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

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

ITPase 缺乏会导致 Martsolf 样综合征,并伴有致命的婴儿扩张型心肌病

Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison Meynert, Eleanor S Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P Jackson, Bernard H Ramsahoye, Alex von Kriegsheim, Robert

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

TRAIP 在基因组复制过程中促进 DNA 损伤反应,并在原始侏儒症中发生突变

Margaret E Harley #, Olga Murina #, Andrea Leitch, Martin R Higgs, Louise S Bicknell, Gökhan Yigit, Andrew N Blackford, Anastasia Zlatanou, Karen J Mackenzie, Kaalak Reddy, Mihail Halachev, Sarah McGlasson, Martin A M Reijns, Adeline Fluteau, Carol-Anne Martin, Simone Sabbioneda, Nursel H Elcioglu, 

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

编码凝聚素复合物蛋白的基因突变会导致有丝分裂过程中解链失败,从而引起小头畸形。

Carol-Anne Martin ,Jennie E Murray ,Paula Carroll ,Andrea Leitch ,Karen J Mackenzie ,Mihail Halachev ,Ahmed E Fetit ,Charlotte Keith ,Louise S Bicknell ,Adeline Fluteau ,Philippe Gautier ,Emma A Hall ,Shelagh Joss ,Gabriela Soares ,João Silva ,Michael B Bober ,Angela Duker ,Carol A Wise ,Alan J Quigley ,Shubha R Phadke ,Paola Vagnarelli ,Andrew P Jackson