Literature DB >> 20107740

A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.

Beyhan Tüysüz, David Ojalvo, Cem Mat, Giovanna Zambruno, Claudia Covaciu, Daniele Castiglia, Marina D'Alessio.   

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Year:  2010        PMID: 20107740     DOI: 10.2340/00015555-0769

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN: 0001-5555            Impact factor:   4.437


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  5 in total

1.  Gingipains of Porphyromonas gingivalis Affect the Stability and Function of Serine Protease Inhibitor of Kazal-type 6 (SPINK6), a Tissue Inhibitor of Human Kallikreins.

Authors:  Karolina Plaza; Magdalena Kalinska; Oliwia Bochenska; Ulf Meyer-Hoffert; Zhihong Wu; Jan Fischer; Katherine Falkowski; Laura Sasiadek; Ewa Bielecka; Barbara Potempa; Andrzej Kozik; Jan Potempa; Tomasz Kantyka
Journal:  J Biol Chem       Date:  2016-06-27       Impact factor: 5.157

2.  Spink13, an epididymis-specific gene of the Kazal-type serine protease inhibitor (SPINK) family, is essential for the acrosomal integrity and male fertility.

Authors:  Li Ma; Heguo Yu; Zimei Ni; Shuanggang Hu; Wubin Ma; Chen Chu; Qiang Liu; Yonglian Zhang
Journal:  J Biol Chem       Date:  2013-02-19       Impact factor: 5.157

Review 3.  Netherton Syndrome: A Genotype-Phenotype Review.

Authors:  Constantina A Sarri; Angeliki Roussaki-Schulze; Yiannis Vasilopoulos; Efterpi Zafiriou; Aikaterini Patsatsi; Costas Stamatis; Polyxeni Gidarokosta; Dimitrios Sotiriadis; Theologia Sarafidou; Zissis Mamuris
Journal:  Mol Diagn Ther       Date:  2017-04       Impact factor: 4.074

4.  A novel SPINK5 donor splice site variant in a child with Netherton syndrome.

Authors:  Dillon Mintoff; Isabella Borg; Julia Vornweg; Liam Mercieca; Rijad Merdzanic; Johannes Numrich; Susan Aquilina; Nikolai Paul Pace; Judith Fischer
Journal:  Mol Genet Genomic Med       Date:  2021-02-03       Impact factor: 2.183

5.  A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report.

Authors:  E Erden; A C Ceylan; S Emre
Journal:  Balkan J Med Genet       Date:  2020-08-26       Impact factor: 0.519

  5 in total

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