Literature DB >> 17273164

Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1.

Daisuke Sawamura, Maki Goto, Kaori Sakai, Hideki Nakamura, James R McMillan, Masashi Akiyama, Osamu Shirado, Noritaka Oyama, Masataka Satoh, Fumio Kaneko, Toshiaki Takahashi, Hidehiko Konno, Hiroshi Shimizu.   

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Year:  2007        PMID： 17273164     DOI： 10.1038/sj.jid.5700707

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  7 in total

Review 1.  Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.

Authors:  Jana Kyrova; Lenka Kopeckova; Hana Buckova; Lenka Mrazova; Karel Vesely; Marketa Hermanova; Hana Oslejskova; Lenka Fajkusova
Journal:  J Dermatol Case Rep       Date:  2016-11-30

Review 2.  Epidermolysis bullosa with pyloric atresia.

Authors:  Hye Jin Chung; Jouni Uitto
Journal:  Dermatol Clin       Date:  2010-01       Impact factor: 3.478

3.  Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.

Authors:  Ken Natsuga; Wataru Nishie; Satoru Shinkuma; Ken Arita; Hideki Nakamura; Makiko Ohyama; Hitoshi Osaka; Takeshi Kambara; Yoshiaki Hirako; Hiroshi Shimizu
Journal:  Hum Mutat       Date:  2010-10       Impact factor: 4.878

4.  A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.

Authors:  Zoe Argyropoulou; Lu Liu; Linda Ozoemena; Claudia C Branco; Raquel Senra; Ângela Reis-Rego; Luisa Mota-Vieira
Journal:  BMC Dermatol       Date:  2018-01-20

Review 5.  Plectin in Skin Fragility Disorders.

Authors:  Dimitra Kiritsi; Leonidas Tsakiris; Franziska Schauer
Journal:  Cells       Date:  2021-10-14       Impact factor: 6.600

Review 6.  Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.

Authors:  Franciscus C Vermeer; Jeroen Bremer; Robert J Sietsma; Aileen Sandilands; Robyn P Hickerson; Marieke C Bolling; Anna M G Pasmooij; Henny H Lemmink; Morris A Swertz; Nine V A M Knoers; K Joeri van der Velde; Peter C van den Akker
Journal:  Int J Mol Sci       Date:  2021-11-12       Impact factor: 5.923

Review 7.  Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Authors:  Monica-Cristina Pânzaru; Lavinia Caba; Laura Florea; Elena Emanuela Braha; Eusebiu Vlad Gorduza
Journal:  Diagnostics (Basel)       Date:  2022-05-27
  7 in total

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