Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: EDN1: 594G>T; Lys198Asn; rs5370
JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.
Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21
Variant appearance in text: EDN1: 594G>T; K198N; rs5370
Models predict change in plasma triglyceride concentrations and long-chain n-3 polyunsaturated fatty acid proportions in healthy participants after fish oil intervention.
Frontiers In Nutrition
Potter, Tilly I T TIT; Horgan, Graham W GW; Wanders, Anne J AJ; Zandstra, Elizabeth H EH; Zock, Peter L PL; Fisk, Helena L HL; Minihane, Anne M AM; Calder, Philip C PC; Mathers, John C JC; de Roos, Baukje B
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Gender differences in genotypic distribution of endothelin-1 gene and endothelin receptor A gene in pulmonary hypertension associated with rheumatic mitral valve disease.
Organic Anion Transporter Gene Variants Associated With Plasma Exposure and Long-Term Response to Atrasentan in Patients With Diabetic Kidney Disease.
Clinical Pharmacology And Therapeutics
Smeijer, J David JD; Koomen, Jeroen V JV; Kohan, Donald E DE; McMurray, John J V JJV; Bakris, George L GL; Correa-Rotter, Ricardo R; Hou, Fan-Fan FF; Kitzman, Dalane W DW; Makino, Hirofumi H; Mayer, Gert G; Nowicki, Michal M; Perkovic, Vlado V; Rossing, Peter P; Tobe, Sheldon S; Parving, Hans-Henrik HH; de Zeeuw, Dick D; Heerspink, Hiddo J L HJL
Coronary Artery Vasospasm Requiring Cardiac Autotransplantation Yet Controlled With Tobacco.
Jacc. Case Reports
Tran, Matthew V MV; Marceau, Eric E; Liu, Yu Y; Sallam, Karim K; Medina, Pedro P; Liu, Chun C; Sayed, Nazish N; Muller, Matthew D MD; Liang, David H DH; Chen, Ian Y IY
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: EDN1: 594G>T; K198N; rs5370
Genetic Variants of ANGPT1, CD39, FGF2 and MMP9 Linked to Clinical Outcome of Bevacizumab Plus Chemotherapy for Metastatic Colorectal Cancer.
International Journal Of Molecular Sciences
Gaibar, María M; Galán, Miguel M; Romero-Lorca, Alicia A; Antón, Beatriz B; Malón, Diego D; Moreno, Amalia A; Fernández-Santander, Ana A; Novillo, Apolonia A
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21
Variant appearance in text: EDN1: 594G>T; K198N; rs5370
Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records.
Bmc Medical Genomics
Veatch, Olivia J OJ; Bauer, Christopher R CR; Keenan, Brendan T BT; Josyula, Navya S NS; Mazzotti, Diego R DR; Bagai, Kanika K; Malow, Beth A BA; Robishaw, Janet D JD; Pack, Allan I AI; Pendergrass, Sarah A SA
Association of +138I/D and Lys198Asn Polymorphisms in the Endothelin-1 Gene with Early Onset of Coronary Artery Disease among the Chinese Han Population.
Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research