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

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis

使用患者来源的细胞模型来表征孤立性肾痨患者的复合杂合低等位基因 C2CD3 变异

Zachary T Sentell, Lina Mougharbel, Zachary W Nurcombe, Sima Babayeva, Marc Henein, Lee Lee Chu, Murielle M Akpa, Chen-Fang Chung, Jean-Baptiste Rivière, Mihaela Pupavac, Rui Li, David S Rosenblatt, Jacek Majewski, Paul R Goodyer, Elena Torban, Thomas M Kitzler

Assessment of health risks associated with heavy metal concentration in seafood from North-Western Croatia

克罗地亚西北部海产品中重金属浓度相关的健康风险评估

Traven, Luka; Marinac-Pupavac, Sandra; Žurga, Paula; Linšak, Željko; Pavičić Žeželj, Sandra; Glad, Marin; Vukić Lušić, Darija

Arsenic (As), copper (Cu), zinc (Zn) and selenium (Se) in northwest Croatian seafood: A health risks assessment

克罗地亚西北部海产品中砷(As)、铜(Cu)、锌(Zn)和硒(Se)的含量:健康风险评估

Traven, Luka; Marinac-Pupavac, Sandra; Žurga, Paula; Linšak, Željko; Žeželj, Sandra Pavičić; Glad, Marin; Linšak, Dijana Tomić; Cenov, Arijana

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

Epi-cblC 遗传性维生素 B12 细胞内代谢障碍中的 TESK2 和 MMACHC 启动子表观突变

Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, Céline Chéry, Pierre Rouyer, Catia Cavicchi, Renzo Guerrini, Pierre-Emmanuel Morange, David Trégouët, Mihaela Pupavac, David Watkins, Tomi Pastinen, Wendy K Chung, Can Ficicioglu, François Feillet, D Sean Froese, Matthias R Baumgartner, Jean

Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

出版商更正:PRDX1 突变等位基因导致 cblC 患者发生 MMACHC 继发性表观遗传突变

Guéant, Jean-Louis; Chéry, Céline; Oussalah, Abderrahim; Nadaf, Javad; Coelho, David; Josse, Thomas; Flayac, Justine; Robert, Aurélie; Koscinski, Isabelle; Gastin, Isabelle; Filhine-Tresarrieu, Pierre; Pupavac, Mihaela; Brebner, Alison; Watkins, David; Pastinen, Tomi; Montpetit, Alexandre; Hariri, Fadi; Tregouët, David; Raby, Benjamin A; Chung, Wendy K; Morange, Pierre-Emmanuel; Froese, D Sean; Baumgartner, Matthias R; Benoist, Jean-François; Ficicioglu, Can; Marchand, Virginie; Motorin, Yuri; Bonnemains, Chrystèle; Feillet, François; Majewski, Jacek; Rosenblatt, David S

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

APRDX1 突变等位基因导致 cblC 患者发生 MMACHC 二次表观突变

Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregou

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

THAP11 基因突变会导致先天性钴胺素代谢缺陷和发育异常

Anita M Quintana, Hung-Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A Geiger, Abigail Watson, Victoria L Castro, Warren Cheung, Shu-Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S Rosenblatt, Tamim H Shaikh

A RaDiCAL gene hunt

一场激进的基因搜寻

Pupavac, Mihaela; Zawati, Ma'n H; Rosenblatt, David S

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head

在股骨头坏死患者中发现TRPV4基因功能获得性突变

Mah, Wayne; Sonkusare, Swapnil K; Wang, Tracy; Azeddine, Bouziane; Pupavac, Mihaela; Carrot-Zhang, Jian; Hong, Kwangseok; Majewski, Jacek; Harvey, Edward J; Russell, Laura; Chalk, Colin; Rosenblatt, David S; Nelson, Mark T; Séguin, Chantal

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia

蛋氨酸合酶同工酶与 MMACHC 之间的相互作用:cblG 变异、cblG 和 cblC 遗传性巨幼细胞贫血病因的特征

Ma'atem B Fofou-Caillierez, Nadir T Mrabet, Céline Chéry, Natacha Dreumont, Justine Flayac, Mihaela Pupavac, Justine Paoli, Jean-Marc Alberto, David Coelho, Jean-Michel Camadro, François Feillet, David Watkins, Brian Fowler, David S Rosenblatt, Jean-Louis Guéant