Literature DB >> 11530338

Disease model: heritable skin blistering.

M J Arin1, D R Roop.   

Abstract

Hereditary skin blistering disorders comprise a group of genodermatoses whose common primary feature is the formation of blisters following minor trauma. Examples of such conditions include epidermolysis bullosa and several bullous forms of ichthyosis. Distinct mutations in various genes encoding intra- and extra-cellular structural components of the skin reflect the clinical heterogeneity of these disorders. Several animal models are currently used to study the role of these molecules in the disease process. Some of these models will find their place in evaluating new therapeutic strategies for this devastating group of diseases.

Entities:  

Mesh:

Year:  2001        PMID: 11530338     DOI: 10.1016/s1471-4914(01)02095-0

Source DB:  PubMed          Journal:  Trends Mol Med        ISSN: 1471-4914            Impact factor:   11.951


  7 in total

Review 1.  Diseases of epidermal keratins and their linker proteins.

Authors:  Jouni Uitto; Gabriele Richard; John A McGrath
Journal:  Exp Cell Res       Date:  2007-04-24       Impact factor: 3.905

2.  Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.

Authors:  Olga Igoucheva; Aislinn Kelly; Jouni Uitto; Vitali Alexeev
Journal:  J Invest Dermatol       Date:  2007-12-13       Impact factor: 8.551

3.  Skin fragility and impaired desmosomal adhesion in mice lacking all keratins.

Authors:  Janina Bär; Vinod Kumar; Wera Roth; Nicole Schwarz; Miriam Richter; Rudolf E Leube; Thomas M Magin
Journal:  J Invest Dermatol       Date:  2013-10-11       Impact factor: 8.551

Review 4.  Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise.

Authors:  Jean Christopher Chamcheu; Gary S Wood; Imtiaz A Siddiqui; Deeba N Syed; Vaqar M Adhami; Joyce M Teng; Hasan Mukhtar
Journal:  Exp Dermatol       Date:  2012-07       Impact factor: 3.960

5.  Overcoming functional redundancy to elicit pachyonychia congenita-like nail lesions in transgenic mice.

Authors:  Pauline Wong; Renee Domergue; Pierre A Coulombe
Journal:  Mol Cell Biol       Date:  2005-01       Impact factor: 4.272

6.  Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report.

Authors:  Suman Kalyan Paine; Subrata Das; Chandrika Bhattacharyya; Nidhan Kumar Biswas; Raghavendra Rao; Abhishek De; Analabha Basu
Journal:  Mol Genet Genomics       Date:  2022-08-23       Impact factor: 2.980

7.  Genetics of dark skin in mice.

Authors:  Karen R Fitch; Kelly A McGowan; Catherine D van Raamsdonk; Helmut Fuchs; Daekee Lee; Anne Puech; Yann Hérault; David W Threadgill; Martin Hrabé de Angelis; Gregory S Barsh
Journal:  Genes Dev       Date:  2003-01-15       Impact factor: 11.361

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.