Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Franziska Ringpfeil"'
Autor:
Vitali Alexeev, Leonie Huitema, Taylor Phillips, Rodrigo Cepeda, Diego de los Cobos, Regina Isabella Matus Perez, Mauricio Salas‐Garza, Oscar R. Fajardo‐Ramirez, Franziska Ringpfeil, Jouni Uitto, Julio Cesar Salas‐Alanis, Olga Igoucheva
Publikováno v:
Experimental dermatology. 31(9)
Recessive dystrophic epidermolysis bullosa (RDEB) patients develop poorly healing skin wounds that are frequently colonized with microbiota. Because T cells play an important role in clearing such pathogens, we aimed to define the status of adaptive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d40fc7712746ce8e3d2a631720758231
https://pubmed.ncbi.nlm.nih.gov/35620886
https://pubmed.ncbi.nlm.nih.gov/35620886
Autor:
Jouni Uitto, Taylor Phillips, Julio C. Salas-Alanis, Diego de los Cobos, Leonie Huitema, Vitali Alexeev, Olga Igoucheva, Rodrigo Cepeda, Franziska Ringpfeil, Bahar Dasgeb, Mauricio Salas Garza, Regina Isabella Matus Perez
Publikováno v:
Journal of dermatological science. 100(3)
Background Poorly healing wounds are one of the major complications in patients suffering from recessive dystrophic epidermolysis bullosa (RDEB). At present, there are no effective means to analyze changes in cellular and molecular networks occurring
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f6a9d9857cbacf61ec125c4f33c9881
https://pubmed.ncbi.nlm.nih.gov/33143962
https://pubmed.ncbi.nlm.nih.gov/33143962
Publikováno v:
Clinical and Translational Science. 3:295-298
Pseudoxanthoma elasticum (PXE), an autosomal recessive multisystem disorder, is caused by mutations in the ABCC6 gene, and approximately 300 distinct mutations representing >1,000 mutant alleles have been disclosed thus far. Few population‐based st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::825f18a1ff0a19d477b694d413299b0f
https://doi.org/10.1111/j.1752-8062.2010.00243.x
https://doi.org/10.1111/j.1752-8062.2010.00243.x
Publikováno v:
Pediatric Dermatology. 25:355-358
We present five cases of an unusual phenotype of nevus sebaceus characterized by large, pink, exophytic nodules. In all cases, no evidence of extracutaneous disease or associated syndromes was observed. We review the clinical presentation of nevus se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0390b535576da4d0515825df74601d79
https://doi.org/10.1111/j.1525-1470.2008.00682.x
https://doi.org/10.1111/j.1525-1470.2008.00682.x
Autor:
Margarita Larralde, Lauren Fuchsel, Jouni Uitto, Heidi Kozic, Mark Lebwohl, Kelly Mcguigan, Franziska Ringpfeil
Publikováno v:
Journal of Investigative Dermatology. 126(4):782-786
Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene. Historically, PXE has been suggested to be inherited either in an autosomal dominant or autosomal recessive manner. To determine the exact mode of inheritance of PXE and to addr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a96c711b2231521e154429b21d2257b
Autor:
Franziska Ringpfeil
Publikováno v:
Clinics in Dermatology. 23:41-46
There has been progress made in the understanding of 3 Mendelian disorders: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis cutis and mucosae. While they are primary connective tissue diseases, their names imply a connection to the skin,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0851ad35956b19122b1177469146db6
https://doi.org/10.1016/j.clindermatol.2004.09.006
https://doi.org/10.1016/j.clindermatol.2004.09.006
Autor:
Rupert Timpl, Mon-Li Chu, Jouni Uitto, Yaqun Zou, Franziska Ringpfeil, Takako Sasaki, Dessislava Markova, Günter Kostka
Publikováno v:
The American Journal of Human Genetics. 72:998-1004
Inherited cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement, resulting from paucity of elastic fibers. Elsewhere, frameshift mutations in the elastin gene have been reported in three famili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4043b95d2ad783376803477852faf7c
https://doi.org/10.1086/373940
https://doi.org/10.1086/373940
Publikováno v:
Journal of the American Academy of Dermatology. 47:91-104
THE SPECTRUM OF PHENOTYPIC VARIABILITY IN HERITABLE SKIN DISEASES Genodermatoses comprise a group of phenotypically diverse conditions with variable degrees of skin involvement.1 In some conditions, there is only a minor, often cosmetic, involvement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7686ed0b9358de71e7b6c5716dcf23c8
https://doi.org/10.1067/mjd.2002.120601
https://doi.org/10.1067/mjd.2002.120601
Publikováno v:
Experimental Dermatology. 10:221-228
Pseudoxanthoma elasticum (PXE), a systemic heritable connective tissue disorder, is characterized by progressive calcification of elastic structures in the skin, the eyes and the cardiovascular system, with considerable intra- and interfamilial pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::243a7b4651899c5de7f8184beea1edc3
https://doi.org/10.1034/j.1600-0625.2001.100401.x
https://doi.org/10.1034/j.1600-0625.2001.100401.x
Publikováno v:
The American Journal of Human Genetics. 68:642-652
Pseudoxanthoma elasticum (PXE) is a systemic heritable disorder affecting the elastic structures in the skin, eyes, and cardiovascular system, with considerable morbidity and mortality. Recently, mutations in the ABCC6 gene (also referred to as "MRP6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d4b56bc8263a58a55a42f8b527ee016
https://doi.org/10.1086/318807
https://doi.org/10.1086/318807