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: High-dimensional phenotyping to define the genetic basis of cellular morphology

    Matthew Tegtmeyer / Jatin Arora / Samira Asgari / Beth A. Cimini / Ajay Nadig / Emily Peirent / Dhara Liyanage / Gregory P. Way / Erin Weisbart / Aparna Nathan / Tiffany Amariuta / Kevin Eggan / Marzieh Haghighi / Steven A. McCarroll / Luke O’Connor / Anne E. Carpenter / Shantanu Singh / Ralda Nehme / Soumya Raychaudhuri

    Nature Communications, Vol 15, Iss 1, Pp 1-

    2024  Volume 12

    Abstract: Abstract The morphology of cells is dynamic and mediated by genetic and environmental factors. Characterizing how genetic variation impacts cell morphology can provide an important link between disease association and cellular function. Here, we combine ... ...

    Abstract Abstract The morphology of cells is dynamic and mediated by genetic and environmental factors. Characterizing how genetic variation impacts cell morphology can provide an important link between disease association and cellular function. Here, we combine genomic sequencing and high-content imaging approaches on iPSCs from 297 unique donors to investigate the relationship between genetic variants and cellular morphology to map what we term cell morphological quantitative trait loci (cmQTLs). We identify novel associations between rare protein altering variants in WASF2, TSPAN15, and PRLR with several morphological traits related to cell shape, nucleic granularity, and mitochondrial distribution. Knockdown of these genes by CRISPRi confirms their role in cell morphology. Analysis of common variants yields one significant association and nominate over 300 variants with suggestive evidence (P < 10−6) of association with one or more morphology traits. We then use these data to make predictions about sample size requirements for increasing discovery in cellular genetic studies. We conclude that, similar to molecular phenotypes, morphological profiling can yield insight about the function of genes and variants.
    Keywords Science ; Q
    Subject code 500
    Language English
    Publishing date 2024-01-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    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.

  2. Article: Isolated appendiceal endometriosis resulting in intussusception.

    Manoharan, Bairavi / Haider, Asma S / Samira, Asgari Mowahed / Bharathan, Balamurali / Parra-Blanco, Adolfo

    Oxford medical case reports

    2018  Volume 2018, Issue 10, Page(s) omy099

    Abstract: An inverted (intussuscepted) appendix is a rare finding, often mistaken for a polyp as it presents with vague symptoms. This can result in misdiagnosis and inappropriate management. Diagnosis is usually made through surgery. Rarely, endometriosis has ... ...

    Abstract An inverted (intussuscepted) appendix is a rare finding, often mistaken for a polyp as it presents with vague symptoms. This can result in misdiagnosis and inappropriate management. Diagnosis is usually made through surgery. Rarely, endometriosis has been found as the cause of the intussusception. A 42-year-old woman presented with frequent loose stools over 2 years, an elevated calprotectin over 400 μg/g faeces (normal <110) and a serum C-reactive protein of 40 mg/l (normal <5 mg/l). Endoscopy showed an inverted appendix. Histopathology results showed inflammation and ulceration. Laparoscopic appendicectomy was performed successfully, and endometriosis was found on the inverted appendix. This is the first case reported of an inverted appendix containing endometriosis, in which the intussusception of the appendix has been diagnosed on endoscopy. This case highlights how endometriosis can involve just the appendix, without any involvement of reproductive organs. We suggest considering inverted appendix as a differential diagnosis when investigating caecal lesions.
    Language English
    Publishing date 2018-09-26
    Publishing country England
    Document type Case Reports
    ZDB-ID 2766251-2
    ISSN 2053-8855
    ISSN 2053-8855
    DOI 10.1093/omcr/omy099
    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.

  3. Article ; Online: A sex-specific evolutionary interaction between ADCY9 and CETP

    Isabel Gamache / Marc-André Legault / Jean-Christophe Grenier / Rocio Sanchez / Eric Rhéaume / Samira Asgari / Amina Barhdadi / Yassamin Feroz Zada / Holly Trochet / Yang Luo / Leonid Lecca / Megan Murray / Soumya Raychaudhuri / Jean-Claude Tardif / Marie-Pierre Dubé / Julie Hussin

    eLife, Vol

    2021  Volume 10

    Abstract: Pharmacogenomic studies have revealed associations between rs1967309 in the adenylyl cyclase type 9 (ADCY9) gene and clinical responses to the cholesteryl ester transfer protein (CETP) modulator dalcetrapib, however, the mechanism behind this interaction ...

    Abstract Pharmacogenomic studies have revealed associations between rs1967309 in the adenylyl cyclase type 9 (ADCY9) gene and clinical responses to the cholesteryl ester transfer protein (CETP) modulator dalcetrapib, however, the mechanism behind this interaction is still unknown. Here, we characterized selective signals at the locus associated with the pharmacogenomic response in human populations and we show that rs1967309 region exhibits signatures of positive selection in several human populations. Furthermore, we identified a variant in CETP, rs158477, which is in long-range linkage disequilibrium with rs1967309 in the Peruvian population. The signal is mainly seen in males, a sex-specific result that is replicated in the LIMAA cohort of over 3400 Peruvians. Analyses of RNA-seq data further suggest an epistatic interaction on CETP expression levels between the two SNPs in multiple tissues, which also differs between males and females. We also detected interaction effects of the two SNPs with sex on cardiovascular phenotypes in the UK Biobank, in line with the sex-specific genotype associations found in Peruvians at these loci. We propose that ADCY9 and CETP coevolved during recent human evolution due to sex-specific selection, which points toward a biological link between dalcetrapib’s pharmacogene ADCY9 and its therapeutic target CETP.
    Keywords population genetics ; pharmacogenomics ; transcriptomics ; phenotype associations ; cardiovascular disease ; linkage disequilibrium ; Medicine ; R ; Science ; Q ; Biology (General) ; QH301-705.5
    Subject code 590
    Language English
    Publishing date 2021-10-01T00:00:00Z
    Publisher eLife Sciences Publications Ltd
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    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: Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians

    Yang Luo / Sara Suliman / Samira Asgari / Tiffany Amariuta / Yuriy Baglaenko / Marta Martínez-Bonet / Kazuyoshi Ishigaki / Maria Gutierrez-Arcelus / Roger Calderon / Leonid Lecca / Segundo R. León / Judith Jimenez / Rosa Yataco / Carmen Contreras / Jerome T. Galea / Mercedes Becerra / Sergey Nejentsev / Peter A. Nigrovic / D. Branch Moody /
    Megan B. Murray / Soumya Raychaudhuri

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Volume 10

    Abstract: Between 5 and 15% of latent Mycobacterium tuberculosis infections develop into active tuberculosis (TB). Here, Luo et al. report a genome-wide association study for early TB progression in a total of 4002 active TB cases and their household contacts in ... ...

    Abstract Between 5 and 15% of latent Mycobacterium tuberculosis infections develop into active tuberculosis (TB). Here, Luo et al. report a genome-wide association study for early TB progression in a total of 4002 active TB cases and their household contacts in Peru and they identify a locus on 3q23 in which ATP1B3 is mapped as the likely causal gene.
    Keywords Science ; Q
    Language English
    Publishing date 2019-08-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    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.

  5. Article ; Online: Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians

    Yang Luo / Sara Suliman / Samira Asgari / Tiffany Amariuta / Yuriy Baglaenko / Marta Martínez-Bonet / Kazuyoshi Ishigaki / Maria Gutierrez-Arcelus / Roger Calderon / Leonid Lecca / Segundo R. León / Judith Jimenez / Rosa Yataco / Carmen Contreras / Jerome T. Galea / Mercedes Becerra / Sergey Nejentsev / Peter A. Nigrovic / D. Branch Moody /
    Megan B. Murray / Soumya Raychaudhuri

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Volume 10

    Abstract: Between 5 and 15% of latent Mycobacterium tuberculosis infections develop into active tuberculosis (TB). Here, Luo et al. report a genome-wide association study for early TB progression in a total of 4002 active TB cases and their household contacts in ... ...

    Abstract Between 5 and 15% of latent Mycobacterium tuberculosis infections develop into active tuberculosis (TB). Here, Luo et al. report a genome-wide association study for early TB progression in a total of 4002 active TB cases and their household contacts in Peru and they identify a locus on 3q23 in which ATP1B3 is mapped as the likely causal gene.
    Keywords Science ; Q
    Language English
    Publishing date 2019-08-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    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.

To top