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

The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series

17α-羟化酶/17,20-裂解酶 (CYP17A1) 缺乏症的广泛表型谱:一系列病例

Min Sun, Jonathan W Mueller, Lorna C Gilligan, Angela E Taylor, Fozia Shaheen, Anna Noczyńska, Guy T'Sjoen, Louise Denvir, Savitha Shenoy, Piers Fulton, Timothy D Cheetham, Helena Gleeson, Mushtaqur Rahman, Nils P Krone, Norman F Taylor, Cedric H L Shackleton, Wiebke Arlt, Jan Idkowiak4

Dimerization of the Sodium/Iodide Symporter

钠/碘转运体的二聚化

Rebecca J Thompson, Alice Fletcher, Katie Brookes, Hannah Nieto, Mohammed M Alshahrani, Jonathan W Mueller, Nicholas H F Fine, David J Hodson, Kristien Boelaert, Martin L Read, Vicki E Smith, Christopher J McCabe

Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1

人类 DHEA 硫酸化需要 PAPS 合酶 2 与 DHEA 磺基转移酶 SULT2A1 直接相互作用

Jonathan W Mueller, Jan Idkowiak, Tarsis F Gesteira, Cecilia Vallet, Rebecca Hardman, Johannes van den Boom, Vivek Dhir, Shirley K Knauer, Edina Rosta, Wiebke Arlt

PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations

PAPSS2 缺陷通过 DHEA 硫酸化受损导致雄激素过量——对携带两个新型 PAPSS2 突变的家族进行体外和体内研究

Wilma Oostdijk, Jan Idkowiak, Jonathan W Mueller, Philip J House, Angela E Taylor, Michael W O'Reilly, Beverly A Hughes, Martine C de Vries, Sarina G Kant, Gijs W E Santen, Annemieke J M H Verkerk, André G Uitterlinden, Jan M Wit, Monique Losekoot, Wiebke Arlt