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Showing 1 to 12 of 14 entries
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A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data.

Cancers

Gabrielaite M, Torp MH, Rasmussen MS, Andreu-Sánchez S, Vieira FG, Pedersen CB, Kinalis S, Madsen MB, Kodama M, Demircan GS, Simonyan A, Yde CW, Olsen LR, Marvig RL, Østrup O, Rossing M, Nielsen FC, Winther O, Bagger FO.
PMID: 34944901
Cancers (Basel). 2021 Dec 14;13(24). doi: 10.3390/cancers13246283.

Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. Relevant CNVs are hard to detect because common structural variations define large parts of the human genome. CNV calling from short-read sequencing would allow single protocol full...

Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study.

Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy

Åkesson A, Martin M, Blom AM, Rossing M, Gabrielaite M, Zetterberg E, Klintman J.
PMID: 33609329
Ther Apher Dial. 2021 Dec;25(6):988-1000. doi: 10.1111/1744-9987.13634. Epub 2021 Mar 31.

Complement-mediated atypical hemolytic uremic syndrome (aHUS) is an ultra-rare renal disease primarily caused by genetic alterations in complement proteins. The genetic work-up required for confirmation of diagnosis is complicated and not always logistically accessible. The aim of the present...

Neuroprotective Effect of Taurine against Cell Death, Glial Changes, and Neuronal Loss in the Cerebellum of Rats Exposed to Chronic-Recurrent Neuroinflammation Induced by LPS.

Journal of immunology research

Silva SP, Zago AM, Carvalho FB, Germann L, Colombo GM, Rahmeier FL, Gutierres JM, Reschke CR, Bagatini MD, Assmann CE, Fernandes MDC.
PMID: 34327244
J Immunol Res. 2021 Jul 05;2021:7497185. doi: 10.1155/2021/7497185. eCollection 2021.

The present study investigated the neuroprotective effect of taurine against the deleterious effects of chronic-recurrent neuroinflammation induced by LPS in the cerebellum of rats. Adult male

Human Immunotypes Impose Selection on Viral Genotypes Through Viral Epitope Specificity.

The Journal of infectious diseases

Gabrielaite M, Bennedbæk M, Zucco AG, Ekenberg C, Murray DD, Kan VL, Touloumi G, Vandekerckhove L, Turner D, Neaton J, Lane HC, Safo S, Arenas-Pinto A, Polizzotto MN, Günthard HF, Lundgren JD, Marvig RL.
PMID: 33974707
J Infect Dis. 2021 Dec 15;224(12):2053-2063. doi: 10.1093/infdis/jiab253.

BACKGROUND: Understanding the genetic interplay between human hosts and infectious pathogens is crucial for how we interpret virulence factors. Here, we tested for associations between HIV and host genetics, and interactive genetic effects on viral load (VL) in HIV-positive...

Human Immunotypes Impose Selection on Viral Genotypes Through Viral Epitope Specificity.

The Journal of infectious diseases

Gabrielaite M, Bennedbæk M, Zucco AG, Ekenberg C, Murray DD, Kan VL, Touloumi G, Vandekerckhove L, Turner D, Neaton J, Lane HC, Safo S, Arenas-Pinto A, Polizzotto MN, Günthard HF, Lundgren JD, Marvig RL.
PMID: 33974707
J Infect Dis. 2021 Dec 15;224(12):2053-2063. doi: 10.1093/infdis/jiab253.

BACKGROUND: Understanding the genetic interplay between human hosts and infectious pathogens is crucial for how we interpret virulence factors. Here, we tested for associations between HIV and host genetics, and interactive genetic effects on viral load (VL) in HIV-positive...

Application of cell-free DNA for genomic tumor profiling: a feasibility study.

Oncotarget

Ahlborn LB, Rohrberg KS, Gabrielaite M, Tuxen IV, Yde CW, Spanggaard I, Santoni-Rugiu E, Nielsen FC, Lassen U, Mau-Sorensen M, Østrup O.
PMID: 30858924
Oncotarget. 2019 Feb 15;10(14):1388-1398. doi: 10.18632/oncotarget.26642. eCollection 2019 Feb 15.

PURPOSE: Access to genomic tumor material is required to select patients for targeted therapies. However, tissue biopsies are not always feasible and therefore circulating cell-free DNA (cfDNA) has emerged as an alternative. Here we investigate the utility of cfDNA...

High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.

NPJ genomic medicine

Bertelsen B, Tuxen IV, Yde CW, Gabrielaite M, Torp MH, Kinalis S, Oestrup O, Rohrberg K, Spangaard I, Santoni-Rugiu E, Wadt K, Mau-Sorensen M, Lassen U, Nielsen FC.
PMID: 31263571
NPJ Genom Med. 2019 Jun 21;4:13. doi: 10.1038/s41525-019-0087-6. eCollection 2019.

Genomic screening of cancer patients for predisposing variants is traditionally based on age at onset, family history and type of cancer. Whereas the clinical guidelines have proven efficient in identifying families exhibiting classical attributes of hereditary cancer, the frequency...

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data.

Cancers

Gabrielaite M, Torp MH, Rasmussen MS, Andreu-Sánchez S, Vieira FG, Pedersen CB, Kinalis S, Madsen MB, Kodama M, Demircan GS, Simonyan A, Yde CW, Olsen LR, Marvig RL, Østrup O, Rossing M, Nielsen FC, Winther O, Bagger FO.
PMID: 34944901
Cancers (Basel). 2021 Dec 14;13(24). doi: 10.3390/cancers13246283.

Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. Relevant CNVs are hard to detect because common structural variations define large parts of the human genome. CNV calling from short-read sequencing would allow single protocol full...

Human Immunotypes Impose Selection on Viral Genotypes Through Viral Epitope Specificity.

The Journal of infectious diseases

Gabrielaite M, Bennedbæk M, Zucco AG, Ekenberg C, Murray DD, Kan VL, Touloumi G, Vandekerckhove L, Turner D, Neaton J, Lane HC, Safo S, Arenas-Pinto A, Polizzotto MN, Günthard HF, Lundgren JD, Marvig RL.
PMID: 33974707
J Infect Dis. 2021 Dec 15;224(12):2053-2063. doi: 10.1093/infdis/jiab253.

BACKGROUND: Understanding the genetic interplay between human hosts and infectious pathogens is crucial for how we interpret virulence factors. Here, we tested for associations between HIV and host genetics, and interactive genetic effects on viral load (VL) in HIV-positive...

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data.

Cancers

Gabrielaite M, Torp MH, Rasmussen MS, Andreu-Sánchez S, Vieira FG, Pedersen CB, Kinalis S, Madsen MB, Kodama M, Demircan GS, Simonyan A, Yde CW, Olsen LR, Marvig RL, Østrup O, Rossing M, Nielsen FC, Winther O, Bagger FO.
PMID: 34944901
Cancers (Basel). 2021 Dec 14;13(24). doi: 10.3390/cancers13246283.

Copy-number variations (CNVs) have important clinical implications for several diseases and cancers. Relevant CNVs are hard to detect because common structural variations define large parts of the human genome. CNV calling from short-read sequencing would allow single protocol full...

Microbial genomics

Gabrielaite M, Nielsen FC, Johansen HK, Marvig RL.
PMID: 34232117
Microb Genom. 2021 Jul;7(7). doi: 10.1099/mgen.0.000582.

No abstract available.

Genomic and Phenotypic Evolution of Achromobacter xylosoxidans during Chronic Airway Infections of Patients with Cystic Fibrosis.

mSystems

Khademi SMH, Gabrielaite M, Paulsson M, Knulst M, Touriki E, Marvig RL, Påhlman LI.
PMID: 34184916
mSystems. 2021 Jun 29;e0052321. doi: 10.1128/mSystems.00523-21. Epub 2021 Jun 29.

Bacterial pathogens evolve during chronic colonization of the human host by selection for pathoadaptive mutations. One of the emerging and understudied bacterial species causing chronic airway infections in patients with cystic fibrosis (CF) is Achromobacter xylosoxidans. It can establish...

Showing 1 to 12 of 14 entries