Has C - Search Results

1

Kidney-Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa.

Trefzer L, Schwieger-Briel A, Nyström A, Conradt G, Pohl M, Miernik A, Has C. Trefzer L, et al. Among authors: has c. JAMA Dermatol. 2022 Sep 1;158(9):1057-1062. doi: 10.1001/jamadermatol.2022.2885. JAMA Dermatol. 2022. PMID: 35921091 Free PMC article.

2

Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.

Väisänen L, Has C, Franzke C, Hurskainen T, Tuomi ML, Bruckner-Tuderman L, Tasanen K. Väisänen L, et al. Among authors: has c. J Invest Dermatol. 2005 Dec;125(6):1112-8. doi: 10.1111/j.0022-202X.2005.23943.x. J Invest Dermatol. 2005. PMID: 16354180 Free article.

3

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C. Kern JS, et al. Among authors: has c. J Invest Dermatol. 2006 May;126(5):1006-12. doi: 10.1038/sj.jid.5700219. J Invest Dermatol. 2006. PMID: 16484981 Free article.

4

Network epidermolysis bullosa: molecular pathomechanisms and novel therapeutic approaches.

Volz A, Has C, Schumann H, Bruckner-Tuderman L. Volz A, et al. Among authors: has c. J Dtsch Dermatol Ges. 2007 Apr;5(4):274-9. doi: 10.1111/j.1610-0387.2006.06181.x. J Dtsch Dermatol Ges. 2007. PMID: 17376090 Review. English, German.

5

Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations.

Schumann H, Has C, Kohlhase J, Bruckner-Tuderman L. Schumann H, et al. Among authors: has c. Br J Dermatol. 2008 Aug;159(2):464-9. doi: 10.1111/j.1365-2133.2008.08695.x. Epub 2008 Jun 28. Br J Dermatol. 2008. PMID: 18565177

6

Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.

Kern JS, Grüninger G, Imsak R, Müller ML, Schumann H, Kiritsi D, Emmert S, Borozdin W, Kohlhase J, Bruckner-Tuderman L, Has C. Kern JS, et al. Among authors: has c. Br J Dermatol. 2009 Nov;161(5):1089-97. doi: 10.1111/j.1365-2133.2009.09333.x. Epub 2009 Jun 5. Br J Dermatol. 2009. PMID: 19681861

7

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

Arin MJ, Grimberg G, Schumann H, De Almeida H Jr, Chang YR, Tadini G, Kohlhase J, Krieg T, Bruckner-Tuderman L, Has C. Arin MJ, et al. Among authors: has c. Br J Dermatol. 2010 Jun;162(6):1365-9. doi: 10.1111/j.1365-2133.2010.09657.x. Epub 2010 Feb 25. Br J Dermatol. 2010. PMID: 20199538

8

[Epidermolysis bullosa : Diagnosis and therapy].

Has C, Bruckner-Tuderman L. Has C, et al. Hautarzt. 2011 Feb;62(2):82-90. doi: 10.1007/s00105-010-2049-x. Hautarzt. 2011. PMID: 21271234 German.

9

Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.

Leverkus M, Ambach A, Hoefeld-Fegeler M, Kohlhase J, Schmidt E, Schumann H, Has C, Gollnick H. Leverkus M, et al. Among authors: has c. Br J Dermatol. 2011 May;164(5):1104-6. doi: 10.1111/j.1365-2133.2011.10230.x. Br J Dermatol. 2011. PMID: 21275939

10

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.

Pigors M, Kiritsi D, Krümpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C. Pigors M, et al. Among authors: has c. Hum Mol Genet. 2011 May 1;20(9):1811-9. doi: 10.1093/hmg/ddr064. Epub 2011 Feb 14. Hum Mol Genet. 2011. PMID: 21320868

As a constituent of both types of intercellular junctions, plakoglobin has multiple interaction partners and mutations in its gene [junction plakoglobin (JUP)] have been associated with mild cutaneous disease, palmoplantar keratoderma and arrhythmogenic heart disease. Here …

As a constituent of both types of intercellular junctions, plakoglobin has multiple interaction partners and mutations in its gene [j …

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