LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 5 of total 5

Search options

  1. Article ; Online: Radiomics and radiogenomics in gliomas: a contemporary update.

    Singh, Gagandeep / Manjila, Sunil / Sakla, Nicole / True, Alan / Wardeh, Amr H / Beig, Niha / Vaysberg, Anatoliy / Matthews, John / Prasanna, Prateek / Spektor, Vadim

    British journal of cancer

    2021  Volume 125, Issue 5, Page(s) 641–657

    Abstract: The natural history and treatment landscape of primary brain tumours are complicated by the varied tumour behaviour of primary or secondary gliomas (high-grade transformation of low-grade lesions), as well as the dilemmas with identification of radiation ...

    Abstract The natural history and treatment landscape of primary brain tumours are complicated by the varied tumour behaviour of primary or secondary gliomas (high-grade transformation of low-grade lesions), as well as the dilemmas with identification of radiation necrosis, tumour progression, and pseudoprogression on MRI. Radiomics and radiogenomics promise to offer precise diagnosis, predict prognosis, and assess tumour response to modern chemotherapy/immunotherapy and radiation therapy. This is achieved by a triumvirate of morphological, textural, and functional signatures, derived from a high-throughput extraction of quantitative voxel-level MR image metrics. However, the lack of standardisation of acquisition parameters and inconsistent methodology between working groups have made validations unreliable, hence multi-centre studies involving heterogenous study populations are warranted. We elucidate novel radiomic and radiogenomic workflow concepts and state-of-the-art descriptors in sub-visual MR image processing, with relevant literature on applications of such machine learning techniques in glioma management.
    MeSH term(s) Brain Neoplasms/diagnostic imaging ; Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Genomics/methods ; Glioma/diagnostic imaging ; Glioma/genetics ; Glioma/pathology ; Humans ; Machine Learning ; Magnetic Resonance Imaging ; Neoplasm Grading ; Prognosis ; Radiographic Image Interpretation, Computer-Assisted/methods
    Language English
    Publishing date 2021-05-06
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 80075-2
    ISSN 1532-1827 ; 0007-0920
    ISSN (online) 1532-1827
    ISSN 0007-0920
    DOI 10.1038/s41416-021-01387-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Uh III Zs.142: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Trajectory of exonic variant discovery in a large clinical population: implications for variant curation.

    Mirshahi, Uyenlinh L / Luo, Jonathan Z / Manickam, Kandamurugu / Wardeh, Amr H / Mirshahi, Tooraj / Murray, Michael F / Carey, David J

    Genetics in medicine : official journal of the American College of Medical Genetics

    2018  Volume 21, Issue 6, Page(s) 1417–1424

    Abstract: Purpose: Precision health initiatives and reduced sequencing costs are driving large-scale human genome analyses. Genetic variant curation is a bottleneck in clinical applications. The burden of variant curation can be high for newly discovered variants ...

    Abstract Purpose: Precision health initiatives and reduced sequencing costs are driving large-scale human genome analyses. Genetic variant curation is a bottleneck in clinical applications. The burden of variant curation can be high for newly discovered variants because they are less likely to have undergone previous clinical annotation; the rate of discovery of genetic variants in large clinical populations has not been empirically determined.
    Methods: We determined the rate of accrual of unique sequence variants in 90,000 exome sequences. Separate analyses were done for 17,267 autosomal genes and a subset of 74 actionable genes; the effect of relatedness in the cohort was also determined.
    Results: Variant discovery showed a nonlinear growth pattern. The rate of unique variant accrual decreased as the database size increased; by 90,000 exomes 97% of all projected coding and splicing variants had been observed. Variants in 74 actionable genes showed a similar pattern. Family relatedness slightly reduced the rate of discovery of unique variants.
    Conclusion: The heaviest burden of interpretation for genetic variants occurs early and diminishes as the database size increases. Our data provide a framework for scaling pathogenic genetic variant discovery and curation, a critical element of patient care in the era of precision health.
    MeSH term(s) Adult ; Data Curation/methods ; Databases, Genetic ; Exome/genetics ; Exons/genetics ; Female ; Gene Frequency/genetics ; Genetic Variation/genetics ; Humans ; Incidental Findings ; Male ; Whole Exome Sequencing/methods
    Language English
    Publishing date 2018-11-19
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-018-0353-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5059: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: A loss of function variant in CASP7 protects against Alzheimer's disease in homozygous APOE ε4 allele carriers.

    Ayers, Kristin L / Mirshahi, Uyenlinh L / Wardeh, Amr H / Murray, Michael F / Hao, Ke / Glicksberg, Benjamin S / Li, Shuyu / Carey, David J / Chen, Rong

    BMC genomics

    2016  Volume 17 Suppl 2, Page(s) 445

    Abstract: Background: Alzheimer's disease (AD) represents the most common form of dementia in elder populations with approximately 30 million cases worldwide. Genome wide genotyping and sequencing studies have identified many genetic variants associated with late- ...

    Abstract Background: Alzheimer's disease (AD) represents the most common form of dementia in elder populations with approximately 30 million cases worldwide. Genome wide genotyping and sequencing studies have identified many genetic variants associated with late-onset Alzheimer's disease (LOAD). While most of these variants are associated with increased risk of developing LOAD, only limited number of reports focused on variants that are protective against the disease.
    Methods: Here we applied a novel approach to uncover protective alleles against AD by analyzing genetic and phenotypic data in Mount Sinai Biobank and Electronic Medical Record (EMR) databases.
    Results: We discovered a likely loss-of-function small deletion variant in the caspase 7 (CASP7) gene associated with significantly reduced incidence of LOAD in carriers of the high-risk APOE ε4 allele. Further investigation of four independent cohorts of European ancestry revealed the protective effect of the CASP7 variant against AD is most significant in homozygous APOE ε4 allele carriers. Meta analysis of multiple datasets shows overall odds ratio = 0.45 (p = 0.004). Analysis of RNA sequencing derived gene expression data indicated the variant correlates with reduced caspase 7 expression in multiple brain tissues we examined.
    Conclusions: Taken together, these results are consistent with the notion that caspase 7 plays a key role in microglial activation driving neuro-degeneration during AD pathogenesis, and may explain the underlying genetic mechanisms that anti-inflammatory interventions in AD show greater benefit in APOE ε4 carriers than non-carriers. Our findings inform potential novel therapeutic opportunities for AD and warrant further investigations.
    MeSH term(s) Age of Onset ; Alleles ; Alzheimer Disease/genetics ; Apolipoproteins E/genetics ; Caspase 7/genetics ; Down-Regulation ; Electronic Health Records ; Gene Expression Profiling/methods ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Odds Ratio ; Sequence Analysis, RNA/methods ; Sequence Deletion
    Chemical Substances ApoE protein, human ; Apolipoproteins E ; CASP7 protein, human (EC 3.4.22.-) ; Caspase 7 (EC 3.4.22.-)
    Language English
    Publishing date 2016--23
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1471-2164
    ISSN (online) 1471-2164
    DOI 10.1186/s12864-016-2725-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  4. Article ; Online: Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

    Abul-Husn, Noura S / Manickam, Kandamurugu / Jones, Laney K / Wright, Eric A / Hartzel, Dustin N / Gonzaga-Jauregui, Claudia / O'Dushlaine, Colm / Leader, Joseph B / Lester Kirchner, H / Lindbuchler, D'Andra M / Barr, Marci L / Giovanni, Monica A / Ritchie, Marylyn D / Overton, John D / Reid, Jeffrey G / Metpally, Raghu P R / Wardeh, Amr H / Borecki, Ingrid B / Yancopoulos, George D /
    Baras, Aris / Shuldiner, Alan R / Gottesman, Omri / Ledbetter, David H / Carey, David J / Dewey, Frederick E / Murray, Michael F

    Science (New York, N.Y.)

    2016  Volume 354, Issue 6319

    Abstract: Familial hypercholesterolemia (FH) remains underdiagnosed despite widespread cholesterol screening. Exome sequencing and electronic health record (EHR) data of 50,726 individuals were used to assess the prevalence and clinical impact of FH-associated ... ...

    Abstract Familial hypercholesterolemia (FH) remains underdiagnosed despite widespread cholesterol screening. Exome sequencing and electronic health record (EHR) data of 50,726 individuals were used to assess the prevalence and clinical impact of FH-associated genomic variants in the Geisinger Health System. The estimated FH prevalence was 1:256 in unselected participants and 1:118 in participants ascertained via the cardiac catheterization laboratory. FH variant carriers had significantly increased risk of coronary artery disease. Only 24% of carriers met EHR-based presequencing criteria for probable or definite FH diagnosis. Active statin use was identified in 58% of carriers; 46% of statin-treated carriers had a low-density lipoprotein cholesterol level below 100 mg/dl. Thus, we find that genomic screening can prompt the diagnosis of FH patients, most of whom are receiving inadequate lipid-lowering therapy.
    MeSH term(s) Coloring Agents/therapeutic use ; Coronary Artery Disease/epidemiology ; Delivery of Health Care ; Drug Utilization/statistics & numerical data ; Electronic Health Records ; Exome/genetics ; Genetic Testing ; Heterozygote ; Humans ; Hyperlipoproteinemia Type II/diagnosis ; Hyperlipoproteinemia Type II/epidemiology ; Hyperlipoproteinemia Type II/genetics ; Lipoproteins, LDL/blood ; Prevalence ; United States/epidemiology
    Chemical Substances Coloring Agents ; Lipoproteins, LDL
    Language English
    Publishing date 2016-12-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.aaf7000
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 27: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 77: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

    Gusarova, Viktoria / O'Dushlaine, Colm / Teslovich, Tanya M / Benotti, Peter N / Mirshahi, Tooraj / Gottesman, Omri / Van Hout, Cristopher V / Murray, Michael F / Mahajan, Anubha / Nielsen, Jonas B / Fritsche, Lars / Wulff, Anders Berg / Gudbjartsson, Daniel F / Sjögren, Marketa / Emdin, Connor A / Scott, Robert A / Lee, Wen-Jane / Small, Aeron / Kwee, Lydia C /
    Dwivedi, Om Prakash / Prasad, Rashmi B / Bruse, Shannon / Lopez, Alexander E / Penn, John / Marcketta, Anthony / Leader, Joseph B / Still, Christopher D / Kirchner, H Lester / Mirshahi, Uyenlinh L / Wardeh, Amr H / Hartle, Cassandra M / Habegger, Lukas / Fetterolf, Samantha N / Tusie-Luna, Teresa / Morris, Andrew P / Holm, Hilma / Steinthorsdottir, Valgerdur / Sulem, Patrick / Thorsteinsdottir, Unnur / Rotter, Jerome I / Chuang, Lee-Ming / Damrauer, Scott / Birtwell, David / Brummett, Chad M / Khera, Amit V / Natarajan, Pradeep / Orho-Melander, Marju / Flannick, Jason / Lotta, Luca A / Willer, Cristen J / Holmen, Oddgeir L / Ritchie, Marylyn D / Ledbetter, David H / Murphy, Andrew J / Borecki, Ingrid B / Reid, Jeffrey G / Overton, John D / Hansson, Ola / Groop, Leif / Shah, Svati H / Kraus, William E / Rader, Daniel J / Chen, Yii-Der I / Hveem, Kristian / Wareham, Nicholas J / Kathiresan, Sekar / Melander, Olle / Stefansson, Kari / Nordestgaard, Børge G / Tybjærg-Hansen, Anne / Abecasis, Goncalo R / Altshuler, David / Florez, Jose C / Boehnke, Michael / McCarthy, Mark I / Yancopoulos, George D / Carey, David J / Shuldiner, Alan R / Baras, Aris / Dewey, Frederick E / Gromada, Jesper

    Nature communications

    2018  Volume 9, Issue 1, Page(s) 2252

    Abstract: Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeostasis and ... ...

    Abstract Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose homeostasis and decrease risk of type 2 diabetes (T2D). We investigate protein-altering variants in ANGPTL4 among 58,124 participants in the DiscovEHR human genetics study, with follow-up studies in 82,766 T2D cases and 498,761 controls. Carriers of p.E40K, a variant that abolishes ANGPTL4 ability to inhibit lipoprotein lipase, have lower odds of T2D (odds ratio 0.89, 95% confidence interval 0.85-0.92, p = 6.3 × 10
    MeSH term(s) Amino Acid Substitution ; Angiopoietin-Like Protein 4/deficiency ; Angiopoietin-Like Protein 4/genetics ; Angiopoietin-Like Protein 4/metabolism ; Animals ; Blood Glucose/metabolism ; Case-Control Studies ; Diabetes Mellitus, Type 2/etiology ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/metabolism ; Female ; Gene Silencing ; Genetic Association Studies ; Genetic Variation ; Heterozygote ; Homeostasis ; Humans ; Insulin Resistance/genetics ; Lipoprotein Lipase/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Risk Factors ; Whole Exome Sequencing
    Chemical Substances ANGPTL4 protein, human ; Angiopoietin-Like Protein 4 ; Angptl4 protein, mouse ; Blood Glucose ; Lipoprotein Lipase (EC 3.1.1.34)
    Language English
    Publishing date 2018-06-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-018-04611-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top