Literature DB >> 25919322

Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de Meleda.

O Adeyo1, M Oberer2, M Ploug3, L G Fong1, S G Young1,4, A P Beigneux1.   

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Year:  2015        PMID： 25919322      PMCID： PMC4624039          DOI： 10.1111/bjd.13868

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  15 in total

1.  Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.

Authors:  Katja Martina Eckl; Howard P Stevens; Gilles G Lestringant; Margaretha Westenberger-Treumann; Heiko Traupe; Britta Hinz; Philippe M Frossard; Rudolf Stadler; Irene M Leigh; Peter Nürnberg; André Reis; Hans Christian Hennies
Journal:  Hum Genet       Date:  2002-10-19       Impact factor: 4.132

2.  Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.

Authors:  Gunilla Olivecrona; Ewa Ehrenborg; Henrik Semb; Elena Makoveichuk; Anna Lindberg; Michael R Hayden; Peter Gin; Brandon S J Davies; Michael M Weinstein; Loren G Fong; Anne P Beigneux; Stephen G Young; Thomas Olivecrona; Olle Hernell
Journal:  J Lipid Res       Date:  2009-12-21       Impact factor: 5.922

3.  Biological effects of SLURP-1 on human keratinocytes.

Authors:  Juan Arredondo; Alexander I Chernyavsky; Robert J Webber; Sergei A Grando
Journal:  J Invest Dermatol       Date:  2005-12       Impact factor: 8.551

4.  SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda.

Authors:  Bertrand Favre; Laure Plantard; Lorène Aeschbach; Noureddine Brakch; Stephanie Christen-Zaech; Pierre A de Viragh; Ann Sergeant; Marcel Huber; Daniel Hohl
Journal:  J Invest Dermatol       Date:  2006-09-28       Impact factor: 8.551

5.  Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase.

Authors:  Anne P Beigneux; Brandon S J Davies; Shelly Tat; Jenny Chen; Peter Gin; Constance V Voss; Michael M Weinstein; André Bensadoun; Clive R Pullinger; Loren G Fong; Stephen G Young
Journal:  J Biol Chem       Date:  2011-04-07       Impact factor: 5.157

6.  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.

Authors:  Slaheddine Marrakchi; Stéphanie Audebert; Bakar Bouadjar; Christina Has; Caroline Lefèvre; Colin Munro; Susan Cure; Florence Jobard; Susanne Morlot; Daniel Hohl; Jean-François Prud'homme; Abdelmadjid Zahaf; Hamida Turki; Judith Fischer
Journal:  J Invest Dermatol       Date:  2003-03       Impact factor: 8.551

7.  Mutations in the gene encoding SLURP-1 in Mal de Meleda.

Authors:  J Fischer; B Bouadjar; R Heilig; M Huber; C Lefèvre; F Jobard; F Macari; A Bakija-Konsuo; F Ait-Belkacem; J Weissenbach; M Lathrop; D Hohl; J F Prud'homme
Journal:  Hum Mol Genet       Date:  2001-04-01       Impact factor: 6.150

8.  Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.

Authors:  Remco Franssen; Stephen G Young; Frank Peelman; Jozef Hertecant; Jeroen A Sierts; Alinda W M Schimmel; André Bensadoun; John J P Kastelein; Loren G Fong; Geesje M Dallinga-Thie; Anne P Beigneux
Journal:  Circ Cardiovasc Genet       Date:  2010-02-02

9.  A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.

Authors:  C Charfeddine; M Mokni; R Ben Mousli; R Elkares; C Bouchlaka; S Boubaker; S Ghedamsi; D Baccouche; A Ben Osman; K Dellagi; S Abdelhak
Journal:  Br J Dermatol       Date:  2003-12       Impact factor: 9.302

10.  Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.

Authors:  Anne P Beigneux; Remco Franssen; André Bensadoun; Peter Gin; Kristan Melford; Jorge Peter; Rosemary L Walzem; Michael M Weinstein; Brandon S J Davies; Jan A Kuivenhoven; John J P Kastelein; Loren G Fong; Geesje M Dallinga-Thie; Stephen G Young
Journal:  Arterioscler Thromb Vasc Biol       Date:  2009-03-19       Impact factor: 8.311
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  8 in total

1.  Did evolution create a flexible ligand-binding cavity in the urokinase receptor through deletion of a plesiotypic disulfide bond?

Authors:  Julie M Leth; Haydyn D T Mertens; Katrine Zinck Leth-Espensen; Thomas J D Jørgensen; Michael Ploug
Journal:  J Biol Chem       Date:  2019-03-20       Impact factor: 5.157

2.  Two Sisters with Mal de Meleda: Case Series Report.

Authors:  Dua Cebeci; Seide Karasel; Görgün Bayraktaroglu
Journal:  Int J Appl Basic Med Res       Date:  2022-05-10

3.  Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Authors:  Liisa Harjama; Kaisa Kettunen; Outi Elomaa; Elisabet Einarsdottir; Hannele Heikkilä; Sirpa Kivirikko; Katriina Lappalainen; Janna Saarela; Caroline Alby; Annamari Ranki; Juha Kere; Smail Hadj-Rabia; Katariina Hannula-Jouppi
Journal:  Acta Derm Venereol       Date:  2020-02-25       Impact factor: 3.875

Review 4.  Organization, evolution and functions of the human and mouse Ly6/uPAR family genes.

Authors:  Chelsea L Loughner; Elspeth A Bruford; Monica S McAndrews; Emili E Delp; Sudha Swamynathan; Shivalingappa K Swamynathan
Journal:  Hum Genomics       Date:  2016-04-21       Impact factor: 4.639

5.  Palmoplantar Keratoderma in Slurp2-Deficient Mice.

Authors:  Christopher M Allan; Shiri Procaccia; Deanna Tran; Yiping Tu; Richard H Barnes; Mikael Larsson; Bernard B Allan; Lorraine C Young; Cynthia Hong; Peter Tontonoz; Loren G Fong; Stephen G Young; Anne P Beigneux
Journal:  J Invest Dermatol       Date:  2015-11-18       Impact factor: 8.551

Review 6.  Evolution and Medical Significance of LU Domain-Containing Proteins.

Authors:  Julie Maja Leth; Katrine Zinck Leth-Espensen; Kristian Kølby Kristensen; Anni Kumari; Anne-Marie Lund Winther; Stephen G Young; Michael Ploug
Journal:  Int J Mol Sci       Date:  2019-06-05       Impact factor: 5.923

7.  Structural Analysis and Deletion Mutagenesis Define Regions of QUIVER/SLEEPLESS that Are Responsible for Interactions with Shaker-Type Potassium Channels and Nicotinic Acetylcholine Receptors.

Authors:  Meilin Wu; Clifford Z Liu; William J Joiner
Journal:  PLoS One       Date:  2016-02-01       Impact factor: 3.240

8.  A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China.

Authors:  Yun Pan; Hengguang Zhao; Aijun Chen; Xin Huang
Journal:  Medicine (Baltimore)       Date:  2017-09       Impact factor: 1.889
  8 in total

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