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

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

罕见变异富集分析支持GREB1L是Mayer-Rokitansky-Küster-Hauser综合征病因学中的一个驱动基因。

Jolly, Angad; Du, Haowei; Borel, Christelle; Chen, Na; Zhao, Sen; Grochowski, Christopher M; Duan, Ruizhi; Fatih, Jawid M; Dawood, Moez; Salvi, Sejal; Jhangiani, Shalini N; Muzny, Donna M; Koch, André; Rouskas, Konstantinos; Glentis, Stavros; Deligeoroglou, Efthymios; Bacopoulou, Flora; Wise, Carol A; Dietrich, Jennifer E; Van den Veyver, Ignatia B; Dimas, Antigone S; Brucker, Sara; Sutton, V Reid; Gibbs, Richard A; Antonarakis, Stylianos E; Wu, Nan; Coban-Akdemir, Zeynep H; Zhu, Lan; Posey, Jennifer E; Lupski, James R

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser综合征中与苗勒氏管和沃尔夫氏管发育相关的基因紊乱

Chen, Na; Zhao, Sen; Jolly, Angad; Wang, Lianlei; Pan, Hongxin; Yuan, Jian; Chen, Shaoke; Koch, André; Ma, Congcong; Tian, Weijie; Jia, Ziqi; Kang, Jia; Zhao, Lina; Qin, Chenglu; Fan, Xin; Rall, Katharina; Coban-Akdemir, Zeynep; Chen, Zefu; Jhangiani, Shalini; Liang, Ze; Niu, Yuchen; Li, Xiaoxin; Yan, Zihui; Wu, Yong; Dong, Shuangshuang; Song, Chengcheng; Qiu, Guixing; Zhang, Shuyang; Liu, Pengfei; Posey, Jennifer E; Zhang, Feng; Luo, Guangnan; Wu, Zhihong; Su, Jianzhong; Zhang, Jianguo; Chen, Eugenia Y; Rouskas, Konstantinos; Glentis, Stavros; Bacopoulou, Flora; Deligeoroglou, Efthymios; Chrousos, George; Lyonnet, Stanislas; Polak, Michel; Rosenberg, Carla; Dingeldein, Irene; Bonilla, Ximena; Borel, Christelle; Gibbs, Richard A; Dietrich, Jennifer E; Dimas, Antigone S; Antonarakis, Stylianos E; Brucker, Sara Y; Lupski, James R; Wu, Nan; Zhu, Lan

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

非整倍体单细胞转录组揭示基因剂量失衡的机制

Stamoulis, Georgios; Garieri, Marco; Makrythanasis, Periklis; Letourneau, Audrey; Guipponi, Michel; Panousis, Nikolaos; Sloan-Béna, Frédérique; Falconnet, Emilie; Ribaux, Pascale; Borel, Christelle; Santoni, Federico; Antonarakis, Stylianos E

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

人类成纤维细胞中单细胞等位基因特异性表达揭示了X染色体失活的广泛细胞异质性

Garieri, Marco; Stamoulis, Georgios; Blanc, Xavier; Falconnet, Emilie; Ribaux, Pascale; Borel, Christelle; Santoni, Federico; Antonarakis, Stylianos E

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

通过单细胞等位基因特异性基因表达检测印记基因

Santoni, Federico A; Stamoulis, Georgios; Garieri, Marco; Falconnet, Emilie; Ribaux, Pascale; Borel, Christelle; Antonarakis, Stylianos E

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region

近端 Hspa13-App 区域部分三体和单体 21 号染色体小鼠模型表现出相反的肌肉力量和运动功能表型

Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahun, Ignasi; Pothion, Stéphanie; Karout, Mona; Borel, Christelle; Dembele, Doulaye; Bizot, Jean-Charles; Messaddeq, Nadia; Sharp, Andrew J; Roussel, Damien; Antonarakis, Stylianos E; Dierssen, Mara; Hérault, Yann

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

棕榈酰转移酶 HHAT 的功能丧失突变会阻碍 Hedgehog 蛋白的棕榈酰化和信号传导,从而导致 46,XY 性发育综合征

Callier Patrick, Calvel Pierre, Matevossian Armine, Makrythanasis Periklis, Bernard Pascal, Kurosaka Hiroshi, Vannier Anne, Thauvin-Robinet Christel, Borel Christelle, Mazaud-Guittot Séverine, Rolland Antoine, Desdoits-Lethimonier Christèle, Guipponi Michel, Zimmermann Céline, Stévant Isabelle, Kuhne Françoise, Conne Béatrice, Santoni Federico, Lambert Sandy, Huet Frederic, Mugneret Francine, Jaruzelska Jadwiga, Faivre Laurence, Wilhelm Dagmar, Jégou Bernard, Trainor Paul A, Resh Marilyn D, Antonarakis Stylianos E, Nef Serge

DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation

X染色体与常染色体易位中的DNA甲基化谱分析表明,L1重复序列在X染色体失活的扩散中发挥作用。

Bala Tannan, Neeta; Brahmachary, Manisha; Garg, Paras; Borel, Christelle; Alnefaie, Randah; Watson, Corey T; Thomas, N Simon; Sharp, Andrew J

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

更正:被动和主动DNA甲基化及其与基因调控中遗传变异的相互作用

Pembroke, William G; Babbs, Arran; Davies, Kay E; Ponting, Chris P; Oliver, Peter L; Gutierrez-Arcelus, Maria; Lappalainen, Tuuli; Montgomery, Stephen B; Buil, Alfonso; Ongen, Halit; Yurovsky, Alisa; Bryois, Julien; Giger, Thomas; Romano, Luciana; Planchon, Alexandra; Falconnet, Emilie; Bielser, Deborah; Gagnebin, Maryline; Padioleau, Ismael; Borel, Christelle; Letourneau, Audrey; Makrythanasis, Periklis; Guipponi, Michel; Gehrig, Corinne; Antonarakis, Stylianos E; Dermitzakis, Emmanouil T

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

在更广泛的欧洲遗传多样性背景下,对意大利东北部人群分离株进行遗传特征分析

Esko, Tõnu; Mezzavilla, Massimo; Nelis, Mari; Borel, Christelle; Debniak, Tadeusz; Jakkula, Eveliina; Julia, Antonio; Karachanak, Sena; Khrunin, Andrey; Kisfali, Peter; Krulisova, Veronika; Aušrelé Kučinskiené, Zita; Rehnström, Karola; Traglia, Michela; Nikitina-Zake, Liene; Zimprich, Fritz; Antonarakis, Stylianos E; Estivill, Xavier; Glavač, Damjan; Gut, Ivo; Klovins, Janis; Krawczak, Michael; Kučinskas, Vaidutis; Lathrop, Mark; Macek, Milan; Marsal, Sara; Meitinger, Thomas; Melegh, Béla; Limborska, Svetlana; Lubinski, Jan; Paolotie, Aarno; Schreiber, Stefan; Toncheva, Draga; Toniolo, Daniela; Wichmann, H-Erich; Zimprich, Alexander; Metspalu, Mait; Gasparini, Paolo; Metspalu, Andres; D'Adamo, Pio