Search Results - "Leachman, Sancy A"
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Lymphatic Vessels, Inflammation, and Immunity in Skin Cancer
Published in Cancer discovery (01-01-2016)“…Skin is a highly ordered immune organ that coordinates rapid responses to external insult while maintaining self-tolerance. In healthy tissue, lymphatic…”
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Epistatic and Combinatorial Effects of Pigmentary Gene Mutations in the Domestic Pigeon
Published in Current biology (17-02-2014)“…Understanding the molecular basis of phenotypic diversity is a critical challenge in biology, yet we know little about the mechanistic effects of different…”
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Influence of the COVID-19 pandemic on sun habits of patients with melanoma: a cross-sectional study
Published in Archives of dermatological research (24-05-2024)Get full text
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A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita
Published in Journal of the American Academy of Dermatology (01-10-2012)“…Background Pachyonychia congenita (PC) is a group of autosomal dominant keratinizing disorders caused by a mutation in one of 4 keratin genes. Previous…”
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First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder
Published in Molecular therapy (01-02-2010)“…The rare skin disorder pachyonychia congenita (PC) is an autosomal dominant syndrome that includes a disabling plantar keratoderma for which no satisfactory…”
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Quantitative multiplex immunohistochemistry reveals inter-patient lymphovascular and immune heterogeneity in primary cutaneous melanoma
Published in Frontiers in immunology (01-02-2024)“…Quantitative, multiplexed imaging is revealing complex spatial relationships between phenotypically diverse tumor infiltrating leukocyte populations and their…”
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The Mole Mapper Study, mobile phone skin imaging and melanoma risk data collected using ResearchKit
Published in Scientific data (14-02-2017)“…Sensor-embedded phones are an emerging facilitator for participant-driven research studies. Skin cancer research is particularly amenable to this approach, as…”
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Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita
Published in Journal of dermatological science (01-09-2008)“…Summary The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases…”
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Prognostic gene expression profiling in melanoma: necessary steps to incorporate into clinical practice
Published in Melanoma management (01-12-2019)“…Prognostic gene expression profiling (GEP) tests for cutaneous melanoma (CM) are not recommended in current guidelines outside of a clinical trial. However,…”
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Parent and child perspectives on family interactions related to melanoma risk and prevention after CDKN2A/p16 testing of minor children
Published in Journal of community genetics (01-07-2020)“…Predispositional genetic testing of children for adult-onset health risks is typically only used when prevention and screening measures have utility during…”
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Isolation of circulating microRNAs from microvesicles found in human plasma
Published in Methods in molecular biology (Clifton, N.J.) (01-01-2014)“…Intact miRNAs can be isolated from the circulation in significant quantities despite the presence of extremely high levels of RNase activity. The remarkable…”
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Use of Self-Delivery siRNAs to Inhibit Gene Expression in an Organotypic Pachyonychia Congenita Model
Published in Journal of investigative dermatology (01-05-2011)“…Although RNA interference offers therapeutic potential for treating skin disorders, delivery hurdles have hampered clinical translation. We have recently…”
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Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients
Published in Journal of dermatological science (01-11-2009)“…Abstract Background The macrolide sirolimus (rapamycin) selectively blocks translation of mRNAs containing a terminal 5′ oligopyrimidine (TOP) tract by…”
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CDKN2A/p16 Genetic Test Reporting Improves Early Detection Intentions and Practices in High-Risk Melanoma Families
Published in Cancer epidemiology, biomarkers & prevention (01-06-2008)“…Genetic testing for melanoma has yet to enter routine clinical use because of the scarcity of available data on the effect of test reporting. A prospective…”
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Understanding Skin Screening Practices Among Children at Elevated Risk for Melanoma to Inform Interventions for Melanoma Prevention and Control
Published in Journal of cancer education (01-06-2020)“…Melanoma is the deadliest form of skin cancer. Screening can aid in early disease detection, when treatment is more effective. Although there are currently no…”
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Clinical challenges in interpreting multiple pathogenic mutations in single patients
Published in Hereditary cancer in clinical practice (04-02-2021)“…In the past two decades, genetic testing for cancer risk assessment has entered mainstream clinical practice due to the availability of low-cost panels of…”
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Medicine: The final frontier in cancer diagnosis
Published in Nature (London) (02-02-2017)Get full text
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Patterns of failure and predictors of outcome in cutaneous malignant melanoma of the scalp
Published in Journal of the American Academy of Dermatology (01-03-2014)“…Background Patients with melanoma of the scalp may have higher failure (recurrence) rates than melanoma of other body sites. Objective We sought to…”
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Cellular and ultrastructural characterization of the grey-morph phenotype in southern right whales (Eubalaena australis)
Published in PloS one (07-02-2017)“…Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black…”
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