Christen-LAB

1) Participation in the identification of the molecular defect of pseudoxanthoma elasticum (PXE) and correlated haplotype and phenotype of PXE allowing to confirm actual diagnostic criteria.

• Christen-Zaech S, Huber M, Struk B, Lindpaintner K, Munier F, Panizzon R, Hohl D. Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data. Br J Dermatol. 2006;155(1):89-93.
• Miksch S, Lumsden A L, Guenther UP, Foernzler D , Christen-Zäch S, Daugherty C, Ramesar R, Lebwohl M, Thierfelder L, Hohl D, Neldner KH, Lindpaintner K, Richards RI, and Struk B. Molecular Genetics of Pseudoxanthoma Elasticum : Types and Frequencies of Mutation in ABCC6. Hum Mutat 2005;26(3):235-48.
• Cai L, Lumsden A, Guenther UP, Neldner SA, Zaech S, Knoblauch H, Ramesar R, Hohl D Callen DF, Neldner KH, Lindpaintner K, Richards RI, Struk B. A novel Q378X mutation exists in the transmembrane transporter protein ABCC& and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum. J Mol Med 2001;79(9):536-46.
• Struk B, Cai L, Zaech S, Ji W, Chung J, Lumsden A, Stumm M, Huber M, Schaen L, Kim CA, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Munier F, Ramesar R, Hohl D, Richards R, Neldner KH, Lindpaintner K. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med 2000;78(5):282-6.
• Cai L, Struk B, Adams MD, Ji W, Haaf T, Kang HL, Dho SH, Xu X, Ringpfeil F, Nancarrow J, Zaech S, Schaen L, Stumm Mm, Niu T, Chung J, Lunze K, Verrecchia B, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Lebwohl M, Uitto J, Richards R, Hohl D, Ramesar R. A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. J Mol Med 2000;78(1):36-46.

2) Analysis of clinical, immunological and genetic data in two large cohorts of patients affected with juvenile dermatomyositis and juvenile morphea in order to find potential predictors of disease course that could help guide treatment.

• Christen-Zaech S, Seshari R, Sundberg J, Paller AS, Pachman LM. Juvenile dermatomyositis: nailfold capillaroscopy changes, baseline predictors and disease course over 36 months. Eur. J. Pediat. Dermatol. 2008;18:05-8.
• Christen-Zaech S, Hakim MD, Afsar S, Paller AS. Pediatric Morphea (Localized Scleroderma): Review of 136 Patients. J Am Acad Dermatol. 2008; 59(3):385-96
• Christen-Zaech S, Seshari R, Sundberg J, Paller AS, Pachman LM. Persistent association of nailfold capillaroscopy changes and skin involvement over 36 months with duration of untreated disease in patients with juvenile dermatomyositis. Arthritis Rheum. 2008; 58(2):571-576.
• Christen-Zaech S, Seshari R, Sundberg J, Abbott K, Paller AS, Pachman LM. Association of nailfold capillaroscopy and disease activity score over time in previously untreated juvenile dermatomyositis patients. Arthritis Rheum 2005;52:8723 (Supplement).

3) Analysis of genotype-phenotype correlations of xeroderma pigmentosum type A mutations.

• Christen-Zaech S, Imoto K, Khan, SG, Oh KS, Tamura D, DiGiovanna JJ, Boyle J, Patronas NJ, Schiffmann R, Kraemer KH, Paller AS. Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew. Arch Dermatol. 2009; 145: 1285-1291.

4) Current translational research: Atopic Dermatitis Onset Study (ADOS). A prospective cohort study on the development of atopic dermatitis.

• Lang C, Kypriotou M, Christen-Zaech S. Revue sur la pathogenèse de la dermatite atopique Rev Med Suisse 2010;6:860-865.

CURRENT LAB MEMBERS

Alexandre Johannsen, PhD Biologiste
Caroline Lang, doctoral student

CURRENT GRANTS

Atopic dermatitis onset study
Swiss National Science Foundation, 10/2010 – 12/2013
CK-Care Kühne Foundation, 02/2012 – 02/2014