Search Results - "Nazneen Aziz"
-
1
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Published in Genetics in medicine (01-05-2015)“…Disclaimer: These ACMG Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide…”
Get full text
Journal Article Conference Proceeding -
2
Targeting fibroblast activation protein inhibits tumor stromagenesis and growth in mice
Published in The Journal of clinical investigation (01-12-2009)“…Membrane-bound proteases have recently emerged as critical mediators of tumorigenesis, angiogenesis, and metastasis. However, the mechanisms by which they…”
Get full text
Journal Article -
3
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests
Published in Archives of pathology & laboratory medicine (1976) (01-04-2015)“…The higher throughput and lower per-base cost of next-generation sequencing (NGS) as compared to Sanger sequencing has led to its rapid adoption in clinical…”
Get full text
Journal Article -
4
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health
Published in PLoS medicine (02-08-2018)“…In a Policy Forum, Muin Khoury and colleagues discuss research on the clinical application of genome sequencing data…”
Get full text
Journal Article -
5
Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context
Published in Human molecular genetics (15-02-2006)“…We questioned the significance of haplotype structure in gene regulation by testing whether individual single nucleotide polymorphisms (SNPs) within a gene…”
Get full text
Journal Article -
6
Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health
Published in PLoS medicine (01-08-2018)“…[This corrects the article DOI: 10.1371/journal.pmed.1002631.]…”
Get full text
Journal Article -
7
Inhibitor of DASH proteases affects expression of adhesion molecules in osteoclasts and reduces myeloma growth and bone disease
Published in British journal of haematology (01-06-2009)“…Summary Dipeptidyl peptidase (DPP) IV activity and/or structure homologues (DASH) are serine proteases implicated in tumourigenesis. We previously found that a…”
Get full text
Journal Article -
8
Iron Regulates Ferritin mRNA Translation through a Segment of Its 5′ Untranslated Region
Published in Proceedings of the National Academy of Sciences - PNAS (01-12-1987)“…In previous studies, we showed that acute administration of iron to intact rats or to rat hepatoma cells in culture induces synthesis of the iron-storage…”
Get full text
Journal Article -
9
Good laboratory practice for clinical next-generation sequencing informatics pipelines
Published in Nature biotechnology (01-07-2015)Get full text
Journal Article -
10
Demographic differences in the utilization of clinical and direct‐to‐consumer genetic testing
Published in Journal of genetic counseling (01-08-2020)“…Genetic testing has increased over the last decade due to growth in the number of clinical and direct‐to‐consumer (DTC) tests. However, there is uncertainty…”
Get full text
Journal Article -
11
Fibroblast activation protein-α promotes tumor growth and invasion of breast cancer cells through non-enzymatic functions
Published in Clinical & experimental metastasis (01-08-2011)“…Fibroblast activation protein-α (FAP) is a cell surface, serine protease of the post-prolyl peptidase family that is expressed in human breast cancer but not…”
Get full text
Journal Article -
12
Methods-Based Proficiency Testing in Molecular Genetic Pathology
Published in The Journal of molecular diagnostics : JMD (01-05-2014)“…This Perspectives article describes methods-based proficiency testing (MBPT), the benefits and limitations of MBPT, why the time is right for MBPT in molecular…”
Get full text
Journal Article -
13
Both subunits of rat liver ferritin are regulated at a translational level by iron induction
Published in Nucleic acids research (24-01-1986)“…A few hours after administering iron to rats, liver ferritin synthesis increases several fold. However, Northern blot analysis with cDNA probes for ferritin…”
Get full text
Journal Article -
14
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology
Published in The Journal of molecular diagnostics : JMD (01-11-2012)“…This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical…”
Get full text
Journal Article -
15
Response to Biesecker and Harrison
Published in Genetics in medicine (01-12-2018)Get full text
Journal Article -
16
Return of Research-Related Genetic Test Results and Genetic Discrimination Concerns: Facilitators and Barriers of Genetic Research Participation in Diverse Groups
Published in Public health genomics (2020)“…Most genetics studies lack the diversity necessary to ensure that all groups benefit from genetic research. To explore facilitators and barriers to genetic…”
Get more information
Journal Article -
17
Ke 6 Gene
Published in The Journal of biological chemistry (20-10-1995)“…Ke 6 gene is a newly identified gene located in the major histocompatibility complex and is a candidate steroid dehydrogenase gene because of structural…”
Get full text
Journal Article -
18
Physician Experience with Direct-To-Consumer Genetic Testing in Kaiser Permanente
Published in Journal of personalized medicine (01-11-2019)“…Health systems and physicians nationwide aspire to consistently and reliably apply genetic and genomic information to guide disease prevention, management, and…”
Get full text
Journal Article -
19
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings
Published in The Journal of molecular diagnostics : JMD (01-05-2017)“…A national workgroup convened by the Centers for Disease Control and Prevention identified principles and made recommendations for standardizing the…”
Get full text
Journal Article -
20
Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations
Published in Annals of the rheumatic diseases (01-05-2010)“…A lack of biomarkers that identify patients at risk for severe osteoarthritis (OA) complicates development of disease-modifying OA drugs. To determine whether…”
Get more information
Journal Article