日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland

一种新型的HNF1A剪接影响变异体,对格陵兰岛糖尿病人群造成重大影响

Thuesen, Anne Cathrine Baun; Stæger, Frederik Filip; Kaci, Alba; Solheim, Marie Holm; Aukrust, Ingvild; Jørsboe, Emil; Santander, Cindy G; Andersen, Mette K; Li, Zilong; Gilly, Arthur; Stinson, Sara Elizabeth; Gjesing, Anette Prior; Bjerregaard, Peter; Pedersen, Michael Lynge; Larsen, Christina Viskum Lytken; Grarup, Niels; Jørgensen, Marit E; Zeggini, Eleftheria; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Albrechtsen, Anders; Moltke, Ida; Hansen, Torben

Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment

在常见2型糖尿病患者中鉴定出致病性GCK变异体可能导致停止药物治疗。

Thuesen, Anne Cathrine Baun; Jensen, Rasmus Tanderup; Maagensen, Henrik; Kristiansen, Maja Refshauge; Sørensen, Henrik Toft; Vaag, Allan; Beck-Nielsen, Henning; Pedersen, Oluf B; Grarup, Niels; Nielsen, Jens Steen; Rungby, Jørgen; Gjesing, Anette Prior; Storgaard, Heidi; Vilsbøll, Tina; Hansen, Torben

Increased frequency of rare missense PPP1R3B variants among Danish patients with type 2 diabetes

丹麦2型糖尿病患者中罕见错义PPP1R3B变异的频率增加

Niazi, Robina Khan; Sun, Jihua; Have, Christian Theil; Hollensted, Mette; Linneberg, Allan; Pedersen, Oluf; Nielsen, Jens Steen; Rungby, Jørgen; Grarup, Niels; Hansen, Torben; Gjesing, Anette Prior

Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report

对23名巴基斯坦早发性儿童肥胖症先证者进行31个与单基因肥胖症相关的基因筛查:病例报告

Niazi, Robina Khan; Gjesing, Anette Prior; Hollensted, Mette; Have, Christian Theil; Borisevich, Dmitrii; Grarup, Niels; Pedersen, Oluf; Ullah, Asmat; Shahid, Gulbin; Shafqat, Ifrah; Gul, Asma; Hansen, Torben

Common variants in the hERG (KCNH2) voltage-gated potassium channel are associated with altered fasting and glucose-stimulated plasma incretin and glucagon responses

hERG (KCNH2) 电压门控钾通道的常见变异与空腹和葡萄糖刺激的血浆肠促胰岛素和胰高血糖素反应的改变有关。

Engelbrechtsen, Line; Mahendran, Yuvaraj; Jonsson, Anna; Gjesing, Anette Prior; Weeke, Peter E; Jørgensen, Marit E; Færch, Kristine; Witte, Daniel R; Holst, Jens J; Jørgensen, Torben; Grarup, Niels; Pedersen, Oluf; Vestergaard, Henrik; Torekov, Signe; Kanters, Jørgen K; Hansen, Torben

Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study

遗传学视角揭示胎儿生长与成年期血糖调节和脂肪堆积的关系:一项基于家庭的研究

Hollensted, Mette; Ekstrøm, Claus T; Pedersen, Oluf; Eiberg, Hans; Hansen, Torben; Gjesing, Anette Prior

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

人类双等位基因 MFN2 突变可诱发线粒体功能障碍、上身脂肪增生和瘦素表达抑制

Nuno Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John Crawford, Anette Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, A

Genetic Variations in the Human G Protein-coupled Receptor Class C, Group 6, Member A (GPRC6A) Control Cell Surface Expression and Function

人类 G 蛋白偶联受体 C 类、第 6 组、成员 A (GPRC6A) 的遗传变异控制细胞表面表达和功能

Stine Jørgensen, Christian Theil Have, Christina Rye Underwood, Lars Dan Johansen, Petrine Wellendorph, Anette Prior Gjesing, Christinna V Jørgensen, Shi Quan, Gao Rui, Asuka Inoue, Allan Linneberg, Niels Grarup, Wang Jun, Oluf Pedersen, Torben Hansen, Hans Bräuner-Osborne

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

对多种人体测量特征进行主成分荟萃分析,可识别出与体型相关的新基因位点。

Ried, Janina S; Jeff M, Janina; Chu, Audrey Y; Bragg-Gresham, Jennifer L; van Dongen, Jenny; Huffman, Jennifer E; Ahluwalia, Tarunveer S; Cadby, Gemma; Eklund, Niina; Eriksson, Joel; Esko, Tõnu; Feitosa, Mary F; Goel, Anuj; Gorski, Mathias; Hayward, Caroline; Heard-Costa, Nancy L; Jackson, Anne U; Jokinen, Eero; Kanoni, Stavroula; Kristiansson, Kati; Kutalik, Zoltán; Lahti, Jari; Luan, Jian'an; Mägi, Reedik; Mahajan, Anubha; Mangino, Massimo; Medina-Gomez, Carolina; Monda, Keri L; Nolte, Ilja M; Pérusse, Louis; Prokopenko, Inga; Qi, Lu; Rose, Lynda M; Salvi, Erika; Smith, Megan T; Snieder, Harold; Stančáková, Alena; Ju Sung, Yun; Tachmazidou, Ioanna; Teumer, Alexander; Thorleifsson, Gudmar; van der Harst, Pim; Walker, Ryan W; Wang, Sophie R; Wild, Sarah H; Willems, Sara M; Wong, Andrew; Zhang, Weihua; Albrecht, Eva; Couto Alves, Alexessander; Bakker, Stephan J L; Barlassina, Cristina; Bartz, Traci M; Beilby, John; Bellis, Claire; Bergman, Richard N; Bergmann, Sven; Blangero, John; Blüher, Matthias; Boerwinkle, Eric; Bonnycastle, Lori L; Bornstein, Stefan R; Bruinenberg, Marcel; Campbell, Harry; Chen, Yii-Der Ida; Chiang, Charleston W K; Chines, Peter S; Collins, Francis S; Cucca, Fracensco; Cupples, L Adrienne; D'Avila, Francesca; de Geus, Eco J C; Dedoussis, George; Dimitriou, Maria; Döring, Angela; Eriksson, Johan G; Farmaki, Aliki-Eleni; Farrall, Martin; Ferreira, Teresa; Fischer, Krista; Forouhi, Nita G; Friedrich, Nele; Gjesing, Anette Prior; Glorioso, Nicola; Graff, Mariaelisa; Grallert, Harald; Grarup, Niels; Gräßler, Jürgen; Grewal, Jagvir; Hamsten, Anders; Harder, Marie Neergaard; Hartman, Catharina A; Hassinen, Maija; Hastie, Nicholas; Hattersley, Andrew Tym; Havulinna, Aki S; Heliövaara, Markku; Hillege, Hans; Hofman, Albert; Holmen, Oddgeir; Homuth, Georg; Hottenga, Jouke-Jan; Hui, Jennie; Husemoen, Lise Lotte; Hysi, Pirro G; Isaacs, Aaron; Ittermann, Till; Jalilzadeh, Shapour; James, Alan L; Jørgensen, Torben; Jousilahti, Pekka; Jula, Antti; Marie Justesen, Johanne; Justice, Anne E; Kähönen, Mika; Karaleftheri, Maria; Tee Khaw, Kay; Keinanen-Kiukaanniemi, Sirkka M; Kinnunen, Leena; Knekt, Paul B; Koistinen, Heikki A; Kolcic, Ivana; Kooner, Ishminder K; Koskinen, Seppo; Kovacs, Peter; Kyriakou, Theodosios; Laitinen, Tomi; Langenberg, Claudia; Lewin, Alexandra M; Lichtner, Peter; Lindgren, Cecilia M; Lindström, Jaana; Linneberg, Allan; Lorbeer, Roberto; Lorentzon, Mattias; Luben, Robert; Lyssenko, Valeriya; Männistö, Satu; Manunta, Paolo; Leach, Irene Mateo; McArdle, Wendy L; Mcknight, Barbara; Mohlke, Karen L; Mihailov, Evelin; Milani, Lili; Mills, Rebecca; Montasser, May E; Morris, Andrew P; Müller, Gabriele; Musk, Arthur W; Narisu, Narisu; Ong, Ken K; Oostra, Ben A; Osmond, Clive; Palotie, Aarno; Pankow, James S; Paternoster, Lavinia; Penninx, Brenda W; Pichler, Irene; Pilia, Maria G; Polašek, Ozren; Pramstaller, Peter P; Raitakari, Olli T; Rankinen, Tuomo; Rao, D C; Rayner, Nigel W; Ribel-Madsen, Rasmus; Rice, Treva K; Richards, Marcus; Ridker, Paul M; Rivadeneira, Fernando; Ryan, Kathy A; Sanna, Serena; Sarzynski, Mark A; Scholtens, Salome; Scott, Robert A; Sebert, Sylvain; Southam, Lorraine; Sparsø, Thomas Hempel; Steinthorsdottir, Valgerdur; Stirrups, Kathleen; Stolk, Ronald P; Strauch, Konstantin; Stringham, Heather M; Swertz, Morris A; Swift, Amy J; Tönjes, Anke; Tsafantakis, Emmanouil; van der Most, Peter J; Van Vliet-Ostaptchouk, Jana V; Vandenput, Liesbeth; Vartiainen, Erkki; Venturini, Cristina; Verweij, Niek; Viikari, Jorma S; Vitart, Veronique; Vohl, Marie-Claude; Vonk, Judith M; Waeber, Gérard; Widén, Elisabeth; Willemsen, Gonneke; Wilsgaard, Tom; Winkler, Thomas W; Wright, Alan F; Yerges-Armstrong, Laura M; Hua Zhao, Jing; Zillikens, M Carola; Boomsma, Dorret I; Bouchard, Claude; Chambers, John C; Chasman, Daniel I; Cusi, Daniele; Gansevoort, Ron T; Gieger, Christian; Hansen, Torben; Hicks, Andrew A; Hu, Frank; Hveem, Kristian; Jarvelin, Marjo-Riitta; Kajantie, Eero; Kooner, Jaspal S; Kuh, Diana; Kuusisto, Johanna; Laakso, Markku; Lakka, Timo A; Lehtimäki, Terho; Metspalu, Andres; Njølstad, Inger; Ohlsson, Claes; Oldehinkel, Albertine J; Palmer, Lyle J; Pedersen, Oluf; Perola, Markus; Peters, Annette; Psaty, Bruce M; Puolijoki, Hannu; Rauramaa, Rainer; Rudan, Igor; Salomaa, Veikko; Schwarz, Peter E H; Shudiner, Alan R; Smit, Jan H; Sørensen, Thorkild I A; Spector, Timothy D; Stefansson, Kari; Stumvoll, Michael; Tremblay, Angelo; Tuomilehto, Jaakko; Uitterlinden, André G; Uusitupa, Matti; Völker, Uwe; Vollenweider, Peter; Wareham, Nicholas J; Watkins, Hugh; Wilson, James F; Zeggini, Eleftheria; Abecasis, Goncalo R; Boehnke, Michael; Borecki, Ingrid B; Deloukas, Panos; van Duijn, Cornelia M; Fox, Caroline; Groop, Leif C; Heid, Iris M; Hunter, David J; Kaplan, Robert C; McCarthy, Mark I; North, Kari E; O'Connell, Jeffrey R; Schlessinger, David; Thorsteinsdottir, Unnur; Strachan, David P; Frayling, Timothy; Hirschhorn, Joel N; Müller-Nurasyid, Martina; Loos, Ruth J F

DNA methylation and gene expression of HIF3A: cross-tissue validation and associations with BMI and insulin resistance

HIF3A的DNA甲基化和基因表达:跨组织验证及其与BMI和胰岛素抵抗的关联

Main, Ailsa Maria; Gillberg, Linn; Jacobsen, Anna Louisa; Nilsson, Emma; Gjesing, Anette Prior; Hansen, Torben; Pedersen, Oluf; Ribel-Madsen, Rasmus; Vaag, Allan