kathrin Saar
  • Arnd Heuser
  • Matthew Benson
  • Chris Kiesewetter
  • Pascal Sommer
  • Matthias Heinig
  • Volkmar Gross
  • Alexander Schirdewan
  • Dudley J Pennell
  • Herbert Schulz
  • Monika Oberer
  • Vladimir Kren
  • Romain Debret
  • Guenter Haemmerle
  • Jonathan Mangion
  • Theodore W Kurtz
  • Giannino Patone
  • Friedrich C Luft

Detail Information

Publications28

  1. ncbi request reprint Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region
    J Fischer
    CNRS URA 1922, Genethon, Evry, France
    Eur J Hum Genet 5:156-60. 1997
    ..Analysis of recombination events places the gene within a 7-cM interval between AFM063yg1 and AFM269yg9 (D11S4175). No shared haplotype was found for the 5 families analysed...
  2. pmc Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity
    J Fischer
    Centre National de Genotypage, 91057 Evry Cedex, France
    Am J Hum Genet 66:904-13. 2000
    ..All four loci could be excluded in the others, implying further genetic heterogeneity in this disorder. Multipoint linkage analysis gave maximal LOD scores of 11.25 at locus D19S566 and 8.53 at locus D3S3564...
  3. ncbi request reprint Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
    Caroline Lefèvre
    Centre National de Genotypage, Evry, France
    Hum Mol Genet 12:2369-78. 2003
    ..By analogy with ABCA3, a lamellar body membrane protein in lung alveolar type II cells, ABCA12 could function in cellular lipid trafficking in keratinocytes...
  4. ncbi request reprint Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
    Caroline Lefèvre
    Centre National de Genotypage, Evry, France
    Hum Mol Genet 13:2473-82. 2004
    ..We propose that ichthyin and NIPA1 are membrane receptors for ligands (trioxilins A3 and B3) from the hepoxilin pathway...
  5. ncbi request reprint A rare cause of nonalcoholic fatty liver disease
    Sandra Ciesek
    Ann Intern Med 145:154-5. 2006
  6. doi request reprint Autosomal recessive congenital ichthyosis
    Judith Fischer
    CEA, Institut de Génomique, Centre National de Genotypage, Dermatologic Diseases, Evry, France
    J Invest Dermatol 129:1319-21. 2009
    ..The story of ARCI provides an instructive example of synergy among geneticists, biochemists, and clinicians...
  7. ncbi request reprint The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
    Judith Fischer
    Centre National de Genotypage, 91057 Evry Cedex, France
    Nat Genet 39:28-30. 2007
    ..NLSDM is distinct from Chanarin-Dorfman syndrome, which is characterized by neutral lipid storage disease with ichthyosis, mild myopathy and hepatomegaly due to mutations in ABHD5 (also known as CGI-58)...
  8. ncbi request reprint Mutations in the gene encoding SLURP-1 in Mal de Meleda
    J Fischer
    Centre National de Genotypage, 91057 Evry, France
    Hum Mol Genet 10:875-80. 2001
    ..Secreted and receptor proteins of the Ly-6/uPAR superfamily have been implicated in transmembrane signal transduction, cell activation and cell adhesion. This is the first instance of a secreted protein being involved in a PPK...
  9. ncbi request reprint [Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]
    Judith Fischer
    CNG, Centre National de Genotypage, 2, rue Gaston Crémieux CP 5721, 91057 Evry Cedex, France
    Med Sci (Paris) 23:575-8. 2007
  10. ncbi request reprint Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome
    C Lefevre
    Centre National de Genotypage, Evry, France
    J Invest Dermatol 117:1657-61. 2001
    ..Hum Mutat 17:152-153, 2001)...
  11. pmc Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome
    C Lefevre
    Centre National de Genotypage, 91057 Evry Cedex, France
    Am J Hum Genet 69:1002-12. 2001
    ..Interestingly, CGI-58 differs from other members of the esterase/lipase/thioesterase subfamily in that its putative catalytic triad contains an asparagine in place of the usual serine residue...
  12. ncbi request reprint Genetic linkage of Meleda disease to chromosome 8qter
    J Fischer
    Genethon, CNRS URA, Evry, France
    Eur J Hum Genet 6:542-7. 1998
    ..21 at theta = 0. Analysis of homozygosity regions and recombination events places the gene in a region of at least 3 cM, telomeric to D8S1727. A common haplotype was observed in the two families, suggesting a founder effect...
  13. ncbi request reprint Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22
    J Fischer
    CNRS URA 1922, Genethon, Evry, France
    Hum Genet 103:60-4. 1998
    ..Five genes encoding collagen and one encoding a specific procollagen-processing enzyme that map near this interval represent good candidates for the PPD gene...
  14. ncbi request reprint Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1
    Florence Jobard
    Centre National de Genotypage, 91057 Evry, France
    Hum Mol Genet 11:107-13. 2002
    ..It seems likely that the product of one of these enzymes may be the substrate of the other, and that they belong to the same metabolic pathway...
  15. ncbi request reprint Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13
    Fabienne Lesueur
    Centre National de Genotypage, Dermatologic Disease Projects, Evry, France
    J Invest Dermatol 127:829-34. 2007
    ....
  16. ncbi request reprint Confirmation of psoriasis susceptibility loci on chromosome 6p21 and 20p13 in French families
    Fabienne Lesueur
    Centre National de Genotypage, Evry, France
    J Invest Dermatol 127:1403-9. 2007
    ..Although psoriasis and AD rarely occur together, this reinforces the hypothesis that psoriasis is influenced by genes with general effects on inflammation and immunity...
  17. ncbi request reprint Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
    Caroline Lefèvre
    Centre National de Genotypage, Evry, France
    Hum Mol Genet 15:767-76. 2006
    ..Its chiral homolog, 20-carboxy-(S)-trioxilin A3, could be implicated in spastic paraplegia and in the maintenance of neuronal integrity...
  18. doi request reprint The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding
    Martina Schweiger
    Institute of Molecular Biosciences, University of Graz, 8010 Graz, Austria
    J Biol Chem 283:17211-20. 2008
    ..Together, our results demonstrate that the C-terminal region of ATGL is essential for proper localization of the enzyme and suppresses enzyme activity...
  19. ncbi request reprint Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda
    Fabrice Chimienti
    Laboratory for Cutaneous Biology, Dermatology Unit, Beaumont Hospital, CHUV, Lausanne, Switzerland
    Hum Mol Genet 12:3017-24. 2003
    ..This explains both the hyperproliferative as well as the inflammatory clinical phenotype of Mal de Meleda...
  20. ncbi request reprint Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda
    Slaheddine Marrakchi
    CHU Heidi Chaker, Department of Dermatology, Sfax, Tunisia
    J Invest Dermatol 120:351-5. 2003
    ..Four ancestral haplotypes were observed in 69 patients from countries around the Mediterranean basin, and an additional haplotype was found in the German and Scottish patients...
  21. ncbi request reprint Mal de Meleda: genetic haplotype analysis and clinicopathological findings in cases originating from the island of Mljet (Meleda), Croatia
    A Bakija-Konsuo
    Department of Dermatovenereology, Dubrovnik General Hospital, Croatia
    Dermatology 205:32-9. 2002
    ..The candidate region for the gene responsible for this disorder was found on the chromosome 8qter, and the responsible mutations have recently been identified in 12 Algerian and 7 Croatian families...
  22. ncbi request reprint Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation
    Ramesh Srinivasan
    Department of Child Health, King s College Hospital, Denmark Hill, London, United Kingdom
    J Pediatr 144:662-5. 2004
    ..We recommend early assessment for liver disease in DCS...
  23. ncbi request reprint Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease
    Nicolas Schleinitz
    Arch Dermatol 141:798-800. 2005
  24. ncbi request reprint Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect
    Valerie Delague
    Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Am J Med Genet A 138:118-26. 2005
    ..156C --> A (C52X). Interestingly, in the latter families, the C52X mutation was always found associated with a novel c.248G --> A (G83E) variation, suggesting the existence of a founder effect...
  25. doi request reprint A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model
    Stephanie Claus
    Institut de Biologie et de Chimie des Protéines, Centre National de la Recherche Scientifique, Universite Lyon 1, Institut Fédératif de Recherches 128, Lyon, France
    J Invest Dermatol 128:1442-50. 2008
    ..This CL-SE model could be adapted to screen for therapeutically active molecules...
  26. doi request reprint Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease
    Jan Monti
    Max Delbruck Center for Molecular Medicine, Robert Rossle Strasse 10, 13125 Berlin, Germany
    Nat Genet 40:529-37. 2008
    ..We further demonstrated differential regulation of EPHX2 in human heart failure, suggesting a cross-species role for Ephx2 in this complex disease...
  27. pmc Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass
    Enrico Petretto
    Medical Research Council Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 0NN, UK
    Nat Genet 40:546-52. 2008
    ..Taken together, these data implicate Ogn as a key regulator of LVM in rats, mice and humans, and suggest that Ogn modifies the hypertrophic response to extrinsic factors such as hypertension and aortic stenosis...
  28. ncbi request reprint L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1
    Meral Topcu
    Department of Pediatrics, Child Neurology, Hacettepe University Medical Faculty, Ankara, Turkey
    Hum Mol Genet 13:2803-11. 2004
    ..We propose to name the gene duranin. Duranin encodes a putative mitochondrial protein with homology to FAD-dependent oxidoreductases. The functional role of this enzyme in intermediary metabolism in humans remains to be established...