Association of Genetic and Allelic Variants of Von Willebrand Factor (VWF), Glutathione S-Transferase and Tumor Necrosis Factor Alpha with Ischemic Stroke Susceptibility and Progression in the Saudi Population.
Life (Basel, Switzerland)
Jalal, Mohammed M MM; Mir, Rashid R; Hamadi, Abdullah A; Altayar, Malik A MA; Elfaki, Imadeldin I; Barnawi, Jameel J; Alkayyal, Almohanad A AA; Amr, Mouminah M; Hadeel, Jabali J; Moawadh, Mamdoh S MS; Alsaedi, Basim S O BSO; Alhelali, Marwan H MH; Yousif, Aadil A
Publication Date: 2023-05-17
Variant appearance in text: VWF: 3445T>C; C1149R; rs61748511
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: VWF: 3445T>C; Cys1149Arg
Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.
Blood Advances
Atiq, Ferdows F; Heijdra, Jessica J; Snijders, Fleur F; Boender, Johan J; Kempers, Eva E; van Heerde, Waander L WL; Maas, Dominique P M S M DPMSM; Krouwel, Sandy S; Schoormans, Selene C SC; de Meris, Joke J; Schols, Saskia E M SEM; van Galen, Karin P M KPM; van der Bom, Johanna G JG; Cnossen, Marjon H MH; Meijer, Karina K; Fijnvandraat, Karin K; Eikenboom, Jeroen J; Leebeek, Frank W G FWG
Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.
Blood Advances
Rawley, Orla O; Swystun, Laura L LL; Brown, Christine C; Nesbitt, Kate K; Rand, Margaret M; Hossain, Taneya T; Klaassen, Robert R; James, Paula D PD; Carcao, Manuel D MD; Lillicrap, David D
Quantitative 3D microscopy highlights altered von Willebrand factor α-granule storage in patients with von Willebrand disease with distinct pathogenic mechanisms.
Research And Practice In Thrombosis And Haemostasis
Swinkels, Maurice M; Atiq, Ferdows F; Bürgisser, Petra E PE; Slotman, Johan A JA; Houtsmuller, Adriaan B AB; de Heus, Cilia C; Klumperman, Judith J; Leebeek, Frank W G FWG; Voorberg, Jan J; Jansen, Arend Jan Gerard AJG; Bierings, Ruben R
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Haematologica
Borràs, Nina N; Batlle, Javier J; Pérez-Rodríguez, Almudena A; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Balda, Ignacia I; Altisent, Carme C; Pérez-Montes, Rocío R; Fisac, Rosa María RM; Iruín, Gemma G; Herrero, Sonia S; Soto, Inmaculada I; de Rueda, Beatriz B; Jiménez-Yuste, Víctor V; Alonso, Nieves N; Vilariño, Dolores D; Arija, Olga O; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Sarmiento, Lizheidy L; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; César, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Cornudella, Rosa R; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I
Publication Date: 2017-12
Variant appearance in text: VWF: 3445T>C; Cys1149Arg
Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.
Haematologica
Wang, Jiong-Wei JW; Groeneveld, Dafna J DJ; Cosemans, Guy G; Dirven, Richard J RJ; Valentijn, Karine M KM; Voorberg, Jan J; Reitsma, Pieter H PH; Eikenboom, Jeroen J
Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease.
The Journal Of Biological Chemistry
Wang, Jiong-Wei JW; Valentijn, Karine M KM; de Boer, Hetty C HC; Dirven, Richard J RJ; van Zonneveld, Anton Jan AJ; Koster, Abraham J AJ; Voorberg, Jan J; Reitsma, Pieter H PH; Eikenboom, Jeroen J
Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.
Blood
Haberichter, Sandra L SL; Balistreri, Michael M; Christopherson, Pamela P; Morateck, Patricia P; Gavazova, Stefana S; Bellissimo, Daniel B DB; Manco-Johnson, Marilyn J MJ; Gill, Joan Cox JC; Montgomery, Robert R RR