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   Articles with "gene" as a keyword



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Utility of a Noninvasive 2-Gene Molecular Assay for Cutaneous Melanoma and Effect on the Decision to Biopsy

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recommendations! Published in 2017 at "JAMA Dermatology"

DOI: 10.1001/jamadermatol.2017.0473

Abstract: Importance Expression of long intergenic non–protein coding RNA 518 (LINC00518) and preferentially expressed antigen in melanoma (PRAME) genes, obtained via noninvasive adhesive patch biopsy, is a sensitive and specific method for detection of cutaneous melanoma.… read more here.

Keywords: biopsy; utility; pla; cutaneous melanoma ... See more keywords
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Association of Retinoic Acid Receptor &bgr; Gene With Onset and Progression of Lichen Sclerosus–Associated Vulvar Squamous Cell Carcinoma

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recommendations! Published in 2018 at "JAMA Dermatology"

DOI: 10.1001/jamadermatol.2018.1373

Abstract: Importance Molecular alterations in lichen sclerosus–associated vulvar squamous cell carcinoma (LS-VSCC) are largely unknown. Objective To determine whether the retinoic acid receptor &bgr; (RAR&bgr;) tumor-suppressor gene is involved in the onset and/or progression of LS-VSCC.… read more here.

Keywords: bgr; rar bgr; vscc; normal skin ... See more keywords
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Understanding Titin Variants in the Age of Next-Generation Sequencing-A Titanic Challenge.

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recommendations! Published in 2018 at "JAMA neurology"

DOI: 10.1001/jamaneurol.2017.3068

Abstract: The titin gene (TTN), with its 364 exons, encodes the largest human protein. It gives rise to a dizzying array of alternatively spliced isoforms differentially expressed in various skeletal muscles, heart, and in development. Titin… read more here.

Keywords: challenge; ttn; gene; next generation ... See more keywords
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Association of 70-Gene Signature Assay Findings With Physicians’ Treatment Guidance for Patients With Early Breast Cancer Classified as Intermediate Risk by the 21-Gene Assay

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recommendations! Published in 2018 at "JAMA Oncology"

DOI: 10.1001/jamaoncol.2017.3470

Abstract: Importance Among patients who undergo the 21-gene assay (21-GA), 39% to 67% receive an intermediate risk result and may receive ambiguous treatment guidance. The 70-gene signature assay (70-GS) may be associated with physicians’ treatment decisions… read more here.

Keywords: risk; treatment; breast cancer; intermediate risk ... See more keywords
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Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.

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recommendations! Published in 2022 at "JAMA oncology"

DOI: 10.1001/jamaoncol.2022.5425

Abstract: Importance Germline sequence variations in APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, and TP53 genes are associated with susceptibility to gastrointestinal cancers. As a rare cancer, the evaluation of… read more here.

Keywords: cancer susceptibility; sequence; gene; cancer ... See more keywords
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Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study

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recommendations! Published in 2018 at "JAMA Ophthalmology"

DOI: 10.1001/jamaophthalmol.2018.3190

Abstract: Importance To date, several targeted genetic studies on chronic central serous chorioretinopathy (cCSC) have been performed; however, unbiased genome-wide studies into the genetics of cCSC have not been reported. To discover new genetic loci associated… read more here.

Keywords: genome wide; chronic central; association; complement ... See more keywords
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Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.

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recommendations! Published in 2019 at "JAMA ophthalmology"

DOI: 10.1001/jamaophthalmol.2019.3914

Abstract: Importance Next-generation sequencing can detect variants of uncertain significance (VUSs), for some of which gene therapy would not be advantageous. Therefore, the pathogenicity of compound heterozygous or homozygous variants should be confirmed before bilateral vitrectomy… read more here.

Keywords: vitro mutagenesis; gene therapy; rpe65; pathogenicity ... See more keywords
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Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

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recommendations! Published in 2021 at "JAMA ophthalmology"

DOI: 10.1001/jamaophthalmol.2021.4102

Abstract: Importance Early-onset drusen maculopathy (EODM) is a severe disease and can lead to advanced macular degeneration early in life; however, genetic and phenotypic characteristics of individuals with EODM are not well studied. Objective To identify… read more here.

Keywords: early onset; age; factor; gene ... See more keywords
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A Budget Impact Analysis of Gene Therapy for Sickle Cell Disease: The Medicaid Perspective.

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recommendations! Published in 2021 at "JAMA pediatrics"

DOI: 10.1001/jamapediatrics.2020.7140

Abstract: Importance Hundreds of gene therapies are undergoing clinical testing and are likely to be priced more than $1 million per course of treatment. The association that high prices will have with insurance coverage of gene… read more here.

Keywords: budget impact; gene; gene therapy; disease ... See more keywords
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Association of a Schizophrenia-Risk Nonsynonymous Variant With Putamen Volume in Adolescents

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recommendations! Published in 2019 at "JAMA Psychiatry"

DOI: 10.1001/jamapsychiatry.2018.4126

Abstract: Importance Deviation from normal adolescent brain development precedes manifestations of many major psychiatric symptoms. Such altered developmental trajectories in adolescents may be linked to genetic risk for psychopathology. Objective To identify genetic variants associated with… read more here.

Keywords: risk; volume; study; association ... See more keywords
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Derepression of matrix metalloproteinase gene transcription and an emphysema‐like phenotype in transcription factor Zbtb7c knockout mouse lungs

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recommendations! Published in 2019 at "FEBS Letters"

DOI: 10.1002/1873-3468.13501

Abstract: Dysregulated matrix metalloproteinase (MMP) gene expression is a major cause of the degradation of lung tissue that is integral to emphysema pathogenesis. Cigarette smoking (CS) increases MMP gene expression, a major contributor to emphysema development.… read more here.

Keywords: mouse lungs; transcription; zbtb7c; matrix metalloproteinase ... See more keywords