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

HGG-40. NF1 mosaicism in a CMMRD-patient with a glioblastoma

HGG-40。CMMRD 患者胶质母细胞瘤中的 NF1 嵌合体

Dechow, Tobias N; Pedranzini, Laura; Leitch, Andrea; Leslie, Kenneth; Gerald, William L; Linkov, Irina; Bromberg, Jacqueline F; Guerrini-Rousseau, Lea; Cabaret, Odile; Muleris, Martine; Vidaud, Dominique; Cotteret, Sophie; Rouleau, Etienne; de Beaumais, Tiphaine Adam; Varlet, Pascale; Morscher, Raphael; Abbou, Samuel; Dufour, Christelle; Brugieres, Laurence; Grill, Jacques

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis

更正:编码凝聚素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。

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

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

非同源末端连接 (NHEJ) 组分 XRCC4 的突变会导致原始侏儒症。

Murray, Jennie E; van der Burg, Mirjam; IJspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller, Edward S; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier-Daire, Valerie; Deshpande, Charu; Faqeih, Eissa A; Graham, Gail E; Ranza, Emmanuelle; Blundell, Tom L; Jackson, Andrew P; Stewart, Grant S; Bicknell, Louise S

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

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

复制前复合体突变会导致梅尔-戈林综合征

Bicknell, Louise S; Bongers, Ernie M H F; Leitch, Andrea; Brown, Stephen; Schoots, Jeroen; Harley, Margaret E; Aftimos, Salim; Al-Aama, Jumana Y; Bober, Michael; Brown, Paul A J; van Bokhoven, Hans; Dean, John; Edrees, Alaa Y; Feingold, Murray; Fryer, Alan; Hoefsloot, Lies H; Kau, Nikolaus; Knoers, Nine V A M; Mackenzie, James; Opitz, John M; Sarda, Pierre; Ross, Alison; Temple, I Karen; Toutain, Annick; Wise, Carol A; Wright, Michael; Jackson, Andrew P

SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation

SET核癌基因与小头畸形蛋白/MCPH1结合并调节染色体凝聚

Leung, Justin W; Leitch, Andrea; Wood, Jamie L; Shaw-Smith, Charles; Metcalfe, Kay; Bicknell, Louise S; Jackson, Andrew P; Chen, Junjie

Diverse retrotransposon families and an AT-rich satellite DNA revealed in giant genomes of Fritillaria lilies

贝母巨型基因组中揭示了多样的逆转录转座子家族和富含 AT 的卫星 DNA

Katerina Ambrozová, Terezie Mandáková, Petr Bures, Pavel Neumann, Ilia J Leitch, Andrea Koblízková, Jirí Macas, Martin A Lysak

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Aicardi-Goutieres综合征的临床和分子表型

Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard; Bacino, Carlos A; Barroso, Bruno; Baxter, Peter; Benko, Willam S; Bergmann, Carsten; Bertini, Enrico; Biancheri, Roberta; Blair, Edward M; Blau, Nenad; Bonthron, David T; Briggs, Tracy; Brueton, Louise A; Brunner, Han G; Burke, Christopher J; Carr, Ian M; Carvalho, Daniel R; Chandler, Kate E; Christen, Hans-Jurgen; Corry, Peter C; Cowan, Frances M; Cox, Helen; D'Arrigo, Stefano; Dean, John; De Laet, Corinne; De Praeter, Claudine; Dery, Catherine; Ferrie, Colin D; Flintoff, Kim; Frints, Suzanna G M; Garcia-Cazorla, Angels; Gener, Blanca; Goizet, Cyril; Goutieres, Francoise; Green, Andrew J; Guet, Agnes; Hamel, Ben C J; Hayward, Bruce E; Heiberg, Arvid; Hennekam, Raoul C; Husson, Marie; Jackson, Andrew P; Jayatunga, Rasieka; Jiang, Yong-Hui; Kant, Sarina G; Kao, Amy; King, Mary D; Kingston, Helen M; Klepper, Joerg; van der Knaap, Marjo S; Kornberg, Andrew J; Kotzot, Dieter; Kratzer, Wilfried; Lacombe, Didier; Lagae, Lieven; Landrieu, Pierre Georges; Lanzi, Giovanni; Leitch, Andrea; Lim, Ming J; Livingston, John H; Lourenco, Charles M; Lyall, E G Hermione; Lynch, Sally A; Lyons, Michael J; Marom, Daphna; McClure, John P; McWilliam, Robert; Melancon, Serge B; Mewasingh, Leena D; Moutard, Marie-Laure; Nischal, Ken K; Ostergaard, John R; Prendiville, Julie; Rasmussen, Magnhild; Rogers, R Curtis; Roland, Dominique; Rosser, Elisabeth M; Rostasy, Kevin; Roubertie, Agathe; Sanchis, Amparo; Schiffmann, Raphael; Scholl-Burgi, Sabine; Seal, Sunita; Shalev, Stavit A; Corcoles, C Sierra; Sinha, Gyan P; Soler, Doriette; Spiegel, Ronen; Stephenson, John B P; Tacke, Uta; Tan, Tiong Yang; Till, Marianne; Tolmie, John L; Tomlin, Pam; Vagnarelli, Federica; Valente, Enza Maria; Van Coster, Rudy N A; Van der Aa, Nathalie; Vanderver, Adeline; Vles, Johannes S H; Voit, Thomas; Wassmer, Evangeline; Weschke, Bernhard; Whiteford, Margo L; Willemsen, Michel A A; Zankl, Andreas; Zuberi, Sameer M; Orcesi, Simona; Fazzi, Elisa; Lebon, Pierre; Crow, Yanick J