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

Pathologic grooming (acne excoriee, trichotillomania, and nail biting) in 4 generations of a single family

一个家族四代人均有病理性梳理行为(痤疮性皮肤剥脱症、拔毛癖和咬指甲)

Khumalo, Nonhlanhla P; Shaboodien, Gasnat; Hemmings, Sian M J; Moolman-Smook, Johanna C; Stein, Dan J

Ascribing novel functions to the sarcomeric protein, myosin binding protein H (MyBPH) in cardiac sarcomere contraction

肌球蛋白结合蛋白 H (MyBPH) 在心脏肌节收缩中具有新功能

Jomien Mouton, Ben Loos, Johanna C Moolman-Smook, Craig J Kinnear

Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy

南非限制性心肌病和局灶性心室肥厚患者的诊断差异及两种TNNI3基因突变的鉴定,其中一种是新发突变,另一种是新出现的突变

Mouton, Jomien M; Pellizzon, Adriano S; Goosen, Althea; Kinnear, Craig J; Herbst, Philip G; Brink, Paul A; Moolman-Smook, Johanna C

The RBBP6/ZBTB38/MCM10 axis regulates DNA replication and common fragile site stability

RBBP6/ZBTB38/MCM10 轴调节 DNA 复制和常见脆性位点稳定性

Benoit Miotto, Moredreck Chibi, Ping Xie, Stéphane Koundrioukoff, Hanlie Moolman-Smook, David Pugh, Michelle Debatisse, Fuchu He, Lingqiang Zhang, Pierre-Antoine Defossez

Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C

肌巨蛋白是一种新型的 A-激酶锚定蛋白,参与心脏肌球蛋白结合蛋白 C 的磷酸化

Gerrida M Uys, Amsha Ramburan, Benjamin Loos, Craig J Kinnear, Lundi J Korkie, Jomien Mouton, Johann Riedemann, Johanna C Moolman-Smook

Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations

与肌球蛋白突变患者相比,携带 R92W 肌钙蛋白 T 突变的肥厚型心肌病患者运动时出现异常血压反应的发生率更高。

Heradien, Marshall; Revera, Miriam; van der Merwe, Lize; Goosen, Althea; Corfield, Valerie A; Brink, Paul A; Mayosi, Bongani M; Moolman-Smook, Johanna C