Literature DB >> 16417242

Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease.

Richard Kellermayer, Réka Szigeti, Kim M Keeling, Tibor Bedekovics, David M Bedwell.   

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Year:  2006        PMID： 16417242     DOI： 10.1038/sj.jid.5700031

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


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  24 in total

1.  Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.

Authors:  Jon Cogan; Jacqueline Weinstein; Xinyi Wang; Yingping Hou; Sabrina Martin; Andrew P South; David T Woodley; Mei Chen
Journal:  Mol Ther       Date:  2014-07-23       Impact factor: 11.454

2.  Lithium suppresses epidermal SERCA2 and PMR1 levels in the rat.

Authors:  Norbert Süle; Alexandra Tészás; Endre Kálmán; Réka Szigeti; Attila Miseta; Richard Kellermayer
Journal:  Pathol Oncol Res       Date:  2006-12-25       Impact factor: 3.201

Review 3.  Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction in Chronic Bronchitis and Other Diseases of Mucus Clearance.

Authors:  S Vamsee Raju; George M Solomon; Mark T Dransfield; Steven M Rowe
Journal:  Clin Chest Med       Date:  2015-12-24       Impact factor: 2.878

4.  Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

Authors:  Patricia K Dranchak; Erminia Di Pietro; Ann Snowden; Nathan Oesch; Nancy E Braverman; Steven J Steinberg; Joseph G Hacia
Journal:  J Cell Biochem       Date:  2011-05       Impact factor: 4.429

Review 5.  Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases.

Authors:  Kim M Keeling; David M Bedwell
Journal:  Wiley Interdiscip Rev RNA       Date:  2011-07-06       Impact factor: 9.957

Review 6.  Nonsense suppression therapies in human genetic diseases.

Authors:  Patrícia Martins-Dias; Luísa Romão
Journal:  Cell Mol Life Sci       Date:  2021-03-22       Impact factor: 9.261

Review 7.  Therapeutics based on stop codon readthrough.

Authors:  Kim M Keeling; Xiaojiao Xue; Gwen Gunn; David M Bedwell
Journal:  Annu Rev Genomics Hum Genet       Date:  2014-04-18       Impact factor: 8.929

8.  Two Novel Variants and One Previously Reported Variant in the ATP2C1 Gene in Chinese Hailey-Hailey Disease Patients.

Authors:  Zhen Xiao; Zhi-Gang Liu; Xiao-Liang Ou Yang; Si-Min Yu; Jian-Rong Zeng; Chun-Ming Li
Journal:  Mol Syndromol       Date:  2021-05-04

9.  Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

Authors:  Christiane Kuschal; John J DiGiovanna; Sikandar G Khan; Richard A Gatti; Kenneth H Kraemer
Journal:  Proc Natl Acad Sci U S A       Date:  2013-11-11       Impact factor: 11.205

Review 10.  Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.

Authors:  Jing-Qiong Kang; Robert L Macdonald
Journal:  Trends Mol Med       Date:  2009-08-31       Impact factor: 11.951
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