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

Long-acting parathyroid hormone receptor agonist rectifies hypocalcemia in autosomal dominant hypocalcemia type 1 mice

长效甲状旁腺激素受体激动剂可纠正常染色体显性低钙血症1型小鼠的低钙血症。

Hannan, Fadil M; Stevenson, Mark; Elajnaf, Taha; Rostom, Hussam; Lines, Kate E; Stewart, Michelle; Wells, Sara; Moir, Lee; Gardella, Thomas J; Thakker, Rajesh V

Genetic variants predisposing to an increased risk of kidney stone disease.

导致肾结石疾病风险增加的基因变异

Lovegrove Catherine E, Goldsworthy Michelle, Haley Jeremy, Smelser Diane, Gorvin Caroline, Hannan Fadil M, Mahajan Anubha, Suri Mohnish, Sadeghi-Alavijeh Omid, Moochhala Shabbir H, Gale Daniel P, Carey David, Holmes Michael V, Furniss Dominic, Thakker Rajesh V, Howles Sarah A

Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1)

喹唑啉酮钙溶解疗法治疗常染色体显性低钙血症1型(ADH1)的特征分析

Hannan, Fadil M; Kooblall, Kreepa G; Stevenson, Mark; Elajnaf, Taha; Liu, Fangyu; Lines, Kate E; Meng, Xin; Stewart, Michelle; Wells, Sara; Nemeth, Edward F; Shoichet, Brian K; Kneissel, Michaela; Gasser, Juerg A; Thakker, Rajesh V

Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures

基于基因的关联分析对大量患者队列进行研究,揭示了非典型股骨骨折的遗传学机制。

Zhou, Wei; Ås, Joel; Shore-Lorenti, Catherine; Nguyen, Hanh H; van de Laarschot, Denise M; Sztal-Mazer, Shoshana; Grill, Vivian; Girgis, Christian M; Stricker, Bruno H Ch; van der Eerden, Bram C J; Thakker, Rajesh V; Appelman-Dijkstra, Natasha M; Wadelius, Mia; Clifton-Bligh, Roderick J; Hallberg, Pär; Verkerk, Annemieke J M H; van Rooij, Jeroen G J; Ebeling, Peter R; Zillikens, M Carola

Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures

基于家族的全外显子组测序表明,赖氨酰氧化酶样4基因的变异与非典型股骨骨折有关。

Zhou, Wei; van de Laarschot, Denise M; van Rooij, Jeroen G J; Koedam, Marijke; Nguyen, Hanh H; Uitterlinden, André G; Ebeling, Peter R; Thakker, Rajesh V; Geusens, Piet; van der Eerden, Bram C J; Verkerk, Annemieke J M H; Zillikens, M Carola

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification

GNAQ/GNA11嵌合体与血清钙指标异常和微血管神经钙化相关

Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; Heales, Simon; Krywawych, Steve; López-Balboa, Pablo; Muwanga-Nanyonjo, Noreen; Ogunbiyi, Olumide; Puvirajasinghe, Clinda; Solman, Lea; Swarbrick, Katherine; Syed, Samira B; Tahir, Zubair; Tisdall, Martin M; Allgrove, Jeremy; Chesover, Alexander D; Aylett, Sarah E; Jacques, Thomas S; Hannan, Fadil M; Löbel, Ulrike; Semple, Robert K; Thakker, Rajesh V; Kinsler, Veronica A

Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes

细胞视黄酸结合蛋白2 (CRABP2) 被鉴定为核因子I/X (NFIX) 的下游靶点:对骨骼发育不良综合征的意义

Kooblall, Kreepa G; Stevenson, Mark; Heilig, Raphael; Stewart, Michelle; Wright, Benjamin; Lockstone, Helen; Buck, David; Fischer, Roman; Wells, Sara; Lines, Kate E; Teboul, Lydia; Hennekam, Raoul C; Thakker, Rajesh V

NET Models Meeting 2024 white paper: the current state of neuroendocrine tumour research models and our future aspirations

2024年NET模型会议白皮书:神经内分泌肿瘤研究模型的现状及未来展望

Ear, Po Hien; Marinoni, Ilaria; Dayton, Talya; Guenter, Rachael; Quelle, Dawn E; Battistella, Anna; Buishand, Floryne O; Chittaranjan, Suganthi; Nancy Du, Yi-Cheih; Marques, Ines; Pellegata, Natalia S; Sadowski, Samira M; Tirosh, Amit; April-Monn, Simon; Aurilia, Cinzia; Jaskula-Sztul, Renata; Baena Moreno, Maria Jesús; Donati, Simone; English, Katherine A; Hernandez Llorens, Maria Almudena; Hodgetts, Harry; Marini, Francesca; Martins, Maria; Palmini, Gaia; Soldevilla, Beatriz; Schrader, Jörg; Thakker, Rajesh V; Lines, Kate E

Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations

中心性肥胖通过影响血清钙浓度增加肾结石风险

Lovegrove, Catherine E; Bešević, Jelena; Wiberg, Akira; Lacey, Ben; Littlejohns, Thomas J; Allen, Naomi E; Goldsworthy, Michelle; Kim, Jihye; Hannan, Fadil M; Curhan, Gary C; Turney, Ben W; McCarthy, Mark I; Mahajan, Anubha; Thakker, Rajesh V; Holmes, Michael V; Furniss, Dominic; Howles, Sarah A

FRI266 Medical Management Of Cushing’s Syndrome Caused By Primary Bilateral Macronodular Adrenal Hyperplasia (PBMA) With Low Dose Of Ketoconazole

FRI266 低剂量酮康唑治疗原发性双侧大结节性肾上腺增生(PBMA)引起的库欣综合征

Celio, Luigi; Cortinovis, Diego; Cogoni, Alessio Aligi; Cavanna, Luigi; Martelli, Olga; Carnio, Simona; Collovà, Elena; Bertolini, Federica; Petrelli, Fausto; Cassano, Alessandra; Chiari, Rita; Zanelli, Francesca; Pisconti, Salvatore; Vittimberga, Isabella; Letizia, Antonietta; Misino, Andrea; Gernone, Angela; Bonizzoni, Erminio; Pilotto, Sara; De Placido, Sabino; Bria, Emilio; Sonmez Ince, Melda; Hannan, Fadil; Helen Esfandiari, Nazanene; Hussain, Mehboob A; Haymart, Megan R; Thakker, Rajesh V; Clines, Gregory A; Hatfield, Jennifer S; Godar, Cassandra M; Vietor, Nicole O; Hoang, Thanh D; Shakir, Mohamed K M