Literature DB >> 32965503

Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.

Naomi Tani1, Nanako Yamada, Tetsuya Okazaki, Takashi Horie, Hajime Nakano, Daisuke Sawamura, Osamu Yamamoto.   

Abstract

Entities:  

Keywords:  cholesterol clefts; electron microscopy; lamellar granules; transglutaminase 1; bathing suit ichthyosis

Mesh：

Substances：

Year:  2020        PMID： 32965503      PMCID： PMC9274925          DOI： 10.2340/00015555-3643

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


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  10 in total

Review 1.  Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Authors:  Vinzenz Oji; Gianluca Tadini; Masashi Akiyama; Claudine Blanchet Bardon; Christine Bodemer; Emmanuelle Bourrat; Philippe Coudiere; John J DiGiovanna; Peter Elias; Judith Fischer; Philip Fleckman; Michal Gina; John Harper; Takashi Hashimoto; Ingrid Hausser; Hans Christian Hennies; Daniel Hohl; Alain Hovnanian; Akemi Ishida-Yamamoto; Witold K Jacyk; Sancy Leachman; Irene Leigh; Juliette Mazereeuw-Hautier; Leonard Milstone; Fanny Morice-Picard; Amy S Paller; Gabriele Richard; Matthias Schmuth; Hiroshi Shimizu; Eli Sprecher; Maurice Van Steensel; Alain Taïeb; Jorge R Toro; Pierre Vabres; Anders Vahlquist; Mary Williams; Heiko Traupe
Journal:  J Am Acad Dermatol       Date:  2010-10       Impact factor: 11.527

2.  Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Authors:  Nareh V Marukian; Rong-Hua Hu; Brittany G Craiglow; Leonard M Milstone; Jing Zhou; Amy Theos; Hande Kaymakcalan; Deniz A Akkaya; Jouni J Uitto; Hassan Vahidnezhad; Leila Youssefian; Susan J Bayliss; Amy S Paller; Lynn M Boyden; Keith A Choate
Journal:  JAMA Dermatol       Date:  2017-06-01       Impact factor: 10.282

3.  Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions.

Authors:  Karin Aufenvenne; Vinzenz Oji; Tatjana Walker; Christoph Becker-Pauly; Hans Christian Hennies; Walter Stöcker; Heiko Traupe
Journal:  J Invest Dermatol       Date:  2009-02-12       Impact factor: 8.551

4.  ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.

Authors:  Kaori Sakai; Masashi Akiyama; Teruki Yanagi; James R McMillan; Tamio Suzuki; Katsuhiko Tsukamoto; Hideaki Sugiyama; Yuji Hatano; Michiko Hayashitani; Kenji Takamori; Keiko Nakashima; Hiroshi Shimizu
Journal:  J Invest Dermatol       Date:  2009-03-05       Impact factor: 8.551

5.  Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1.

Authors:  Nobuo Kuramoto; Toshihiro Takizawa; Takami Takizawa; Masato Matsuki; Hiroyuki Morioka; John M Robinson; Kiyofumi Yamanishi
Journal:  J Clin Invest       Date:  2002-01       Impact factor: 14.808

6.  Bathing suit ichthyosis with summer exacerbation: a temperature-sensitive case.

Authors:  M Yamamoto; Y Sakaguchi; M Itoh; N Nakagawa; A Fukunaga; K Hitomi; K Yamanishi
Journal:  Br J Dermatol       Date:  2011-12-06       Impact factor: 9.302

Review 7.  Bathing suit ichthyosis.

Authors:  Felicidade Trindade; Teresa Fiadeiro; Antonio Torrelo; Hans Christian Hennies; Ingrid Hausser; Heiko Traupe
Journal:  Eur J Dermatol       Date:  2010-06-03       Impact factor: 3.328

8.  Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks.

Authors:  Witold K Jacyk
Journal:  Eur J Dermatol       Date:  2005 Nov-Dec       Impact factor: 3.328

9.  Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.

Authors:  Vinzenz Oji; Juliette Mazereeuw Hautier; Bijan Ahvazi; Ingrid Hausser; Karin Aufenvenne; Tatjana Walker; Natalia Seller; Peter M Steijlen; Wolfgang Küster; Alain Hovnanian; Hans Christian Hennies; Heiko Traupe
Journal:  Hum Mol Genet       Date:  2006-09-12       Impact factor: 6.150

Review 10.  Autosomal recessive congenital ichthyosis.

Authors:  L Rodríguez-Pazos; M Ginarte; A Vega; J Toribio
Journal:  Actas Dermosifiliogr       Date:  2013-04-03
  10 in total
  1 in total

1.  Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.

Authors:  Fozia Fozia; Rubina Nazli; Sher Alam Khan; Ahmed Bari; Abdul Nasir; Riaz Ullah; Hafiz Majid Mahmood; Muhammad Sohaib; Abdulrahman Alobaid; Siddique A Ansari; Sulman Basit; Saadullah Khan
Journal:  Genes (Basel)       Date:  2021-03-05       Impact factor: 4.096
  1 in total

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