SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "hsv:(MEDICIN OCH HÄLSOVETENSKAP) hsv:(Medicinska och farmaceutiska grundvetenskaper) hsv:(Medicinsk genetik) ;lar1:(uu)"

Sökning: hsv:(MEDICIN OCH HÄLSOVETENSKAP) hsv:(Medicinska och farmaceutiska grundvetenskaper) hsv:(Medicinsk genetik) > Uppsala universitet

  • Resultat 1-10 av 1254
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  • Lindberg, Frida A., et al. (författare)
  • SLC38A10 knockout mice display a decreased body weight and an increased risk-taking behavior in the open field test
  • 2022
  • Ingår i: Frontiers in Behavioral Neuroscience. - : Frontiers Media S.A.. - 1662-5153 .- 1662-5153. ; 16
  • Tidskriftsartikel (refereegranskat)abstract
    • The solute carrier 38 family (SLC38) is a family of 11 members. The most commonsubstrate among these are alanine and glutamine, and members are present in a widerange of tissues with important functions for several biological processes, such as liverand brain function. Some of these transporters are better characterized than others and,in this paper, a behavioral characterization of SLC38A10−/− mice was carried out. Abattery of tests for general activity, emotionality, motor function, and spatial memorywere used. Among these tests, the elevated plus maze, Y-maze, marble burying, andchallenging beamwalk have not been tested on the SLC38A10−/− mice previously, whilethe open field and the rotarod tests have been performed by the International MousePhenotyping Consortium (IMPC). Unlike the results from IMPC, the results from this studyshowed that SLC38A10−/− mice spend less time in the wall zone in the open field testthan WT mice, implying that SLC38A10-deficient mice have an increased explorativebehavior, which suggests an important function of SLC38A10 in brain. The present studyalso confirmed IMPC’s data regarding rotarod performance and weight, showing thatSLC38A10−/− mice do not have an affected motor coordination impairment and havea lower body weight than both SLC38A10+/− and SLC38A10+/+ mice. These resultsimply that a complete deficiency of the SLC38A10 protein might affect body weighthomeostasis, but the underlying mechanisms needs to be studied further.
  •  
2.
  •  
3.
  • Moens, Lotte N. J., et al. (författare)
  • HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples
  • 2015
  • Ingår i: Journal of Molecular Diagnostics. - : Elsevier BV. - 1525-1578 .- 1943-7811. ; 17:6, s. 729-739
  • Tidskriftsartikel (refereegranskat)abstract
    • In recent years, the advent of massively parallel next-generation sequencing technologies has enabled substantial advances in the study of human diseases. Combined with targeted DNA enrichment methods, high sequence coverage can be obtained for different genes simultaneously at a reduced cost per sample, creating unique opportunities for clinical cancer diagnostics. However, the formalin-fixed, paraffin-embedded (FFPE) process of tissue samples, routinely used in pathology departments, results in DNA fragmentation and nucleotide modifications that introduce a number of technical challenges for downstream biomotecular analyses. We evaluated the HaloPlex target enrichment system for somatic mutation detection in 80 tissue fractions derived from 20 clinical cancer cases with paired tumor and normal tissue available in both FFPE and fresh-frozen format. Several modifications to the standard method were introduced, including a reduced target fragment Length and two strand capturing. We found that FFPE material can be used for HaloPlex-based target enrichment and next-generation sequencing, even when starting from small amounts of DNA. By specifically capturing both strands for each target fragment, we were able to reduce the number of false-positive errors caused by FFPE-induced artifacts and Lower the detection limit for somatic mutations. We believe that the HaloPlex method presented here will be broadly applicable as a tool for somatic mutation detection in clinical cancer settings.
  •  
4.
  •  
5.
  • Björn, Niclas, et al. (författare)
  • Genes and variants in hematopoiesis-related pathways are associated with gemcitabine/carboplatin-induced thrombocytopenia
  • 2020
  • Ingår i: The Pharmacogenomics Journal. - : Nature Publishing Group. - 1470-269X .- 1473-1150. ; 20:2, s. 179-191
  • Tidskriftsartikel (refereegranskat)abstract
    • Chemotherapy-induced myelosuppression, including thrombocytopenia, is a recurrent problem during cancer treatments that may require dose alterations or cessations that could affect the antitumor effect of the treatment. To identify genetic markers associated with treatment-induced thrombocytopenia, we whole-exome sequenced 215 non-small cell lung cancer patients homogeneously treated with gemcitabine/carboplatin. The decrease in platelets (defined as nadir/baseline) was used to assess treatment-induced thrombocytopenia. Association between germline genetic variants and thrombocytopenia was analyzed at single-nucleotide variant (SNV) (based on the optimal false discovery rate, the severity of predicted consequence, and effect), gene, and pathway levels. These analyses identified 130 SNVs/INDELs and 25 genes associated with thrombocytopenia (P-value < 0.002). Twenty-three SNVs were validated in an independent genome-wide association study (GWAS). The top associations include rs34491125 in JMJD1C (P-value = 9.07 × 10−5), the validated variants rs10491684 in DOCK8 (P-value = 1.95 × 10−4), rs6118 in SERPINA5 (P-value = 5.83 × 10−4), and rs5877 in SERPINC1 (P-value = 1.07 × 10−3), and the genes CAPZA2 (P-value = 4.03 × 10−4) and SERPINC1 (P-value = 1.55 × 10−3). The SNVs in the top-scoring pathway “Factors involved in megakaryocyte development and platelet production” (P-value = 3.34 × 10−4) were used to construct weighted genetic risk score (wGRS) and logistic regression models that predict thrombocytopenia. The wGRS predict which patients are at high or low toxicity risk levels, for CTCAE (odds ratio (OR) = 22.35, P-value = 1.55 × 10−8), and decrease (OR = 66.82, P-value = 5.92 × 10−9). The logistic regression models predict CTCAE grades 3–4 (receiver operator characteristics (ROC) area under the curve (AUC) = 0.79), and large decrease (ROC AUC = 0.86). We identified and validated genetic variations within hematopoiesis-related pathways that provide a solid foundation for future studies using genetic markers for predicting chemotherapy-induced thrombocytopenia and personalizing treatments.
  •  
6.
  •  
7.
  • Tour, Jeanette, et al. (författare)
  • Gene-to-gene interactions regulate endogenous pain modulation in fibromyalgia patients and healthy controls-antagonistic effects between opioid and serotonin-related genes.
  • 2017
  • Ingår i: Pain. - : Ovid Technologies (Wolters Kluwer Health). - 0304-3959 .- 1872-6623. ; 158:7, s. 1194-1203
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic pain is associated with dysfunctional endogenous pain modulation, involving both central opioid and serotonergic (5-HT) signaling. Fibromyalgia (FM) is a chronic pain syndrome, characterized by widespread musculoskeletal pain and reduced exercise-induced hypoalgesia (EIH). In this study, we assessed the effects of 3 functional genetic polymorphisms on EIH in 130 patients with FM and 132 healthy controls. Subjects were genotyped regarding the mu-opioid receptor (OPRM1) gene (rs1799971), the serotonin transporter (5-HTT) gene (5-HTTLPR/rs25531), and the serotonin-1a receptor (5-HT1a) gene (rs6296). The patients with FM had increased pain sensitivity and reduced EIH compared with healthy controls. None of the polymorphisms had an effect on EIH on their own. We found significant gene-to-gene interactions between OPRM1 x 5-HTT and OPRM1 x 5-HT1a regarding activation of EIH, with no statistically significant difference between groups. Better EIH was found in individuals with genetically inferred strong endogenous opioid signaling (OPRM1 G) in combination with weak 5-HT tone (5-HTT low/5-HT1a G), compared with strong 5-HT tone (5-HTT high/5-HT1a CC). Based on the proposed mechanisms of these genetic variants, the findings indicate antagonistic interactions between opioid and serotonergic mechanisms during EIH. Moreover, despite different baseline pain level, similar results were detected in FM and controls, not supporting an altered interaction between opioid and 5-HT mechanisms as the basis for dysfunction of EIH in patients with FM. In summary, our results suggest that, by genetic association, the mu-opioid receptor interacts with 2 major serotonergic structures involved in 5-HT reuptake and release, to modulate EIH.
  •  
8.
  • Eleftheriou, Nikolas M., et al. (författare)
  • Compound genetically engineered mouse models of cancer reveal dual targeting of ALK1 and endoglin as a synergistic opportunity to impinge on angiogenic TGF-β signaling
  • 2016
  • Ingår i: Oncotarget. - : Impact Journals, LLC. - 1949-2553. ; 7:51, s. 84314-84325
  • Tidskriftsartikel (refereegranskat)abstract
    • Angiogenesis occurs early in tumor development, sustains primary tumor growth and provides a route for metastatic escape. The TGF-β family receptors modulate angiogenesis via endothelial-cell specific pathways. Here we investigate the interaction of two such receptors, ALK1 and endoglin, in pancreatic neuroendocrine tumors (PanNET). Independently, ALK1 and endoglin deficiencies exhibited genetically divergent phenotypes, while both highly correlate to an endothelial metagene in human and mouse PanNETs. A concurrent deficiency of both receptors synergistically decreased tumor burden to a greater extent than either individual knockdown. Furthermore, the knockout of Gdf2 (BMP9), the primary ligand for ALK1 and endoglin, exhibited a mixed phenotype from each of ALK1 and endoglin deficiencies; overall primary tumor burden decreased, but hepatic metastases increased. Tumors lacking BMP9 display a hyperbranching vasculature, and an increase in vascular mesenchymal-marker expression, which may be implicit in the increase in metastases. Taken together, our work cautions against singular blockade of BMP9 and instead demonstrates the utility of dual blockade of ALK1 and endoglin as a strategy for antiangiogenic therapy in PanNET.
  •  
9.
  •  
10.
  • Feng, Chungang, et al. (författare)
  • A cis-Regulatory Mutation of PDSS2 Causes Silky-Feather in Chickens
  • 2014
  • Ingår i: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 10:8, s. e1004576-
  • Tidskriftsartikel (refereegranskat)abstract
    • Silky-feather has been selected and fixed in some breeds due to its unique appearance. This phenotype is caused by a single recessive gene (hookless, h). Here we map the silky-feather locus to chromosome 3 by linkage analysis and subsequently fine-map it to an 18.9 kb interval using the identical by descent (IBD) method. Further analysis reveals that a C to G transversion located upstream of the prenyl (decaprenyl) diphosphate synthase, subunit 2 (PDSS2) gene is causing silky-feather. All silky-feather birds are homozygous for the G allele. The silky-feather mutation significantly decreases the expression of PDSS2 during feather development in vivo. Consistent with the regulatory effect, the C to G transversion is shown to remarkably reduce PDSS2 promoter activity in vitro. We report a new example of feather structure variation associated with a spontaneous mutation and provide new insight into the PDSS2 function.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-10 av 1254
Typ av publikation
tidskriftsartikel (1001)
doktorsavhandling (173)
annan publikation (42)
forskningsöversikt (30)
bokkapitel (5)
rapport (1)
visa fler...
bok (1)
konferensbidrag (1)
visa färre...
Typ av innehåll
refereegranskat (997)
övrigt vetenskapligt/konstnärligt (255)
populärvet., debatt m.m. (1)
Författare/redaktör
Lind, Lars (81)
Lindblad-Toh, Kersti ... (47)
Dahl, Niklas (46)
Wolk, Alicja (45)
Ingelsson, Erik (41)
Gyllensten, Ulf (38)
visa fler...
Ameur, Adam (38)
Johansson, Åsa (37)
Morris, Andrew P. (37)
Syvänen, Ann-Christi ... (36)
Loos, Ruth J F (36)
Ingelsson, Erik, 197 ... (36)
Mahajan, Anubha (33)
Hayward, Caroline (33)
Lindgren, Cecilia M. (32)
Giedraitis, Vilmanta ... (30)
Giles, Graham G (28)
Gustafsson, Stefan (28)
Brenner, Hermann (27)
Rosenquist, Richard (27)
Rotter, Jerome I. (27)
Ingelsson, Martin (26)
Matsson, Hans (26)
Rönnblom, Lars (24)
Feuk, Lars (24)
Harris, Tamara B (24)
Psaty, Bruce M (24)
Chang-Claude, Jenny (23)
Salomaa, Veikko (23)
Kere, Juha (23)
Langenberg, Claudia (23)
Gieger, Christian (23)
Metspalu, Andres (23)
Dumanski, Jan P (23)
Uitterlinden, André ... (23)
Boerwinkle, Eric (23)
Esko, Tõnu (23)
Lu, Yingchang (23)
Raitakari, Olli T (22)
Larsson, Susanna C. (22)
Wareham, Nicholas J. (22)
Zheng, Wei (22)
Brenner, H (21)
Schiöth, Helgi B. (21)
Giles, GG (21)
Haiman, CA (21)
Laakso, Markku (21)
McCarthy, Mark I (21)
Gudnason, Vilmundur (21)
Polasek, Ozren (21)
visa färre...
Lärosäte
Karolinska Institutet (271)
Lunds universitet (97)
Umeå universitet (54)
Göteborgs universitet (47)
Stockholms universitet (23)
visa fler...
Sveriges Lantbruksuniversitet (23)
Linköpings universitet (16)
Kungliga Tekniska Högskolan (15)
Örebro universitet (12)
Högskolan Dalarna (7)
Jönköping University (3)
Luleå tekniska universitet (2)
Södertörns högskola (2)
Chalmers tekniska högskola (2)
Handelshögskolan i Stockholm (1)
Linnéuniversitetet (1)
visa färre...
Språk
Engelska (1253)
Svenska (1)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (1254)
Naturvetenskap (134)
Lantbruksvetenskap (20)
Samhällsvetenskap (9)
Humaniora (5)
Teknik (3)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy