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

Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations

从两名携带杂合JAG1突变的阿拉吉勒综合征患者中生成诱导多能干细胞系TRNDi037-A和TRNDi038-A

Elena F Evans ,Guibin Chen ,Ivan Pavlinov ,Xiuli Huang ,Kaari Linask ,Chengyu Liu ,Alexander Rodriguez Lopez ,Melissa A Gilbert ,Nancy B Spinner ,Steven Rodemse ,Karsten Baumgärtele ,Catherine Z Chen ,Jizhong Zou ,Wei Zheng

Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation

2,832 个 JAG1 变异的功能表征支持对 Alagille 综合征进行重新分类,并改进了临床变异解释指导

Melissa A Gilbert, Ernest Keefer-Jacques, Tanaya Jadhav, Daniel Antfolk, Qianqian Ming, Nicolette Valente, Grace Tzun-Wen Shaw, Christopher J Sottolano, Grace Matwijec, Vincent C Luca, Kathleen M Loomes, Ramakrishnan Rajagopalan, Tristan J Hayeck, Nancy B Spinner

Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

隐秘的 JAG1 剪接变体作为 Alagille 综合征病因的研究以及剪接预测工具的性能评估

Ernest Keefer-Jacques, Nicolette Valente, Anastasia M Jacko, Grace Matwijec, Apsara Reese, Aarna Tekriwal, Kathleen M Loomes, Nancy B Spinner, Melissa A Gilbert

Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene

构建携带JAG1基因杂合突变(p.Cys693*)的阿拉吉尔综合征(ALGS)患者来源的诱导多能干细胞系(TRNDi036-A)

Omer Hatim ,Miao Xu ,Ivan Pavlinov ,Kaari Linask ,Jeanette Beers ,Jizhong Zou ,Chengyu Liu ,Steven Rodems ,Karsten Baumgärtel ,Melissa A Gilbert ,Nancy B Spinner ,Catherine Chen ,Wei Zheng

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome

胆道闭锁脾畸形综合征患儿多囊肾病 1 类 1 基因变异的鉴定

John-Paul Berauer, Anya I Mezina, David T Okou, Aniko Sabo, Donna M Muzny, Richard A Gibbs, Madhuri R Hegde, Pankaj Chopra, David J Cutler, David H Perlmutter, Laura N Bull, Richard J Thompson, Kathleen M Loomes, Nancy B Spinner, Ramakrishnan Rajagopalan, Stephen L Guthery, Barry Moore, Mark Yandell

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

全基因组关联研究确定了 2p16.1 基因 EFEMP1 内胆道闭锁的易感位点

Ying Chen, Melissa A Gilbert, Christopher M Grochowski, Deborah McEldrew, Jessica Llewellyn, Orith Waisbourd-Zinman, Hakon Hakonarson, Joan E Bailey-Wilson, Pierre Russo, Rebecca G Wells, Kathleen M Loomes, Nancy B Spinner, Marcella Devoto

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

THBS2 是 Alagille 综合征中肝病严重程度的候选修饰因子

Ellen A Tsai, Melissa A Gilbert, Christopher M Grochowski, Lara A Underkoffler, He Meng, Xiaojie Zhang, Michael M Wang, Hailu Shitaye, Kurt D Hankenson, David Piccoli, Henry Lin, Binita M Kamath, Marcella Devoto, Nancy B Spinner, Kathleen M Loomes

Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome

Pallister Killian 综合征患者成纤维细胞系的全基因组表达分析

Maninder Kaur, Kosuke Izumi, Alisha B Wilkens, Kathryn C Chatfield, Nancy B Spinner, Laura K Conlin, Zhe Zhang, Ian D Krantz

Transcriptional dysregulation in NIPBL and cohesin mutant human cells

NIPBL 和黏连蛋白突变人类细胞中的转录失调

Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Dinah Clark, Maninder Kaur, Stephany Tandy, Tatsuro Kondoh, Eric Rappaport, Nancy B Spinner, Hugo Vega, Laird G Jackson, Katsuhiko Shirahige, Ian D Krantz