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Volumn 134, Issue 6, 2014, Pages 1589-1598

Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in slurp1-deficient mice

Author keywords

[No Author keywords available]

Indexed keywords

FAT DROPLET; SECRETED LYMPHOCYTE ANTIGEN 6 UROKINASE TYPE PLASMINOGEN ACTIVATOR RECEPTOR RELATED PROTEIN 1; UNCLASSIFIED DRUG; UROKINASE RECEPTOR; WATER;

EID: 84900853297     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2014.19     Document Type: Article
Times cited : (33)

References (67)
  • 1
    • 0032891247 scopus 로고    scopus 로고
    • Structural and phylogenetic characterization of human SLURP-1, the first secreted mammalian member of the Ly-6/uPAR protein superfamily
    • K. Andermann F. Wattler S. Wattler Structural and phylogenetic characterization of human SLURP-1, the first secreted mammalian member of the Ly-6/uPAR protein superfamily Protein Sci 8 1999 810 819
    • (1999) Protein Sci , vol.8 , pp. 810-819
    • Andermann, K.1    Wattler, F.2    Wattler, S.3
  • 3
    • 33645213787 scopus 로고    scopus 로고
    • Organization and function of septate junctions: an evolutionary perspective
    • S. Banerjee A.D. Sousa M.A. Bhat Organization and function of septate junctions: an evolutionary perspective Cell Biochem Biophys 46 2006 65 77
    • (2006) Cell Biochem Biophys , vol.46 , pp. 65-77
    • Banerjee, S.1    Sousa, A.D.2    Bhat, M.A.3
  • 4
    • 33947573537 scopus 로고    scopus 로고
    • Glycosylphosphatidylinositol-anchored high density lipoprotein–binding protein 1 plays a critical role in the lipolytic processing of chylomicrons
    • A.P. Beigneux B. Davies P. Gin Glycosylphosphatidylinositol-anchored high density lipoprotein–binding protein 1 plays a critical role in the lipolytic processing of chylomicrons Cell Metab 5 2007 279 291
    • (2007) Cell Metab , vol.5 , pp. 279-291
    • Beigneux, A.P.1    Davies, B.2    Gin, P.3
  • 5
    • 79957585342 scopus 로고    scopus 로고
    • Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase
    • A.P. Beigneux B.S. Davies S. Tat Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase J Biol Chem 286 2011 19735 19743
    • (2011) J Biol Chem , vol.286 , pp. 19735-19743
    • Beigneux, A.P.1    Davies, B.S.2    Tat, S.3
  • 6
    • 48549106421 scopus 로고    scopus 로고
    • Glycosylation of Asn-76 in mouse GPIHBP1 is critical for its appearance on the cell surface and the binding of chylomicrons and lipoprotein lipase
    • A.P. Beigneux P. Gin B.S. Davies Glycosylation of Asn-76 in mouse GPIHBP1 is critical for its appearance on the cell surface and the binding of chylomicrons and lipoprotein lipase J Lipid Res 49 2008 1312 1321
    • (2008) J Lipid Res , vol.49 , pp. 1312-1321
    • Beigneux, A.P.1    Gin, P.2    Davies, B.S.3
  • 7
    • 71049179343 scopus 로고    scopus 로고
    • Highly conserved cysteines within the Ly6 domain of GPIHBP1 are crucial for the binding of lipoprotein lipase
    • A.P. Beigneux P. Gin B.S.J. Davies Highly conserved cysteines within the Ly6 domain of GPIHBP1 are crucial for the binding of lipoprotein lipase J Biol Chem 284 2009 30240 30247
    • (2009) J Biol Chem , vol.284 , pp. 30240-30247
    • Beigneux, A.P.1    Gin, P.2    Davies, B.S.J.3
  • 8
    • 34047097326 scopus 로고    scopus 로고
    • Obesity resistance of the stearoyl-CoA desaturase-deficient (scd1-/-) mouse results from disruption of the epidermal lipid barrier and adaptive thermoregulation
    • E. Binczek B. Jenke B. Holz Obesity resistance of the stearoyl-CoA desaturase-deficient (scd1-/-) mouse results from disruption of the epidermal lipid barrier and adaptive thermoregulation Biol Chem 388 2007 405 418
    • (2007) Biol Chem , vol.388 , pp. 405-418
    • Binczek, E.1    Jenke, B.2    Holz, B.3
  • 9
    • 0033769957 scopus 로고    scopus 로고
    • Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda
    • B. Bouadjar S. Benmazouzia J.F. Prud'homme Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda Arch Dermatol 136 2000 1247 1252
    • (2000) Arch Dermatol , vol.136 , pp. 1247-1252
    • Bouadjar, B.1    Benmazouzia, S.2    Prud'homme, J.F.3
  • 10
    • 75649119336 scopus 로고    scopus 로고
    • Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma
    • P.E. Bowden Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma J Invest Dermatol 130 2010 336 338
    • (2010) J Invest Dermatol , vol.130 , pp. 336-338
    • Bowden, P.E.1
  • 11
    • 0029075456 scopus 로고
    • The human E48 antigen, highly homologous to the murine Ly-6 antigen ThB, is a GPI-anchored molecule apparently involved in keratinocyte cell-cell adhesion
    • R.H. Brakenhoff M. Gerretsen E.M. Knippels The human E48 antigen, highly homologous to the murine Ly-6 antigen ThB, is a GPI-anchored molecule apparently involved in keratinocyte cell-cell adhesion J Cell Biol 129 1995 1677 1689
    • (1995) J Cell Biol , vol.129 , pp. 1677-1689
    • Brakenhoff, R.H.1    Gerretsen, M.2    Knippels, E.M.3
  • 12
    • 82755194912 scopus 로고    scopus 로고
    • Cell-cell connectivity: desmosomes and disease
    • M.A. Brooke D. Nitoiu D.P. Kelsell Cell-cell connectivity: desmosomes and disease J Pathol 226 2012 158 171
    • (2012) J Pathol , vol.226 , pp. 158-171
    • Brooke, M.A.1    Nitoiu, D.2    Kelsell, D.P.3
  • 13
    • 9144265810 scopus 로고    scopus 로고
    • A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia
    • C. Charfeddine M. Mokni R. Ben Mousli A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia Br J Dermatol 149 2003 1108 1115
    • (2003) Br J Dermatol , vol.149 , pp. 1108-1115
    • Charfeddine, C.1    Mokni, M.2    Ben Mousli, R.3
  • 14
    • 78349233457 scopus 로고    scopus 로고
    • Upregulation of nuclear factor-kappaB expression by SLURP-1 is mediated by alpha7-nicotinic acetylcholine receptor and involves both ionic events and activation of protein kinases
    • A.I. Chernyavsky J. Arredondo V. Galitovskiy Upregulation of nuclear factor-kappaB expression by SLURP-1 is mediated by alpha7-nicotinic acetylcholine receptor and involves both ionic events and activation of protein kinases Am J Physiol Cell Physiol 299 2010 C903 C911
    • (2010) Am J Physiol Cell Physiol , vol.299 , pp. C903-C911
    • Chernyavsky, A.I.1    Arredondo, J.2    Galitovskiy, V.3
  • 15
    • 0344443178 scopus 로고    scopus 로고
    • Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda
    • F. Chimienti R.C. Hogg L. Plantard Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda Hum Mol Genet 12 2003 3017 3024
    • (2003) Hum Mol Genet , vol.12 , pp. 3017-3024
    • Chimienti, F.1    Hogg, R.C.2    Plantard, L.3
  • 16
    • 84864773742 scopus 로고    scopus 로고
    • Populations of malodor-forming bacteria and identification of volatile components in triolein-soiled cotton fabric
    • H. Chung H. Seok Populations of malodor-forming bacteria and identification of volatile components in triolein-soiled cotton fabric Fibers Polym 13 2012 740 747
    • (2012) Fibers Polym , vol.13 , pp. 740-747
    • Chung, H.1    Seok, H.2
  • 17
    • 80053156917 scopus 로고    scopus 로고
    • Protein 4.1B contributes to the organization of peripheral myelinated axons
    • C. Cifuentes-Diaz F. Chareyre M. Garcia Protein 4.1B contributes to the organization of peripheral myelinated axons PLoS One 6 2011 e25043
    • (2011) PLoS One , vol.6 , pp. e25043
    • Cifuentes-Diaz, C.1    Chareyre, F.2    Garcia, M.3
  • 18
    • 77956628122 scopus 로고    scopus 로고
    • GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries
    • B.S.J. Davies A.P. Beigneux R.H. Barnes II GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries Cell Metab 12 2010 42 52
    • (2010) Cell Metab , vol.12 , pp. 42-52
    • Davies, B.S.J.1    Beigneux, A.P.2    Barnes, R.H.3
  • 19
    • 33747332788 scopus 로고    scopus 로고
    • Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome)
    • M. Demerjian D.A. Crumrine L.M. Milstone Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome) J Invest Dermatol 126 2006 2032 2038
    • (2006) J Invest Dermatol , vol.126 , pp. 2032-2038
    • Demerjian, M.1    Crumrine, D.A.2    Milstone, L.M.3
  • 20
    • 77954162482 scopus 로고    scopus 로고
    • Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E
    • F. Dequen M. Filali R.C. Lariviere Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E Hum Mol Genet 19 2010 2616 2629
    • (2010) Hum Mol Genet , vol.19 , pp. 2616-2629
    • Dequen, F.1    Filali, M.2    Lariviere, R.C.3
  • 21
    • 0037209241 scopus 로고    scopus 로고
    • Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates
    • K.M. Eckl H.P. Stevens G.G. Lestringant Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates Hum Genet 112 2003 50 56
    • (2003) Hum Genet , vol.112 , pp. 50-56
    • Eckl, K.M.1    Stevens, H.P.2    Lestringant, G.G.3
  • 22
    • 44949151890 scopus 로고    scopus 로고
    • Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism
    • P.M. Elias M.L. Williams W.M. Holleran Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism J Lipid Res 49 2008 697 714
    • (2008) J Lipid Res , vol.49 , pp. 697-714
    • Elias, P.M.1    Williams, M.L.2    Holleran, W.M.3
  • 23
    • 33846206457 scopus 로고    scopus 로고
    • SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda
    • B. Favre L. Plantard L. Aeschbach SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda J Invest Dermatol 127 2007 301 308
    • (2007) J Invest Dermatol , vol.127 , pp. 301-308
    • Favre, B.1    Plantard, L.2    Aeschbach, L.3
  • 24
    • 0035311667 scopus 로고    scopus 로고
    • Mutations in the gene encoding SLURP-1 in Mal de Meleda
    • J. Fischer B. Bouadjar R. Heilig Mutations in the gene encoding SLURP-1 in Mal de Meleda Hum Mol Genet 10 2001 875 880
    • (2001) Hum Mol Genet , vol.10 , pp. 875-880
    • Fischer, J.1    Bouadjar, B.2    Heilig, R.3
  • 25
    • 77952575107 scopus 로고    scopus 로고
    • Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects
    • R. Franssen S.G. Young F. Peelman Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects Circ Cardiovasc Genet 3 2010 169 178
    • (2010) Circ Cardiovasc Genet , vol.3 , pp. 169-178
    • Franssen, R.1    Young, S.G.2    Peelman, F.3
  • 26
    • 0042171600 scopus 로고    scopus 로고
    • Molecular evolution and phylogeny of elapid snake venom three-finger toxins
    • B.G. Fry W. Wuster R.M. Kini Molecular evolution and phylogeny of elapid snake venom three-finger toxins J Mol Evol 57 2003 110 129
    • (2003) J Mol Evol , vol.57 , pp. 110-129
    • Fry, B.G.1    Wuster, W.2    Kini, R.M.3
  • 27
    • 44349135549 scopus 로고    scopus 로고
    • Conserved structural determinants in three-fingered protein domains
    • A. Galat G. Gross P. Drevet Conserved structural determinants in three-fingered protein domains FEBS J 275 2008 3207 3225
    • (2008) FEBS J , vol.275 , pp. 3207-3225
    • Galat, A.1    Gross, G.2    Drevet, P.3
  • 28
    • 41849099298 scopus 로고    scopus 로고
    • Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness
    • L.J. Hayward J.S. Kim M.Y. Lee Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness J Clin Invest 118 2008 1437 1449
    • (2008) J Clin Invest , vol.118 , pp. 1437-1449
    • Hayward, L.J.1    Kim, J.S.2    Lee, M.Y.3
  • 29
    • 0034099846 scopus 로고    scopus 로고
    • A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
    • K. Heathcote P. Syrris N.D. Carter A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350) J Med Genet 37 2000 50 51
    • (2000) J Med Genet , vol.37 , pp. 50-51
    • Heathcote, K.1    Syrris, P.2    Carter, N.D.3
  • 30
    • 79952650312 scopus 로고    scopus 로고
    • The Ly6 protein coiled is required for septate junction and blood brain barrier organisation in Drosophila
    • A. Hijazi M. Haenlin L. Waltzer The Ly6 protein coiled is required for septate junction and blood brain barrier organisation in Drosophila PLoS One 6 2011 e17763
    • (2011) PLoS One , vol.6 , pp. e17763
    • Hijazi, A.1    Haenlin, M.2    Waltzer, L.3
  • 31
    • 69549124695 scopus 로고    scopus 로고
    • boudin is required for septate junction organisation in Drosophila and codes for a diffusible protein of the Ly6 superfamily
    • A. Hijazi W. Masson B. Auge boudin is required for septate junction organisation in Drosophila and codes for a diffusible protein of the Ly6 superfamily Development 136 2009 2199 2209
    • (2009) Development , vol.136 , pp. 2199-2209
    • Hijazi, A.1    Masson, W.2    Auge, B.3
  • 32
    • 0037075542 scopus 로고    scopus 로고
    • Novel modulation of neuronal nicotinic acetylcholine receptors by association with the endogenous prototoxin lynx1
    • I. Ibanez-Tallon J.M. Miwa H.L. Wang Novel modulation of neuronal nicotinic acetylcholine receptors by association with the endogenous prototoxin lynx1 Neuron 33 2002 893 903
    • (2002) Neuron , vol.33 , pp. 893-903
    • Ibanez-Tallon, I.1    Miwa, J.M.2    Wang, H.L.3
  • 33
    • 0028205728 scopus 로고
    • Three-dimensional solution structure of the extracellular region of the complement regulatory protein CD59, a new cell-surface protein domain related to snake venom neurotoxins
    • B. Kieffer P.C. Driscoll I.D. Campbell Three-dimensional solution structure of the extracellular region of the complement regulatory protein CD59, a new cell-surface protein domain related to snake venom neurotoxins Biochemistry 33 1994 4471 4482
    • (1994) Biochemistry , vol.33 , pp. 4471-4482
    • Kieffer, B.1    Driscoll, P.C.2    Campbell, I.D.3
  • 34
    • 84868522350 scopus 로고    scopus 로고
    • The Ly6 neurotoxin-like molecule target of wit regulates spontaneous neurotransmitter release at the developing neuromuscular junction in Drosophila
    • N.C. Kim G. Marques The Ly6 neurotoxin-like molecule target of wit regulates spontaneous neurotransmitter release at the developing neuromuscular junction in Drosophila Dev Neurobiol 72 2012 1541 1558
    • (2012) Dev Neurobiol , vol.72 , pp. 1541-1558
    • Kim, N.C.1    Marques, G.2
  • 35
    • 0036381024 scopus 로고    scopus 로고
    • Molecular moulds with multiple missions: functional sites in three-finger toxins
    • R.M. Kini Molecular moulds with multiple missions: functional sites in three-finger toxins Clin Exp Pharmacol Physiol 29 2002 815 822
    • (2002) Clin Exp Pharmacol Physiol , vol.29 , pp. 815-822
    • Kini, R.M.1
  • 36
    • 0037272331 scopus 로고    scopus 로고
    • Lipid composition of outer stratum corneum in hereditary palmoplantar keratodermas
    • W. Kuster B. Melnik H. Traupe Lipid composition of outer stratum corneum in hereditary palmoplantar keratodermas Dermatology 206 2003 131 135
    • (2003) Dermatology , vol.206 , pp. 131-135
    • Kuster, W.1    Melnik, B.2    Traupe, H.3
  • 37
    • 79955721148 scopus 로고    scopus 로고
    • Brain regions and genes affecting limb-clasping responses
    • R. Lalonde C. Strazielle Brain regions and genes affecting limb-clasping responses Brain Res Rev 67 2011 252 259
    • (2011) Brain Res Rev , vol.67 , pp. 252-259
    • Lalonde, R.1    Strazielle, C.2
  • 38
    • 84875951958 scopus 로고    scopus 로고
    • Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C
    • S.M. Lee D. Sha A.A. Mohammed Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C Hum Mol Genet 22 2013 1755 1770
    • (2013) Hum Mol Genet , vol.22 , pp. 1755-1770
    • Lee, S.M.1    Sha, D.2    Mohammed, A.A.3
  • 39
    • 68749091392 scopus 로고    scopus 로고
    • Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree
    • X.P. Liu J. Ling H. Xiong Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree J Eur Acad Dermatol Venereol 23 2009 1079 1082
    • (2009) J Eur Acad Dermatol Venereol , vol.23 , pp. 1079-1082
    • Liu, X.P.1    Ling, J.2    Xiong, H.3
  • 40
    • 0032790899 scopus 로고    scopus 로고
    • A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
    • E. Maestrini B.P. Korge J. Ocana-Sierra A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families Hum Mol Genet 8 1999 1237 1243
    • (1999) Hum Mol Genet , vol.8 , pp. 1237-1243
    • Maestrini, E.1    Korge, B.P.2    Ocana-Sierra, J.3
  • 41
    • 0345701262 scopus 로고    scopus 로고
    • 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
    • S. Marrakchi S. Audebert B. Bouadjar 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 J Invest Dermatol 120 2003 351 355
    • (2003) J Invest Dermatol , vol.120 , pp. 351-355
    • Marrakchi, S.1    Audebert, S.2    Bouadjar, B.3
  • 42
    • 9144244224 scopus 로고    scopus 로고
    • ARS Component B: structural characterization, tissue expression and regulation of the gene and protein (SLURP-1) associated with Mal de Meleda
    • R. Mastrangeli S. Donini C.A. Kelton ARS Component B: structural characterization, tissue expression and regulation of the gene and protein (SLURP-1) associated with Mal de Meleda Eur J Dermatol 13 2003 560 570
    • (2003) Eur J Dermatol , vol.13 , pp. 560-570
    • Mastrangeli, R.1    Donini, S.2    Kelton, C.A.3
  • 43
    • 33748081791 scopus 로고    scopus 로고
    • The prototoxin lynx1 acts on nicotinic acetylcholine receptors to balance neuronal activity and survival in vivo
    • J.M. Miwa T.R. Stevens S.L. King The prototoxin lynx1 acts on nicotinic acetylcholine receptors to balance neuronal activity and survival in vivo Neuron 51 2006 587 600
    • (2006) Neuron , vol.51 , pp. 587-600
    • Miwa, J.M.1    Stevens, T.R.2    King, S.L.3
  • 44
    • 67349193646 scopus 로고    scopus 로고
    • Primary sensory neuronal expression of SLURP-1, an endogenous nicotinic acetylcholine receptor ligand
    • Y. Moriwaki Y. Watanabe T. Shinagawa Primary sensory neuronal expression of SLURP-1, an endogenous nicotinic acetylcholine receptor ligand Neurosci Res 64 2009 403 412
    • (2009) Neurosci Res , vol.64 , pp. 403-412
    • Moriwaki, Y.1    Watanabe, Y.2    Shinagawa, T.3
  • 45
    • 84866286909 scopus 로고    scopus 로고
    • Mal de meleda with lip involvement: a report of two cases
    • A.K. Nath S. Chaudhuri D.M. Thappa Mal de meleda with lip involvement: a report of two cases Indian J Dermatol 57 2012 390 393
    • (2012) Indian J Dermatol , vol.57 , pp. 390-393
    • Nath, A.K.1    Chaudhuri, S.2    Thappa, D.M.3
  • 46
    • 77954648168 scopus 로고    scopus 로고
    • Crooked, coiled and crimpled are three Ly6-like proteins required for proper localization of septate junction components
    • A. Nilton K. Oshima F. Zare Crooked, coiled and crimpled are three Ly6-like proteins required for proper localization of septate junction components Development 137 2010 2427 2437
    • (2010) Development , vol.137 , pp. 2427-2437
    • Nilton, A.1    Oshima, K.2    Zare, F.3
  • 47
    • 80052094263 scopus 로고    scopus 로고
    • A sporadic case of Mal de Meleda caused by gene mutation in SLURP-1 in Korea
    • Y.J. Oh H.E. Lee J.Y. Ko A sporadic case of Mal de Meleda caused by gene mutation in SLURP-1 in Korea Annals Dermatol 23 2011 396 399
    • (2011) Annals Dermatol , vol.23 , pp. 396-399
    • Oh, Y.J.1    Lee, H.E.2    Ko, J.Y.3
  • 48
    • 78649854653 scopus 로고    scopus 로고
    • Unexpected expression pattern for glycosylphosphatidylinositol-anchored HDL-binding protein 1 (GPIHBP1) in mouse tissues revealed by positron emission tomography scanning
    • T. Olafsen S.G. Young B.S. Davies Unexpected expression pattern for glycosylphosphatidylinositol-anchored HDL-binding protein 1 (GPIHBP1) in mouse tissues revealed by positron emission tomography scanning J Biol Chem 285 2010 39239 39248
    • (2010) J Biol Chem , vol.285 , pp. 39239-39248
    • Olafsen, T.1    Young, S.G.2    Davies, B.S.3
  • 49
    • 0029993449 scopus 로고    scopus 로고
    • Know your neighbors: three phenotypes in null mutants of the myogenic bHLH gene MRF4
    • E.N. Olson H.-H. Arnold P.W.J. Rigby Know your neighbors: three phenotypes in null mutants of the myogenic bHLH gene MRF4 Cell 85 1996 1 4
    • (1996) Cell , vol.85 , pp. 1-4
    • Olson, E.N.1    Arnold, H.-H.2    Rigby, P.W.J.3
  • 51
    • 79956106129 scopus 로고    scopus 로고
    • Fat in the skin: triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease
    • F.P. Radner S. Grond G. Haemmerle Fat in the skin: triacylglycerol metabolism in keratinocytes and its role in the development of neutral lipid storage disease Dermatoendocrinology 3 2011 77 83
    • (2011) Dermatoendocrinology , vol.3 , pp. 77-83
    • Radner, F.P.1    Grond, S.2    Haemmerle, G.3
  • 52
    • 77951212321 scopus 로고    scopus 로고
    • Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58)
    • F.P. Radner I.E. Streith G. Schoiswohl Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58) J Biol Chem 285 2010 7300 7311
    • (2010) J Biol Chem , vol.285 , pp. 7300-7311
    • Radner, F.P.1    Streith, I.E.2    Schoiswohl, G.3
  • 53
    • 33644769171 scopus 로고    scopus 로고
    • A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type
    • E.S. Richardson J.B. Lee P.H. Hyde A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type J Invest Dermatol 126 2006 79 84
    • (2006) J Invest Dermatol , vol.126 , pp. 79-84
    • Richardson, E.S.1    Lee, J.B.2    Hyde, P.H.3
  • 54
    • 0022437218 scopus 로고
    • Sudan-IV-positive material in fingernails of patient affected with mal de Meleda
    • T. Salamon Sudan-IV-positive material in fingernails of patient affected with mal de Meleda Dermatologica 173 1986 199 200
    • (1986) Dermatologica , vol.173 , pp. 199-200
    • Salamon, T.1
  • 55
    • 0021182664 scopus 로고
    • Electron microscopic study of fingernails in the disease of Mljet (Mal de Meleda)
    • T. Salamon B. Plavsic A. Nikulin Electron microscopic study of fingernails in the disease of Mljet (Mal de Meleda) Acta Dermato-venereologica 64 1984 302 307
    • (1984) Acta Dermato-venereologica , vol.64 , pp. 302-307
    • Salamon, T.1    Plavsic, B.2    Nikulin, A.3
  • 56
    • 67749111842 scopus 로고    scopus 로고
    • Skin-specific deletion of stearoyl-CoA desaturase-1 alters skin lipid composition and protects mice from high fat diet-induced obesity
    • H. Sampath M.T. Flowers X. Liu Skin-specific deletion of stearoyl-CoA desaturase-1 alters skin lipid composition and protects mice from high fat diet-induced obesity J Biol Chem 284 2009 19961 19973
    • (2009) J Biol Chem , vol.284 , pp. 19961-19973
    • Sampath, H.1    Flowers, M.T.2    Liu, X.3
  • 57
    • 70350349886 scopus 로고    scopus 로고
    • Novel role of FATP1 in mitochondrial fatty acid oxidation in skeletal muscle cells
    • D. Sebastian M. Guitart C. Garcia-Martinez Novel role of FATP1 in mitochondrial fatty acid oxidation in skeletal muscle cells J Lipid Res 50 2009 1789 1799
    • (2009) J Lipid Res , vol.50 , pp. 1789-1799
    • Sebastian, D.1    Guitart, M.2    Garcia-Martinez, C.3
  • 58
    • 0029019464 scopus 로고
    • Gene targeting approaches to complex genetic diseases: Atherosclerosis and essential hypertension
    • O. Smithies N. Maeda Gene targeting approaches to complex genetic diseases: Atherosclerosis and essential hypertension Proc Natl Acad Sci USA 92 1995 5266 5272
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 5266-5272
    • Smithies, O.1    Maeda, N.2
  • 59
    • 74749109402 scopus 로고    scopus 로고
    • Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome
    • M. Ujihara K. Nakajima M. Yamamoto Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome J Dermatol Sci 57 2010 102 107
    • (2010) J Dermatol Sci , vol.57 , pp. 102-107
    • Ujihara, M.1    Nakajima, K.2    Yamamoto, M.3
  • 60
    • 79956357158 scopus 로고    scopus 로고
    • Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1
    • C.V. Voss B.S. Davies S. Tat Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1 Proc Natl Acad Sci USA 108 2011 7980 7984
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 7980-7984
    • Voss, C.V.1    Davies, B.S.2    Tat, S.3
  • 61
    • 84856210653 scopus 로고    scopus 로고
    • Reciprocal metabolic perturbations in the adipose tissue and liver of GPIHBP1-deficient mice
    • M.M. Weinstein C.N. Goulbourne B.S. Davies Reciprocal metabolic perturbations in the adipose tissue and liver of GPIHBP1-deficient mice Arterioscler Thromb Vasc Biol 32 2012 230 235
    • (2012) Arterioscler Thromb Vasc Biol , vol.32 , pp. 230-235
    • Weinstein, M.M.1    Goulbourne, C.N.2    Davies, B.S.3
  • 62
    • 78149284665 scopus 로고    scopus 로고
    • Cholesterol intake modulates plasma triglyceride levels in glycosylphosphatidylinositol HDL-binding protein 1-deficient mice
    • M.M. Weinstein Y. Tu A.P. Beigneux Cholesterol intake modulates plasma triglyceride levels in glycosylphosphatidylinositol HDL-binding protein 1-deficient mice Arterioscler Thromb Vasc Biol 30 2010 2106 2113
    • (2010) Arterioscler Thromb Vasc Biol , vol.30 , pp. 2106-2113
    • Weinstein, M.M.1    Tu, Y.2    Beigneux, A.P.3
  • 63
    • 58049211382 scopus 로고    scopus 로고
    • Abnormal patterns of lipoprotein lipase release into the plasma in GPIHBP1-deficient mice
    • M.M. Weinstein L. Yin A.P. Beigneux Abnormal patterns of lipoprotein lipase release into the plasma in GPIHBP1-deficient mice J Biol Chem 283 2008 34511 34518
    • (2008) J Biol Chem , vol.283 , pp. 34511-34518
    • Weinstein, M.M.1    Yin, L.2    Beigneux, A.P.3
  • 65
    • 67949111223 scopus 로고    scopus 로고
    • A novel role for fatty acid transport protein 1 in the regulation of tricarboxylic acid cycle and mitochondrial function in 3T3-L1 adipocytes
    • B.M. Wiczer D.A. Bernlohr A novel role for fatty acid transport protein 1 in the regulation of tricarboxylic acid cycle and mitochondrial function in 3T3-L1 adipocytes J Lipid Res 50 2009 2502 2513
    • (2009) J Lipid Res , vol.50 , pp. 2502-2513
    • Wiczer, B.M.1    Bernlohr, D.A.2
  • 66
    • 40949147805 scopus 로고    scopus 로고
    • Perturbed desmosomal cadherin expression in grainy head-like 1-null mice
    • T. Wilanowski J. Caddy S.B. Ting Perturbed desmosomal cadherin expression in grainy head-like 1-null mice EMBO J 27 2008 886 897
    • (2008) EMBO J , vol.27 , pp. 886-897
    • Wilanowski, T.1    Caddy, J.2    Ting, S.B.3
  • 67
    • 84870064725 scopus 로고    scopus 로고
    • The role of connexins in ear and skin physiology—functional insights from disease-associated mutations
    • J. Xu B.J. Nicholson The role of connexins in ear and skin physiology—functional insights from disease-associated mutations Biochim Biophys Acta 1828 2013 167 178
    • (2013) Biochim Biophys Acta , vol.1828 , pp. 167-178
    • Xu, J.1    Nicholson, B.J.2


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