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

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 功能丧失突变会导致小头畸形和身材矮小

Verdu Schlie Aitana, Leitch Andrea, Arismendi Maria Izabel, Stok Colin, Castro Leal Andrea, Parry David A, Marcondes Lerario Antonio, Harley Margaret E, Lucheze Bruna, Carroll Paula L, Musialik Kamila I, Auer Julia M T, Martin Carol-Anne, Gerasimavicius Lukas, Quigley Alan J, de Menezes Correia-Deur Joya Emilie, Marsh Joseph A, Reijns Martin A M, Lampe Anne K, Jackson Andrew P, Jorge Alexander A L, Tamayo-Orrego Lukas

Human RNase H2 upregulation counteracts oncogene- and chemotherapy-induced replication stress.

人类 RNase H2 上调可抵消癌基因和化疗引起的复制压力

Wilkins Rosanna J, Kannan Abirami, Plass Siobhan A, Wilson Claire, Kelly Richard D W, Tang Claire H M, Kotsantis Panagiotis, Reijns Martin A M, Kanhere Aditi, Petermann Eva

Publisher Correction: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

出版商更正:癌症和生殖系中TOP1转录相关突变的特征

Reijns, Martin A M; Parry, David A; Williams, Thomas C; Nadeu, Ferran; Hindshaw, Rebecca L; Rios Szwed, Diana O; Nicholson, Michael D; Carroll, Paula; Boyle, Shelagh; Royo, Romina; Cornish, Alex J; Xiang, Hang; Ridout, Kate; Schuh, Anna; Aden, Konrad; Palles, Claire; Campo, Elias; Stankovic, Tatjana; Taylor, Martin S; Jackson, Andrew P

User acceptability of saliva and gargle samples for identifying COVID-19 positive high-risk workers and household contacts

用户对唾液和漱口液样本用于识别新冠病毒阳性高风险工作人员和家庭接触者的接受度

McLennan, Kirsty; Barton, Ellen; Lang, Christie; Adams, Ian R; McAllister, Gina; Reijns, Martin A M; Templeton, Kate; Johannessen, Ingólfur; Leckie, Alastair; Gilbert, Nick

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

DNA2基因的双等位基因变异导致小头畸形原始侏儒症

Tarnauskaitė, Žygimantė; Bicknell, Louise S; Marsh, Joseph A; Murray, Jennie E; Parry, David A; Logan, Clare V; Bober, Michael B; de Silva, Deepthi C; Duker, Angela L; Sillence, David; Wise, Carol; Jackson, Andrew P; Murina, Olga; Reijns, Martin A M

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome

RNASEH2A基因的同义突变会产生隐蔽剪接位点,从而损害Aicardi-Goutières综合征中RNase H2酶的功能。

Rice, Gillian I; Reijns, Martin A M; Coffin, Stephanie R; Forte, Gabriella M A; Anderson, Beverley H; Szynkiewicz, Marcin; Gornall, Hannah; Gent, David; Leitch, Andrea; Botella, Maria P; Fazzi, Elisa; Gener, Blanca; Lagae, Lieven; Olivieri, Ivana; Orcesi, Simona; Swoboda, Kathryn J; Perrino, Fred W; Jackson, Andrew P; Crow, Yanick J

Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development

从DNA中酶促去除核糖核苷酸对于哺乳动物基因组的完整性和发育至关重要。

Reijns, Martin A M; Rabe, Björn; Rigby, Rachel E; Mill, Pleasantine; Astell, Katy R; Lettice, Laura A; Boyle, Shelagh; Leitch, Andrea; Keighren, Margaret; Kilanowski, Fiona; Devenney, Paul S; Sexton, David; Grimes, Graeme; Holt, Ian J; Hill, Robert E; Taylor, Martin S; Lawson, Kirstie A; Dorin, Julia R; Jackson, Andrew P

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

人类和小鼠的WDR35基因突变会导致纤毛发生异常,从而引发短肋多指畸形综合征。

Mill, Pleasantine; Lockhart, Paul J; Fitzpatrick, Elizabeth; Mountford, Hayley S; Hall, Emma A; Reijns, Martin A M; Keighren, Margaret; Bahlo, Melanie; Bromhead, Catherine J; Budd, Peter; Aftimos, Salim; Delatycki, Martin B; Savarirayan, Ravi; Jackson, Ian J; Amor, David J

A role for Q/N-rich aggregation-prone regions in P-body localization

Q/N 富集易聚集区域在 P 小体定位中的作用

Reijns, Martin A M; Alexander, Ross D; Spiller, Michael P; Beggs, Jean D

Requirements for nuclear localization of the Lsm2-8p complex and competition between nuclear and cytoplasmic Lsm complexes

Lsm2-8p复合物核定位的要求以及核内和胞质Lsm复合物之间的竞争

Spiller, Michael P; Reijns, Martin A M; Beggs, Jean D