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- 129S1/SvImJ mouse; ABCC6 gene; animal cell; animal experiment; animal model; animal tissue; article; C3H/He mouse; controlled study; DBA 2 mouse; diet; gene; gene mutation; genetic variability; histopathology; inbred mouse strain; KK/HlJ mouse; liver; magnesium blood level; mineralization; mouse; nonhuman; phosphate blood level; protein expression; pseudoxanthoma elasticum; single nucleotide polymorphism (1)
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- 3' untranslated region; animal experiment; animal model; animal tissue; artery calcification; Article; asj 2J mouse; asj mouse; autosomal recessive disorder; Bagg albino mouse; controlled study; dietary intake; Enpp1 gene; female; gait disorder; gene; generalized arterial calcification of infancy; genetic complementation; genome size; histopathology; indel mutation; intron; joint stiffness; large scale production; micro-computed tomography; missense mutation; molecular pathology; mouse; mouse model; mutant mouse strain; mutational analysis; nonhuman; phenotype; polymerase chain reaction; protein blood level; strain difference; vibrissa (1)
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Articles 1 - 8 of 8
Full-Text Articles in Medicine and Health Sciences
Spontaneous Asj-2j Mutant Mouse As A Model For Generalized Arterial Calcification Of Infancy: A Large Deletion/Insertion Mutation In The Enpp1 Gene., Qiaoli Li, C Herbert Pratt, Louise A Dionne, Heather Fairfield, Son Yong Karst, John P Sundberg, Jouni Uitto, Yin Tintut
Spontaneous Asj-2j Mutant Mouse As A Model For Generalized Arterial Calcification Of Infancy: A Large Deletion/Insertion Mutation In The Enpp1 Gene., Qiaoli Li, C Herbert Pratt, Louise A Dionne, Heather Fairfield, Son Yong Karst, John P Sundberg, Jouni Uitto, Yin Tintut
Department of Dermatology and Cutaneous Biology Faculty Papers
Generalized arterial calcification of infancy (GACI), an autosomal recessive disorder caused by mutations in the ENPP1 gene, manifests with extensive mineralization of the cardiovascular system. The affected individuals in most cases die within the first year of life, and there is currently no effective treatment for this disorder. In this study, we characterized a spontaneous mutant mouse, asj-2J, as a model for GACI. These mice were identified as part of a phenotypic deviant search in a large-scale production colony of BALB/cJ mice at The Jackson Laboratory. They demonstrated a characteristic gait due to stiffening of the joints, with phenotypic similarity …
Jewish Dermatologists In Nazi Germany., Walter H.C. Burgdorf, Lawrence Charles Parish
Jewish Dermatologists In Nazi Germany., Walter H.C. Burgdorf, Lawrence Charles Parish
Department of Dermatology and Cutaneous Biology Faculty Papers
With the development of medical specialties beginning in the 1860’s, physicians could devote their time to the study of specific organ systems or surgical approaches. Although Jews had been given full rights in the new Germany by 1871, prejudice and other restrictions often precluded hospital and university appointments. Major specialities like internal medicine and surgery were almost closed to Jews, as were obstetrics and gynecology. Dermatology with its heavy emphasis on sexually transmitted diseases evolved into a suitable domain for Jewish physicians almost by default. Even those Jews who converted to Christianity were not spared from discrimination. Paul Gerson Unna …
Steatocystoma Multiplex: Those Little Tumours., Ellen H. De Moll, W. Clark Lambert, Lawrence Charles Parish
Steatocystoma Multiplex: Those Little Tumours., Ellen H. De Moll, W. Clark Lambert, Lawrence Charles Parish
Department of Dermatology and Cutaneous Biology Faculty Papers
No abstract provided.
Tumour-Stroma Crosstalk In The Development Of Squamous Cell Carcinoma., Yok Zuan Lim, Andrew P South
Tumour-Stroma Crosstalk In The Development Of Squamous Cell Carcinoma., Yok Zuan Lim, Andrew P South
Department of Dermatology and Cutaneous Biology Faculty Papers
Squamous cell carcinoma (SCC) represents one of the most frequently diagnosed tumours and contributes significant mortality worldwide. Recent deep sequencing of cancer genomes has identified common mutations in SCC arising across different tissues highlighting perturbation of squamous differentiation as a key event. At the same time significant data have been accumulating to show that common tumour-stroma interactions capable of driving disease progression are also evident when comparing SCC arising in different tissues. We and others have shown altered matrix composition surrounding SCC can promote tumour development. This review focuses on some of the emerging data with particular emphasis on SCC …
Mouse Models For Pseudoxanthoma Elasticum: Genetic And Dietary Modulation Of The Ectopic Mineralization Phenotypes., Qiaoli Li, Haitao Guo, David W Chou, Annerose Berndt, John P Sundberg, Jouni Uitto
Mouse Models For Pseudoxanthoma Elasticum: Genetic And Dietary Modulation Of The Ectopic Mineralization Phenotypes., Qiaoli Li, Haitao Guo, David W Chou, Annerose Berndt, John P Sundberg, Jouni Uitto
Department of Dermatology and Cutaneous Biology Faculty Papers
Pseudoxanthoma elasticum (PXE), a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene. Null mice (Abcc6(-/-) ) recapitulate the genetic, histopathologic and ultrastructural features of PXE, and they demonstrate early and progressive mineralization of vibrissae dermal sheath, which serves as a biomarker of the overall mineralization process. Recently, as part of a mouse aging study at The Jackson Laboratory, 31 inbred mouse strains were necropsied, and two of them, KK/HlJ and 129S1/SvImJ, were noted to have vibrissae dermal mineralization similar to Abcc6(-/-) mice. These two strains were shown to harbor a single nucleotide polymorphism (rs32756904) in the …
Human Adipose-Derived Stem Cell Transplantation As A Potential Therapy For Collagen Vi-Related Congenital Muscular Dystrophy., Vitali Alexeev, Machiko Arita, Adele Donahue, Paolo Bonaldo, Daniel A. Monti, Olga Igoucheva
Human Adipose-Derived Stem Cell Transplantation As A Potential Therapy For Collagen Vi-Related Congenital Muscular Dystrophy., Vitali Alexeev, Machiko Arita, Adele Donahue, Paolo Bonaldo, Daniel A. Monti, Olga Igoucheva
Department of Dermatology and Cutaneous Biology Faculty Papers
INTRODUCTION: Congenital muscular dystrophies (CMD) are a clinically and genetically heterogeneous group of neuromuscular disorders characterized by muscle weakness within the first two years of life. Collagen VI-related muscle disorders have recently emerged as one of the most common types of CMD. COL6 CMD is caused by deficiency and/or dysfunction of extracellular matrix (ECM) protein collagen VI. Currently, there is no specific treatment for this disabling and life-threatening disease. The primary cellular targets for collagen VI CMD therapy are fibroblasts in muscle, tendon and skin, as opposed to muscle cells for other types of muscular dystrophies. However, recent advances in …
Language Barriers To Informed Consent For Dermatologic Interventions., Jordan Wang, Matthew Keller
Language Barriers To Informed Consent For Dermatologic Interventions., Jordan Wang, Matthew Keller
Department of Dermatology and Cutaneous Biology Faculty Papers
CASE SCENARIO
A 39-year-old Spanish-speaking woman with limited English-language proficiency presents with her 13-year-old son to your private dermatology practice. Through her son, you learn the patient is worried about a mole that has significantly grown in size over the past 3 months. After examination, you recommend the nevus be biopsied to better evaluate it. However, you are barely able to communicate with the patient, and you suspect that her son is not interpreting everything you say based on his especially brief communications with her. To proceed with the biopsy, you must first obtain informed consent.
As the dermatologist, you …
Images In Clinical Medicine. Rumpel-Leede Sign., Krystle Wang, Jason Lee
Images In Clinical Medicine. Rumpel-Leede Sign., Krystle Wang, Jason Lee
Department of Dermatology and Cutaneous Biology Faculty Papers
No abstract provided.