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

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome

核因子 I/X (NFIX) 基因移码突变的小鼠模型具有马歇尔-史密斯综合征的表型特征

Kooblall, Kreepa G; Stevenson, Mark; Stewart, Michelle; Harris, Lachlan; Zalucki, Oressia; Dewhurst, Hannah; Butterfield, Natalie; Leng, Houfu; Hough, Tertius A; Ma, Da; Siow, Bernard; Potter, Paul; Cox, Roger D; Brown, Stephen D M; Horwood, Nicole; Wright, Benjamin; Lockstone, Helen; Buck, David; Vincent, Tonia L; Hannan, Fadil M; Bassett, J H Duncan; Williams, Graham R; Lines, Kate E; Piper, Michael; Wells, Sara; Teboul, Lydia; Hennekam, Raoul C; Thakker, Rajesh V

The Thyroid Hormone Transporter MCT10 Is a Novel Regulator of Trabecular Bone Mass and Bone Turnover in Male Mice

甲状腺激素转运蛋白MCT10是雄性小鼠骨小梁质量和骨转换的新型调节因子

Lademann, Franziska; Mayerl, Steffen; Tsourdi, Elena; Verrey, Francois; Leitch, Victoria D; Williams, Graham R; Bassett, J H Duncan; Hofbauer, Lorenz C; Heuer, Heike; Rauner, Martina

Effect of selenium supplementation on musculoskeletal health in older women: a randomised, double-blind, placebo-controlled trial

硒补充剂对老年女性肌肉骨骼健康的影响:一项随机、双盲、安慰剂对照试验

Walsh, Jennifer S; Jacques, Richard M; Schomburg, Lutz; Hill, Tom R; Mathers, John C; Williams, Graham R; Eastell, Richard

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders

单基因低骨量和高骨量疾病的基因发现和新型疗法路线图

Formosa, Melissa M; Bergen, Dylan J M; Gregson, Celia L; Maurizi, Antonio; Kämpe, Anders; Garcia-Giralt, Natalia; Zhou, Wei; Grinberg, Daniel; Ovejero Crespo, Diana; Zillikens, M Carola; Williams, Graham R; Bassett, J H Duncan; Brandi, Maria Luisa; Sangiorgi, Luca; Balcells, Susanna; Högler, Wolfgang; Van Hul, Wim; Mäkitie, Outi

Bone Phenotyping Approaches in Human, Mice and Zebrafish - Expert Overview of the EU Cost Action GEMSTONE ("GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork")

人类、小鼠和斑马鱼的骨骼表型分析方法——欧盟COST行动GEMSTONE(“肌肉骨骼性状基因组学转化网络”)专家概述

Foessl, Ines; Bassett, J H Duncan; Bjørnerem, Åshild; Busse, Björn; Calado, Ângelo; Chavassieux, Pascale; Christou, Maria; Douni, Eleni; Fiedler, Imke A K; Fonseca, João Eurico; Hassler, Eva; Högler, Wolfgang; Kague, Erika; Karasik, David; Khashayar, Patricia; Langdahl, Bente L; Leitch, Victoria D; Lopes, Philippe; Markozannes, Georgios; McGuigan, Fiona E A; Medina-Gomez, Carolina; Ntzani, Evangelia; Oei, Ling; Ohlsson, Claes; Szulc, Pawel; Tobias, Jonathan H; Trajanoska, Katerina; Tuzun, Şansın; Valjevac, Amina; van Rietbergen, Bert; Williams, Graham R; Zekic, Tatjana; Rivadeneira, Fernando; Obermayer-Pietsch, Barbara

An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility

ARHGAP25 变异将 Rac1 功能异常与早发性骨骼脆弱症联系起来

Mäkitie, Riikka E; Henning, Petra; Jiu, Yaming; Kämpe, Anders; Kogan, Konstantin; Costantini, Alice; Välimäki, Ville-Valtteri; Medina-Gomez, Carolina; Pekkinen, Minna; Salusky, Isidro B; Schalin-Jäntti, Camilla; Haanpää, Maria K; Rivadeneira, Fernando; Bassett, John H Duncan; Williams, Graham R; Lerner, Ulf H; Pereira, Renata C; Lappalainen, Pekka; Mäkitie, Outi

IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction

IGSF1 缺乏导致人和小鼠生长激素细胞神经分泌功能亢进

Joustra, Sjoerd D; Roelfsema, Ferdinand; van Trotsenburg, A S Paul; Schneider, Harald J; Kosilek, Robert P; Kroon, Herman M; Logan, John G; Butterfield, Natalie C; Zhou, Xiang; Toufaily, Chirine; Bak, Beata; Turgeon, Marc-Olivier; Brûlé, Emilie; Steyn, Frederik J; Gurnell, Mark; Koulouri, Olympia; Le Tissier, Paul; Fontanaud, Pierre; Duncan Bassett, J H; Williams, Graham R; Oostdijk, Wilma; Wit, Jan M; Pereira, Alberto M; Biermasz, Nienke R; Bernard, Daniel J; Schoenmakers, Nadia

Response to Letter to the Editor: "IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction"

对读者来信的回应:“IGSF1 缺乏导致人类和小鼠生长激素细胞神经分泌功能亢进”

Joustra, Sjoerd D; Roelfsema, Ferdinand; van Trotsenburg, A S Paul; Schneider, Harald J; Kosilek, Robert P; Kroon, Herman M; Logan, John G; Butterfield, Natalie C; Zhou, Xiang; Toufaily, Chirine; Bak, Beata; Turgeon, Marc-Olivier; Brûlé, Emilie; Steyn, Frederik J; Gurnell, Mark; Koulouri, Olympia; Le Tissier, Paul; Fontanaud, Pierre; Bassett, J H Duncan; Williams, Graham R; Oostdijk, Wilma; Wit, Jan M; Pereira, Alberto M; Biermasz, Nienke R; Bernard, Daniel J; Schoenmakers, Nadia

Opportunities and Challenges in Functional Genomics Research in Osteoporosis: Report From a Workshop Held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020

骨质疏松症功能基因组学研究的机遇与挑战:皇家骨质疏松学会骨质疏松症和骨骼研究学院病因工作组于2020年10月5日举办的研讨会报告

Tobias, Jonathan H; Duncan, Emma L; Kague, Erika; Hammond, Chrissy L; Gregson, Celia L; Bassett, Duncan; Williams, Graham R; Min, Josine L; Gaunt, Tom R; Karasik, David; Ohlsson, Claes; Rivadeneira, Fernando; Edwards, James R; Hannan, Fadil M; Kemp, John P; Gilbert, Sophie J; Alonso, Nerea; Hassan, Neelam; Compston, Juliet E; Ralston, Stuart H

Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density

大规模小鼠突变表型分析揭示了控制骨矿物质密度的新基因

Swan, Anna L; Schütt, Christine; Rozman, Jan; Del Mar Muñiz Moreno, Maria; Brandmaier, Stefan; Simon, Michelle; Leuchtenberger, Stefanie; Griffiths, Mark; Brommage, Robert; Keskivali-Bond, Piia; Grallert, Harald; Werner, Thomas; Teperino, Raffaele; Becker, Lore; Miller, Gregor; Moshiri, Ala; Seavitt, John R; Cissell, Derek D; Meehan, Terrence F; Acar, Elif F; Lelliott, Christopher J; Flenniken, Ann M; Champy, Marie-France; Sorg, Tania; Ayadi, Abdel; Braun, Robert E; Cater, Heather; Dickinson, Mary E; Flicek, Paul; Gallegos, Juan; Ghirardello, Elena J; Heaney, Jason D; Jacquot, Sylvie; Lally, Connor; Logan, John G; Teboul, Lydia; Mason, Jeremy; Spielmann, Nadine; McKerlie, Colin; Murray, Stephen A; Nutter, Lauryl M J; Odfalk, Kristian F; Parkinson, Helen; Prochazka, Jan; Reynolds, Corey L; Selloum, Mohammed; Spoutil, Frantisek; Svenson, Karen L; Vales, Taylor S; Wells, Sara E; White, Jacqueline K; Sedlacek, Radislav; Wurst, Wolfgang; Lloyd, K C Kent; Croucher, Peter I; Fuchs, Helmut; Williams, Graham R; Bassett, J H Duncan; Gailus-Durner, Valerie; Herault, Yann; Mallon, Ann-Marie; Brown, Steve D M; Mayer-Kuckuk, Philipp; Hrabe de Angelis, Martin