Dr. Franziska Ringpfeil |
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Thomas Jefferson University Jefferson Medical College Dermatology & Cutaneous Biology Assistant ProfessorAppointed: 2000 Thomas Jefferson University Thomas Jefferson University Hospital Dermatology and Cutaneous Biology |
Mailing AddressDepartment of Dermatology 233 S. 10th Street, Rm 409 Bluemle Life Science Building Philadelphia, Pennsylvania 19107-5587United States | Contact Information |
Qualifications
M.D..
Expertise and Research Interests
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
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
Future Research
Pseudoxanthoma elasticum provides an excellent example of age-related atherosclerotic disease at an accelerated rate, determined by genetic factors. Nowadays, a lot is known about environmental and metabolic factors for atherosclerotic disease, yet thereis little insight into its genetic predisposition.
Our goal is to fully elucidate the effects of pathogenic mutations as they relate to the cardiovascular symptoms encountered in PXE. Particularly, we aim at the correlation of debilitating cardiac manifestations with specific mutations in the ABCC6 gene or a specific domain in MRP6. We attempt to correlate our mutation data with specific cardiovascular symptoms, such as coronary artery disease, peripheral artery disease and arterial rupture. We thenintend to analyze the possible consequences of mutations on affected individuals and heterozygous carriers by in-vitro expression studies and/or knock-in mutations in our mouse model for PXE.
This would lead to improved genetic counseling and would provide the possibility of preventative intervention with reduction of cardiovascular morbidity and mortality.
Our goal is to fully elucidate the effects of pathogenic mutations as they relate to the cardiovascular symptoms encountered in PXE. Particularly, we aim at the correlation of debilitating cardiac manifestations with specific mutations in the ABCC6 gene or a specific domain in MRP6. We attempt to correlate our mutation data with specific cardiovascular symptoms, such as coronary artery disease, peripheral artery disease and arterial rupture. We thenintend to analyze the possible consequences of mutations on affected individuals and heterozygous carriers by in-vitro expression studies and/or knock-in mutations in our mouse model for PXE.
This would lead to improved genetic counseling and would provide the possibility of preventative intervention with reduction of cardiovascular morbidity and mortality.
Keywords
COS Keywords:
Dermatology, Medical Disciplines or Fields.Additional Terms:
Genetic Skin Diseases, Pseudoxanthoma Elasticum.Languages
(Reading, Writing, Speaking)
English: (Fluent, Fluent, Fluent)
German: (Fluent, Fluent, Fluent)
French: (Functional, Basic, Functional)
Memberships
American Academy of Dermatology
Dermatology Foundation
National Association for Pseudoxanthoma Elasticum
Philadelphia Dermatologic Society
Society for Investigative Dermatology
Society for Pediatric Dermatology
Honors and Awards
2002, AOA Membership,
AOA,
Thomas Jefferson University,
Elected for Faculty Award
2001, Young Investigators in Dermatology Award,
American Academy of Dermatology,
Thomas Jefferson University,
Molecular Mechanisms in Pseudoxanthoma Elasticum
Funding Received
- Dermatology Foundation: Career Development Award, 55.000,-, Jul 1, 2001 to Jun 30, 2004.
Publications
- 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, April 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, December 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, July 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, September 2001
- Ringpfeil F, Pulkkinen L, Uitto J, Molecular genetics of pseudoxanthoma elasticum, Experimental Dermatology, 10(4), 221-8, August 2001
- Davidson KA, Ringpfeil F, Lee JB, Ibuprofen-induced bullous leukocytoclastic vasculitis, Cutis, 67(4), 303-7, April 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, March 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, February 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
Profile Details
Last Updated: 3/14/2006
COS Expertise ID #964502
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