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| Title : High producer variant of lipoprotein lipase may protect from hepatocellular carcinoma in alcohol-associated cirrhosis - Schmalz_2023_JHEP.Rep_5_100684 |
| Author(s) : Schmalz F , Fischer J , Innes H , Buch S , Moller C , Matz-Soja M , von Schonfels W , Kramer B , Langhans B , Kluners A , Soyka M , Stickel F , Nattermann J , Strassburg CP , Berg T , Lutz P , Nischalke HD |
| Ref : JHEP Rep , 5 :100684 , 2023 |
| Abstract : Schmalz_2023_JHEP.Rep_5_100684 |
| ESTHER : Schmalz_2023_JHEP.Rep_5_100684 |
| PubMedSearch : Schmalz_2023_JHEP.Rep_5_100684 |
| PubMedID: 36879887 |
| Gene_locus related to this paper: human-LPL |
| Title : Synthesis, Biological Evaluation and Structure-Activity Relationships of Diflapolin Analogues as Dual sEH\/FLAP Inhibitors - Vieider_2019_ACS.Med.Chem.Lett_10_62 |
| Author(s) : Vieider L , Romp E , Temml V , Fischer J , Kretzer C , Schoenthaler M , Taha A , Hernandez-Olmos V , Sturm S , Schuster D , Werz O , Garscha U , Matuszczak B |
| Ref : ACS Med Chem Lett , 10 :62 , 2019 |
| Abstract : Vieider_2019_ACS.Med.Chem.Lett_10_62 |
| ESTHER : Vieider_2019_ACS.Med.Chem.Lett_10_62 |
| PubMedSearch : Vieider_2019_ACS.Med.Chem.Lett_10_62 |
| PubMedID: 30655948 |
| Title : Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients - Pigg_2016_Acta.Derm.Venereol_96_932 |
| Author(s) : Pigg MH , Bygum A , Ganemo A , Virtanen M , Brandrup F , Zimmer AD , Hotz A , Vahlquist A , Fischer J |
| Ref : Acta Derm Venereol , 96 :932 , 2016 |
| Abstract : Pigg_2016_Acta.Derm.Venereol_96_932 |
| ESTHER : Pigg_2016_Acta.Derm.Venereol_96_932 |
| PubMedSearch : Pigg_2016_Acta.Derm.Venereol_96_932 |
| PubMedID: 27025581 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function - Radner_2014_Biochim.Biophys.Acta_1841_409 |
| Author(s) : Radner FP , Fischer J |
| Ref : Biochimica & Biophysica Acta , 1841 :409 , 2014 |
| Abstract : Radner_2014_Biochim.Biophys.Acta_1841_409 |
| ESTHER : Radner_2014_Biochim.Biophys.Acta_1841_409 |
| PubMedSearch : Radner_2014_Biochim.Biophys.Acta_1841_409 |
| PubMedID: 23928127 |
| Title : Development of an autism severity score for mice using Nlgn4 null mutants as a construct-valid model of heritable monogenic autism - El-Kordi_2013_Behav.Brain.Res_251_41 |
| Author(s) : El-Kordi A , Winkler D , Hammerschmidt K , Kastner A , Krueger D , Ronnenberg A , Ritter C , Jatho J , Radyushkin K , Bourgeron T , Fischer J , Brose N , Ehrenreich H |
| Ref : Behavioural Brain Research , 251 :41 , 2013 |
| Abstract : El-Kordi_2013_Behav.Brain.Res_251_41 |
| ESTHER : El-Kordi_2013_Behav.Brain.Res_251_41 |
| PubMedSearch : El-Kordi_2013_Behav.Brain.Res_251_41 |
| PubMedID: 23183221 |
| Title : Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009 - Oji_2010_J.Am.Acad.Dermatol_63_607 |
| Author(s) : Oji V , Tadini G , Akiyama M , Blanchet Bardon C , Bodemer C , Bourrat E , Coudiere P , DiGiovanna JJ , Elias P , Fischer J , Fleckman P , Gina M , Harper J , Hashimoto T , Hausser I , Hennies HC , Hohl D , Hovnanian A , Ishida-Yamamoto A , Jacyk WK , Leachman S , Leigh I , Mazereeuw-Hautier J , Milstone L , Morice-Picard F , Paller AS , Richard G , Schmuth M , Shimizu H , Sprecher E , Van Steensel M , Taieb A , Toro JR , Vabres P , Vahlquist A , Williams M , Traupe H |
| Ref : J Am Acad Dermatol , 63 :607 , 2010 |
| Abstract : Oji_2010_J.Am.Acad.Dermatol_63_607 |
| ESTHER : Oji_2010_J.Am.Acad.Dermatol_63_607 |
| PubMedSearch : Oji_2010_J.Am.Acad.Dermatol_63_607 |
| PubMedID: 20643494 |
| Title : Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit - Radyushkin_2009_Genes.Brain.Behav_8_416 |
| Author(s) : Radyushkin K , Hammerschmidt K , Boretius S , Varoqueaux F , El-Kordi A , Ronnenberg A , Winter D , Frahm J , Fischer J , Brose N , Ehrenreich H |
| Ref : Genes Brain Behav , 8 :416 , 2009 |
| Abstract : Radyushkin_2009_Genes.Brain.Behav_8_416 |
| ESTHER : Radyushkin_2009_Genes.Brain.Behav_8_416 |
| PubMedSearch : Radyushkin_2009_Genes.Brain.Behav_8_416 |
| PubMedID: 19243448 |
| Title : Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease - Monti_2008_Nat.Genet_40_529 |
| Author(s) : Monti J , Fischer J , Paskas S , Heinig M , Schulz H , Gosele C , Heuser A , Fischer R , Schmidt C , Schirdewan A , Gross V , Hummel O , Maatz H , Patone G , Saar K , Vingron M , Weldon SM , Lindpaintner K , Hammock BD , Rohde K , Dietz R , Cook SA , Schunck WH , Luft FC , Hubner N |
| Ref : Nat Genet , 40 :529 , 2008 |
| Abstract : Monti_2008_Nat.Genet_40_529 |
| ESTHER : Monti_2008_Nat.Genet_40_529 |
| PubMedSearch : Monti_2008_Nat.Genet_40_529 |
| PubMedID: 18443590 |
| Title : The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding - Schweiger_2008_J.Biol.Chem_283_17211 |
| Author(s) : Schweiger M , Schoiswohl G , Lass A , Radner FP , Haemmerle G , Malli R , Graier W , Cornaciu I , Oberer M , Salvayre R , Fischer J , Zechner R , Zimmermann R |
| Ref : Journal of Biological Chemistry , 283 :17211 , 2008 |
| Abstract : Schweiger_2008_J.Biol.Chem_283_17211 |
| ESTHER : Schweiger_2008_J.Biol.Chem_283_17211 |
| PubMedSearch : Schweiger_2008_J.Biol.Chem_283_17211 |
| PubMedID: 18445597 |
| Title : Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism - Jamain_2008_Proc.Natl.Acad.Sci.U.S.A_105_1710 |
| Author(s) : Jamain S , Radyushkin K , Hammerschmidt K , Granon S , Boretius S , Varoqueaux F , Ramanantsoa N , Gallego J , Ronnenberg A , Winter D , Frahm J , Fischer J , Bourgeron T , Ehrenreich H , Brose N |
| Ref : Proc Natl Acad Sci U S A , 105 :1710 , 2008 |
| Abstract : Jamain_2008_Proc.Natl.Acad.Sci.U.S.A_105_1710 |
| ESTHER : Jamain_2008_Proc.Natl.Acad.Sci.U.S.A_105_1710 |
| PubMedSearch : Jamain_2008_Proc.Natl.Acad.Sci.U.S.A_105_1710 |
| PubMedID: 18227507 |
| Gene_locus related to this paper: mouse-4neur |
| Title : The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy - Fischer_2007_Nat.Genet_39_28 |
| Author(s) : Fischer J , Lefevre C , Morava E , Mussini JM , Laforet P , Negre-Salvayre A , Lathrop M , Salvayre R |
| Ref : Nat Genet , 39 :28 , 2007 |
| Abstract : Fischer_2007_Nat.Genet_39_28 |
| ESTHER : Fischer_2007_Nat.Genet_39_28 |
| PubMedSearch : Fischer_2007_Nat.Genet_39_28 |
| PubMedID: 17187067 |
| Title : [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] - |
| Author(s) : Fischer J , Negre-Salvayre A , Salvayre R |
| Ref : Med Sci (Paris) , 23 :575 , 2007 |
| PubMedID: 17631826 |
| Title : Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease - |
| Author(s) : Schleinitz N , Fischer J , Sanchez A , Veit V , Harle JR , Pelissier JF |
| Ref : Arch Dermatol , 141 :798 , 2005 |
| PubMedID: 15967942 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome - Pujol_2005_Br.J.Dermatol_153_838 |
| Author(s) : Pujol RM , Gilaberte M , Toll A , Florensa L , Lloreta J , Gonzalez-Ensenat MA , Fischer J , Azon A |
| Ref : Br J Dermatol , 153 :838 , 2005 |
| Abstract : Pujol_2005_Br.J.Dermatol_153_838 |
| ESTHER : Pujol_2005_Br.J.Dermatol_153_838 |
| PubMedSearch : Pujol_2005_Br.J.Dermatol_153_838 |
| PubMedID: 16181472 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : CGI-58\/ABHD5 gene is mutated in Dorfman-Chanarin syndrome - |
| Author(s) : Caux F , Selma ZB , Laroche L , Prud'homme JF , Fischer J |
| Ref : American Journal of Medicine Genet A , 129A :214 , 2004 |
| PubMedID: 15316960 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation - Srinivasan_2004_J.Pediatr_144_662 |
| Author(s) : Srinivasan R , Hadzic N , Fischer J , Knisely AS |
| Ref : J Pediatr , 144 :662 , 2004 |
| Abstract : Srinivasan_2004_J.Pediatr_144_662 |
| ESTHER : Srinivasan_2004_J.Pediatr_144_662 |
| PubMedSearch : Srinivasan_2004_J.Pediatr_144_662 |
| PubMedID: 15127008 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda - Chimienti_2003_Hum.Mol.Genet_12_3017 |
| Author(s) : Chimienti F , Hogg RC , Plantard L , Lehmann C , Brakch N , Fischer J , Huber M , Bertrand D , Hohl D |
| Ref : Hum Mol Genet , 12 :3017 , 2003 |
| Abstract : Chimienti_2003_Hum.Mol.Genet_12_3017 |
| ESTHER : Chimienti_2003_Hum.Mol.Genet_12_3017 |
| PubMedSearch : Chimienti_2003_Hum.Mol.Genet_12_3017 |
| PubMedID: 14506129 |
| Title : Mutations in CGI-58, the gene encoding a new protein of the esterase\/lipase\/thioesterase subfamily, in Chanarin-Dorfman syndrome - Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| Author(s) : Lefevre C , Jobard F , Caux F , Bouadjar B , Karaduman A , Heilig R , Lakhdar H , Wollenberg A , Verret JL , Weissenbach J , Ozguc M , Lathrop M , Prud'homme JF , Fischer J |
| Ref : American Journal of Human Genetics , 69 :1002 , 2001 |
| Abstract : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| ESTHER : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| PubMedSearch : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| PubMedID: 11590543 |
| Gene_locus related to this paper: human-ABHD5 |