Thomas Jefferson University - Franziska Ringpfeil
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Franziska Ringpfeil
Dermatology and Cutaneous Biology
Thomas Jefferson University
Jefferson Medical College
Department of Dermatology & Cutaneous Biology
Assistant Professor Appointed: 2000
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Mailing Address
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233 S. 10th Street, Rm 409
Philadelphia, Pennsylvania 19107
United States
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Expertise and Research Interests
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My research interest revolves around heritable disorders of connective tissue. My current focus includes two of these diseases.
Pseudoxanthoma elasticum is an autosomal recessive disease that involves the connective tissue of the skin, the circulatory system and the retina. We and others have identified the causative gene, ABCC6, a member of the multidrug resistance associated family of proteins. The encoded ABC transporter is expressed in liver and kidneys but its function is unknown.
In addition to identifying the underlying gene, we have fully elucidated its two pseudogenes, have developed strategies for accurate mutation detection for carriers and prenatal diagnosis,have clarified the mode of inheritance and have used our large patient and mutation database for first genotype-phenotype correlations.
Cutis laxa is a very rare disease that affects the elastic fiber network in the skin, lungs and heart. It is present at birth and can be inherited in an autosomal dominant fashion through mutations in the tail end of the Elastin gene, while mutations in the Fibulin 5 gene can be associated with an autosomal recessive and dominant mode of inheritance. Current research involves detection of other possible causes of this multigenic disorder
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Keywords
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Genetic Skin Diseases; Medical Disciplines; Medical Fields; Pseudoxanthoma Elasticum
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Publications
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- Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. American Journal of Human Genetics. 72(4): 998-1004, Apr 2003
- Uitto J, Pulkkinen L, Ringpfeil F. Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum. The Journal of Investigative Dermatology. Symposium Proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research. 7(1): 6-16, Dec 2002
- Pulkkinen L, Ringpfeil F, Uitto J. Progress in heritable skin diseases: molecular bases and clinical implications. Journal of the American Academy of Dermatology. 47(1): 91-104, Jul 2002
- Pulkkinen L, Nakano A, Ringpfeil F, Uitto J. Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. Human Genetics. 109(3): 356-65, Sep 2001
- Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxanthoma elasticum. Experimental Dermatology. 10(4): 221-8, Aug 2001
- Davidson KA, Ringpfeil F, Lee JB. Ibuprofen-induced bullous leukocytoclastic vasculitis. Cutis. 67(4): 303-7, Apr 2001
- Ringpfeil F, Nakano A, Uitto J, Pulkkinen L. Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. American Journal of Human Genetics. 68(3): 642-52, Mar 2001
- Ringpfeil F, Raus A, DiGiovanna JJ, Korge B, Harth W, Mazzanti C, Uitto J, Bale SJ, Richard G. Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation. Experimental Dermatology. 10(1): 19-27, Feb 2001
- Uitto J, Pulkkinen L, Ringpfeil F. Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?. 7(1): 13-7, Jan 2001
- Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proceedings of the National Academy of Sciences (USA). 97(11): 6001-6, 2000
- Cai L, Struk B, Adams MD, Ji W, Haaf T, Kang HL, Dho SH, Xu X, Ringpfeil F, Nancarrow J, Zach S, Schaen L, Stumm M, 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. Journal of Molecular Medicine. 78(1): 36-46, 2000
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Individual Expertise profile of
Franziska Ringpfeil, Copyright © Franziska Ringpfeil.
Last Updated
: Friday, April 9, 2004 10:38:22 AM
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