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

Ferredoxin 1b (Fdx1b) Is the Essential Mitochondrial Redox Partner for Cortisol Biosynthesis in Zebrafish

铁氧还蛋白1b (Fdx1b) 是斑马鱼皮质醇生物合成所必需的线粒体氧化还原伴侣

Griffin, Aliesha; Parajes, Silvia; Weger, Meltem; Zaucker, Andreas; Taylor, Angela E; O'Neil, Donna M; Müller, Ferenc; Krone, Nils

5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes

5α-还原酶2型调节人肝细胞中的糖皮质激素作用和代谢表型

Nasiri, Maryam; Nikolaou, Nikolaos; Parajes, Silvia; Krone, Nils P; Valsamakis, George; Mastorakos, George; Hughes, Beverly; Taylor, Angela; Bujalska, Iwona J; Gathercole, Laura L; Tomlinson, Jeremy W

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort

153例21-羟化酶缺乏引起的先天性肾上腺皮质增生症成年患者的基因型-表型相关性:英国先天性肾上腺皮质增生症成人研究执行组(CaHASE)队列分析

Krone, Nils; Rose, Ian T; Willis, Debbie S; Hodson, James; Wild, Sarah H; Doherty, Emma J; Hahner, Stefanie; Parajes, Silvia; Stimson, Roland H; Han, Thang S; Carroll, Paul V; Conway, Gerry S; Walker, Brian R; MacDonald, Fiona; Ross, Richard J; Arlt, Wiebke

Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)

一名患有严重阴茎阴囊型尿道下裂的患者,由于两种新的 P450 侧向变化裂解酶 (CYP11A1) 突变 (p.R360W; p.R405X),导致肾上腺功能不全的诊断延迟。

Parajes, Silvia; Chan, Angel O K; But, W M; Rose, Ian T; Taylor, Angela E; Dhir, Vivek; Arlt, Wiebke; Krone, Nils

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency

CYP11B1基因中七个新突变的功能后果:四个突变与非经典型11β-羟化酶缺乏症相关,三个突变导致经典型11β-羟化酶缺乏症。

Parajes, Silvia; Loidi, Lourdes; Reisch, Nicole; Dhir, Vivek; Rose, Ian T; Hampel, Rainer; Quinkler, Marcus; Conway, Gerard S; Castro-Feijóo, Lidia; Araujo-Vilar, David; Pombo, Manuel; Dominguez, Fernando; Williams, Emma L; Cole, Trevor R; Kirk, Jeremy M; Kaminsky, Elke; Rumsby, Gill; Arlt, Wiebke; Krone, Nils

Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant

对铁调素基因(HAMP)启动子的遗传学研究及c.-582A>G变异体的功能分析

Parajes, Silvia; González-Quintela, Arturo; Campos, Joaquín; Quinteiro, Celsa; Domínguez, Fernando; Loidi, Lourdes