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

Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism

TPO功能域定位:来自苏丹先天性甲状腺功能减退症家族中6个变异体的启示

Islam, Mohammad S; Louzada, Ruy A; Bouviere, Jessica; Ahmed, Amna E; Bernal-Mizrachi, Ernesto; Dumitrescu, Alexandra M; Refetoff, Samuel; Weiss, Roy E

Measuring deiodinase activity: a need for standardization?

测定脱碘酶活性:是否需要标准化?

Wiersema, Joëlle; Mohácsik, Petra; Gereben, Balázs; Hernandez, Arturo; Leeuwenburgh, Selmar; Meima, Marcel; Visser, W Edward; Refetoff, Samuel; Bianco, Antonio; Salas-Lucia, Federico; Boelen, Anita

THRB splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndrome

THRB剪接位点变异导致外显子4跳跃和TRβ1功能获得综合征

Singh, Deepak K; Zhou, Hongwei; Sherpa, Nyima; Zheng, Xiang Yu; Lomakin, Artem; Razghandi, Pedram; Hunag, Xin; Kadamb, Rama; Shukla, Suryansh; Valencia Salazar, Luis E; Entenberg, David; Zheng, Deyou; Curtis, Christina; Wang, Jianlong; Aguirre-Ghiso, Julio A; Hönes, Georg Sebastian; Liao, Xiao-Hui; Mahler, Elisa Annabelle; Herrmann, Philipp; Eckstein, Anja; Führer, Dagmar; Castillo, Jesus Moreno; Chiang, John; Vincent, Andrea Louise; Weiss, Roy E; Dumitrescu, Alexandra Mihaela; Refetoff, Samuel; Moeller, Lars Christian

Stimulated thyroid hormone synthesis machinery drives thyrocyte cell death independent of ER stress.

甲状腺激素合成机制受到刺激后,甲状腺细胞死亡,而与内质网应激无关。

Young Crystal, Zhang Xiaohan, Wang Xiaofan, Kellogg Aaron P, Pena Kevin, Cumming August Z, Liao Xiao-Hui, Larkin Dennis, Zhang Hao, Mastroianni Emma, Grasberger Helmut, Refetoff Samuel, Arvan Peter

Thyroidal expression of ER molecular chaperone GRP170 is required for efficient TSH-mediated thyroid hormone synthesis.

甲状腺中 ER 分子伴侣 GRP170 的表达是 TSH 介导的甲状腺激素有效合成所必需的。

Zhang Xiaohan, Young Crystal, Liao Xiao-Hui, Refetoff Samuel, Mutchler Stephanie M, Brodsky Jeffrey L, Buck Teresa M, Arvan Peter

A Genetically-Engineered Thyroid Gland Built for Selective Triiodothyronine Secretion.

一种经过基因工程改造的甲状腺,旨在选择性分泌三碘甲状腺素

Citterio Cintia E, Morales-Rodriguez Berenice, Liao Xiao-Hui, Vu Catherine, Nguyen Rachel, Tsai Jessie, Le Jennifer, Metawea Ibrahim, Liu Ming, Olson David P, Refetoff Samuel, Arvan Peter

Reply to the letter by Dr Karlsson 'Rationale behind the European Thyroid Association 2024 Guideline to treat the Allan-Herndon-Dudley syndrome with tiratricol?'

回复卡尔森博士的来信“欧洲甲状腺协会 2024 年指南中关于使用替拉曲考治疗 Allan-Herndon-Dudley 综合征的理由是什么?”

Persani, Luca; Rodien, Patrice; Moran, Carla; Visser, W Edward; Groeneweg, Stefan; Peeters, Robin; Refetoff, Samuel; Gurnell, Mark; Beck-Peccoz, Paolo; Chatterjee, Krishna

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism

苏丹先天性甲状腺功能减退症家族中pendrin缺陷的患病率

Islam, Mohammad S; Dumitrescu, Alexandra M; Ahmed, Amna; Refetoff, Samuel; Weiss, Roy E

Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients

左甲状腺素和丙硫氧嘧啶联合治疗单羧酸转运蛋白8缺乏症患儿:一项包含12例患者的多中心病例系列研究

Weiss, Roy E; Lemos, Joana R N; Dumitrescu, Alexandra M; Islam, Mohammad S; Hirani, Khemraj; Refetoff, Samuel

2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action

2024年欧洲甲状腺协会关于甲状腺激素转运、代谢和作用遗传性疾病的诊断和治疗指南

Persani, Luca; Rodien, Patrice; Moran, Carla; Visser, W Edward; Groeneweg, Stefan; Peeters, Robin; Refetoff, Samuel; Gurnell, Mark; Beck-Peccoz, Paolo; Chatterjee, Krishna