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Fletta eftir efnisorði "Mutation"

Fletta eftir efnisorði "Mutation"

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    Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. 
    Jakubowska, A; Rozkrut, D; Antoniou, A; Hamann, U; Scott, R J; McGuffog, L; Healy, S; Sinilnikova, O M; Rennert, G; Lejbkowicz, F; Flugelman, A; Andrulis, I L; Glendon, G; Ozcelik, H; Thomassen, M; Paligo, M; Aretini, P; Kantala, J; Aroer, B; von Wachenfeldt, A; Liljegren, A; Loman, N; Herbst, K; Kristoffersson, U; Rosenquist, R; Karlsson, P; Stenmark-Askmalm, M; Melin, B; Nathanson, K L; Domchek, S M; Byrski, T; Huzarski, T; Gronwald, J; Menkiszak, J; Cybulski, C; Serrano, P; Osorio, A; Cajal, T R; Tsitlaidou, M; Benítez, J; Gilbert, M; Rookus, M; Aalfs, C M; Kluijt, I; Boessenkool-Pape, J L; Meijers-Heijboer, H E J; Oosterwijk, J C; van Asperen, C J; Blok, M J; Nelen, M R; van den Ouweland, A M W; Seynaeve, C; van der Luijt, R B; Devilee, P; Easton, D F; Peock, S; Frost, D; Platte, R; Ellis, S D; Fineberg, E; Evans, D G; Lalloo, F; Eeles, R; Jacobs, C; Adlard, J; Davidson, R; Eccles, D; Cole, T; Cook, J; Godwin, A; Bove, B; Stoppa-Lyonnet, D; Caux-Moncoutier, V; Belotti, M; Tirapo, C; Mazoyer, S; Barjhoux, L; Boutry-Kryza, N; Pujol, P; Coupier, I; Peyrat, J-P; Vennin, P; Muller, D; Fricker, J-P; Venat-Bouvet, L; Jóhannsson, Óskar Þór; Isaacs, C; Schmutzler, R; Wappenschmidt, B; Meindl, A; Arnold, N; Varon-Mateeva, R; Niederacher, D; Sutter, C; Deissler, H; Preisler-Adams, S; Simard, J; Soucy, P; Durocher, F; Chenevix-Trench, G; Beesley, J; Chen, X; Rebbeck, T; Couch, F; Wang, X; Lindor, N; Fredericksen, Z; Pankratz, V S; Peterlongo, P; Bonanni, B; Fortuzzi, S; Peissel, B; Szabo, C; Mai, P L; Loud, J T; Lubinski, J (2012-06-05)
    The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), ...
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    Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017 
    Högnason, Hákon Björn; Stefánsdóttir, Vigdís Fjóla; Þórólfsdóttir, Eirný Þöll; Jónsson, Jón Jóhannes; Björnsson, Hans Tómas (2022-01-04)
    INNGANGUR Formleg erfðaráðgjafareining hefur verið starfrækt á Landspítala við Hringbraut frá árinu 2006. Samhliða hefur áhugi og þörf á erfðalæknisfræði í almennri heilbrigðisþjónustu aukist til muna. Í þessari grein er starfsemi og útkoma erfðarannsókna ...
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    Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores 
    GEMO Study Collaborators; EMBRACE Collaborators; kConFab Investigators; HEBON Investigators; Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (2022-01)
    BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant ...
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    BRN2 is a non-canonical melanoma tumor-suppressor 
    Hamm, Michael; Sohier, Pierre; Petit, Valérie; Raymond, Jérémy H.; Delmas, Véronique; Le Coz, Madeleine; Gesbert, Franck; Kenny, Colin; Aktary, Zackie; Pouteaux, Marie; Rambow, Florian; Sarasin, Alain; Charoenchon, Nisamanee; Bellacosa, Alfonso; Sanchez-del-Campo, Luis; Mosteo, Laura; Lauss, Martin; Meijer, Dies; Steingrímsson, Eiríkur; Jönsson, Göran B.; Cornell, Robert A.; Davidson, Irwin; Goding, Colin R.; Larue, Lionel (2021-06-17)
    While the major drivers of melanoma initiation, including activation of NRAS/BRAF and loss of PTEN or CDKN2A, have been identified, the role of key transcription factors that impose altered transcriptional states in response to deregulated signaling ...
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    Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia 
    Agnarsdóttir, Dagbjört; Sigurjónsdóttir, Vaka Kristín; Emilsdóttir, Arna Rut; Petersen, Erna; Sigfússon, Gunnlaugur; Rögnvaldsson, Ingólfur; Franzson, Leifur; Vernon, Hilary; Björnsson, Hans Tómas (2022-06-16)
    Background: Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. Methods: Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder ...
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    Factor D Inhibition Blocks Complement Activation Induced by Mutant Factor B Associated With Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis 
    Aradottir, Sigridur Sunna; Kristoffersson, Ann Charlotte; Roumenina, Lubka T.; Bjerre, Anna; Kashioulis, Pavlos; Pálsson, Runólfur; Karpman, Diana (2021-06-10)
    Complement factor B (FB) mutant variants are associated with excessive complement activation in kidney diseases such as atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy and membranoproliferative glomerulonephritis (MPGN). Patients with aHUS ...
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    Histopathology and levels of proteins in plasma associate with survival after colorectal cancer diagnosis 
    Magnússon, Magnús Ingvi; Agnarsson, Bjarni Agnar; Jónasson, Jón Gunnlaugur; Tryggvason, Þórður; Aeffner, Famke; le Roux, Louise; Magnusdottir, Droplaug N.; Gunnarsdóttir, Helga Sigrún; Alexíusdóttir, Kristín K.; Gunnarsdottir, Kristbjorg; Söebech, Emilia; Runarsdottir, Hjaltey; Jónsdóttir, Erna María; Kristinsdóttir, Bjarney Sif; Olafsson, Sigurgeir; Knutsdottir, Hildur; Þorsteinsdóttir, Unnur; Úlfarsson, Magnús Örn; Guðbjartsson, Daníel Fannar; Saemundsdottir, Jona; Magnusson, Olafur T.; Norddahl, Gudmundur L.; Watson, J. E.Vivienne; Rafnar, Thorunn; Lund, Sigrún Helga; Stefánsson, Kári (2023-10-19)
    Background: The TNM system is used to assess prognosis after colorectal cancer (CRC) diagnosis. Other prognostic factors reported include histopathological assessments of the tumour, tumour mutations and proteins in the blood. As some of these factors ...
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    Mouse microphthalmia-associated transcription factor (Mitf) mutations affect the structure of the retinal vasculature 
    Daníelsson, Stefán Broddi; García-Llorca, Andrea; Reynisson, Hallur; Eysteinsson, Thor (2022-03-29)
    Purpose: Mice carrying pathogenic variants in the microphthalmia transcription factor (Mitf) gene show structural and functional changes in the retina and retinal pigment epithelium. The purpose of this study was to assess the vascular changes in Mitf ...
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    Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease 
    Helgadottir, Anna; sulem, patrick; Thorgeirsson, Gudmundur; Grétarsdóttir, Sólveig; Thorleifsson, Gudmar; Jensson, Brynjar Örn; Arnadottir, Gudny; Olafsson, Isleifur; Eyjólfsson, Guðmundur I.; Sigurdardottir, Olof; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel; Holm, Hilma; Stefansson, Kari (Oxford University Press (OUP), 2018-03-27)
    Aims Scavenger receptor Class B Type 1 (SR-BI) is a major receptor for high-density lipoprotein (HDL) that promotes hepatic uptake of cholesterol from HDL. A rare mutation p.P376L, in the gene encoding SR-BI, SCARB1, was recently reported to associate ...
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    Veitti mataræði fyrr á öldum vernd gegn arfgengri heilablæðingu í arfberum cystatin L68Q stökkbreytingarinnar? 
    Palsdottir, Astridur; Snorradóttir, Ásbjörg Ósk; Hakonarson, Hakon (2022-12-07)
    Ágrip Arfgeng heilablæðing (hereditary cystatin C amyloid angiopathy, HCCAA) er ríkjandi erfðasjúkdómur sem stafar af stökkbreytingu í cystatin C-geninu, CST3. Stökkbreytt cystatin C safnast upp í smáslagæðum heilans sem mýlildi og veldur síendurteknum ...