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- Ichthyosis vulgaris; Filaggrin gene; 2282del4 mutation; PCR amplification. (1)
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Articles 1 - 9 of 9
Full-Text Articles in Dermatology
Abca12-Mediated Lipid Transport And Snap29-Dependent Trafficking Of Lamellar Granules Are Crucial For Epidermal Morphogenesis In A Zebrafish Model Of Ichthyosis., Qiaoli Li, Michael Frank, Masashi Akiyama, Shiu-Ying Ho, Hiroshi Shimizu, Christine Thisse, Bernard Thisse, Eli Sprecher, Jouni Uitto
Abca12-Mediated Lipid Transport And Snap29-Dependent Trafficking Of Lamellar Granules Are Crucial For Epidermal Morphogenesis In A Zebrafish Model Of Ichthyosis., Qiaoli Li, Michael Frank, Masashi Akiyama, Shiu-Ying Ho, Hiroshi Shimizu, Christine Thisse, Bernard Thisse, Eli Sprecher, Jouni Uitto
Department of Dermatology and Cutaneous Biology Faculty Papers
Zebrafish (Danio rerio) can serve as a model system to study heritable skin diseases. The skin is rapidly developed during the first 5-6 days of embryonic growth, accompanied by expression of skin-specific genes. Transmission electron microscopy (TEM) of wild-type zebrafish at day 5 reveals a two-cell-layer epidermis separated from the underlying collagenous stroma by a basement membrane with fully developed hemidesmosomes. Scanning electron microscopy (SEM) reveals an ordered surface contour of keratinocytes with discrete microridges. To gain insight into epidermal morphogenesis, we have employed morpholino-mediated knockdown of the abca12 and snap29 genes, which are crucial for secretion of lipids and …
Mechanisms Of Resistance To Raf Inhibitors In Melanoma., A E Aplin, Fred M Kaplan, Yongping Shao
Mechanisms Of Resistance To Raf Inhibitors In Melanoma., A E Aplin, Fred M Kaplan, Yongping Shao
Department of Cancer Biology Faculty Papers
The recent RAF inhibitor trial with PLX4032/RG7204 in late-stage mutant B-RAF melanoma patients has been lauded as a success story for personalized cancer therapy since short-term clinical responses were observed in the majority of patients. However, initial responses were followed by subsequent tumor re-growth, and a subset of patients showed intrinsic resistance. Bi-directional translational efforts are now essential to determine the mechanisms underlying acquired/secondary and intrinsic resistance to RAF inhibitors.
Detection Of Filaggrin Gene Mutation (2282del4) In Pakistani Ichthyosis Vulgaris Families., Naghma Naz, Azam J. Samdani
Detection Of Filaggrin Gene Mutation (2282del4) In Pakistani Ichthyosis Vulgaris Families., Naghma Naz, Azam J. Samdani
Department of Medicine
The aim of this study was to detect an 811 bp filaggrin (FLG) gene fragment known to carry a mutation 2282del4 which causes ichthyosis vulgaris. Seven clinically examined ichthyosis vulgaris families were included in this study. An 811 bp FLG gene fragment was targeted in the genomic DNA of all the members of the seven families by PCR amplification using known primers RPT1P7 and RPT2P1. Successful amplification of an 811 bp FLG gene fragment in all the families suggested the possible role of the 2282del4 mutation in causing ichthyosis vulgaris in Pakistani population.
Expedient Treatment Of A Collodion Baby, Michael Chung, Jaime Pittenger, Stuart Tobin, Andrew Chung, Nirmala Desai
Expedient Treatment Of A Collodion Baby, Michael Chung, Jaime Pittenger, Stuart Tobin, Andrew Chung, Nirmala Desai
Pediatrics Faculty Publications
Only ~270 cases of collodion babies have been reported in the literature since 1892. As the name suggests, the term "collodion baby" refers to a phenotype that can be characterized by a yellow, shiny, tight parchment-like membrane stretched over the skin. Although the collodion membrane is only an evanescent condition of the newborn, neonatal complications can occur in 45% of all collodion babies, leading to a mortality rate of ~11% in the first few weeks of life. Most children born as collodion babies will spontaneously desquamate within 2 weeks, but may be as long as 3 months. Eventually, these children …
Nonsurgical Treatment Options For Basal Cell Carcinoma, Mary H. Lien, Vernon K. Sondak
Nonsurgical Treatment Options For Basal Cell Carcinoma, Mary H. Lien, Vernon K. Sondak
Dermatology & Cutaneous Surgery Faculty Publications
Basal cell carcinoma (BCC) remains the most common form of nonmelanoma skin cancer (NMSC) in Caucasians, with perhaps as many as 2 million new cases expected to occur in the United States in 2010. Many treatment options, including surgical interventions and nonsurgical alternatives, have been utilized to treat BCC. In this paper, two non-surgical options, imiquimod therapy and photodynamic therapy (PDT), will be discussed. Both modalities have demonstrated acceptable disease control rates, cosmetically superior outcomes, and short-term cost-effectiveness. Further studies evaluating long-term cure rates and long-term cost effectiveness of imiquimod therapy and PDT are needed.
Progressive Symmetric Erythrokeratoderma, Sevasti Margetas Do, Stephen Purcell Do
Progressive Symmetric Erythrokeratoderma, Sevasti Margetas Do, Stephen Purcell Do
Department of Medicine
No abstract provided.
Atypical Lymphocytic Lobular Panniculitis: A Distinct Eentity In The Spectrum Of Cutaneous Lymphoid Dyscrasia, Lusia S. Yi Do, Ms, Nicole Bright Do, Stephen Purcell Do
Atypical Lymphocytic Lobular Panniculitis: A Distinct Eentity In The Spectrum Of Cutaneous Lymphoid Dyscrasia, Lusia S. Yi Do, Ms, Nicole Bright Do, Stephen Purcell Do
Department of Medicine
No abstract provided.
Oral Fixed Drug Eruption Secondary To Isoniazid, Tanya Ermolovich Do, Tatyana Groysman Do
Oral Fixed Drug Eruption Secondary To Isoniazid, Tanya Ermolovich Do, Tatyana Groysman Do
Department of Medicine
No abstract provided.
Plexiform Neurofibroma Associated With Nf1, Stephen M. Purcell Do, Tatyana Groysman Do
Plexiform Neurofibroma Associated With Nf1, Stephen M. Purcell Do, Tatyana Groysman Do
Department of Medicine
No abstract provided.