Literature DB >> 31944258

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Liisa Harjama1, 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.   

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Year:  2020        PMID： 31944258      PMCID： PMC9128877          DOI： 10.2340/00015555-3404

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  12 in total

1.  Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis.

Authors:  I Kastl; I Anton-Lamprecht; P Gamborg Nielsen
Journal:  Arch Dermatol Res       Date:  1990       Impact factor: 3.017

2.  Genetic linkage of Meleda disease to chromosome 8qter.

Authors:  J Fischer; B Bouadjar; R Heilig; C Fizames; J F Prud'homme; J Weissenbach
Journal:  Eur J Hum Genet       Date:  1998 Nov-Dec       Impact factor: 4.246

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

Authors:  O Adeyo; M Oberer; M Ploug; L G Fong; S G Young; A P Beigneux
Journal:  Br J Dermatol       Date:  2015-08-19       Impact factor: 9.302

4.  First Mal de Meleda report in Chinese Mainland: two families with a recurrent homozygous missense mutation in SLURP-1.

Authors:  J Zhang; R Cheng; C Ni; J Liang; M Li; Z Yao
Journal:  J Eur Acad Dermatol Venereol       Date:  2015-03-12       Impact factor: 6.166

5.  Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene.

Authors:  R G L Nellen; P M Steijlen; H C Hennies; J Fischer; C S Munro; M F Jonkman; M A M van Steensel; M van Geel
Journal:  Br J Dermatol       Date:  2013-04-02       Impact factor: 9.302

6.  The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.

Authors:  Mbarka Bchetnia; Mariam Bozgia; Nadia Laroussi; Ahlem Sabrine Ben Brick; Cherine Charfeddine; Nizar Ben Halim; Mourad Mokni; Mohamed Samir Boubaker; Sonia Abdelhak
Journal:  Int J Dermatol       Date:  2014-04-16       Impact factor: 2.736

7.  Human neuromodulator SLURP-1: bacterial expression, binding to muscle-type nicotinic acetylcholine receptor, secondary structure, and conformational heterogeneity in solution.

Authors:  M A Shulepko; E N Lyukmanova; A S Paramonov; A A Lobas; Z O Shenkarev; I E Kasheverov; D A Dolgikh; V I Tsetlin; A S Arseniev; M P Kirpichnikov
Journal:  Biochemistry (Mosc)       Date:  2013-02       Impact factor: 2.487

8.  Hereditary palmoplantar keratoderma in the northernmost county of Sweden.

Authors:  P Gamborg Nielsen
Journal:  Acta Derm Venereol       Date:  1985       Impact factor: 4.437

9.  Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden.

Authors:  P Gamborg Nielsen
Journal:  Clin Genet       Date:  1985-11       Impact factor: 4.438

10.  Human Secreted Ly-6/uPAR Related Protein-1 (SLURP-1) Is a Selective Allosteric Antagonist of α7 Nicotinic Acetylcholine Receptor.

Authors:  Ekaterina N Lyukmanova; Mikhail A Shulepko; Denis Kudryavtsev; Maxim L Bychkov; Dmitrii S Kulbatskii; Igor E Kasheverov; Maria V Astapova; Alexey V Feofanov; Morten S Thomsen; Jens D Mikkelsen; Zakhar O Shenkarev; Victor I Tsetlin; Dmitry A Dolgikh; Mikhail P Kirpichnikov
Journal:  PLoS One       Date:  2016-02-23       Impact factor: 3.240
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