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

TNFSF13 insufficiency disrupts human colonic epithelial cell-mediated B cell differentiation

TNFSF13 不足会破坏人类结肠上皮细胞介导的 B 细胞分化

Xianghui Ma, Noor Dawany, Ayano Kondo, Kelly Maurer, Tatiana Karakasheva, Rawan Shraim, Patrick A Williams, Louis R Parham, Lauren A Simon, Charles H Danan, Maire A Conrad, David A Piccoli, Marcella Devoto, Kathleen E Sullivan, Klaus H Kaestner, Judith R Kelsen, Kathryn E Hamilton

Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy

MYO9B 突变与 2 型腓骨肌萎缩症和孤立性视神经萎缩有关

Silvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, Edward Zhao, Veith Vollmer, Danique Beijer, Matt Danzi, Cristina Rivellini, Dejan Lazarevic, Giovanni Battista Pipitone, Bianca Rose Grosz, Costanza Lamperti, Stefania Bianchi Marzoli, Paola Carrera, Marcella Devoto, Chiara Pisciotta, Davide Par

Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility

睾丸癌全基因组关联研究数据的亚表型荟萃分析表明,RBFOX家族基因在隐睾症易感性中发挥作用

Yanping Wang ,Dione R Gray ,Alan K Robbins ,Erin L Crowgey ,Stephen J Chanock ,Mark H Greene ,Katherine A McGlynn ,Katherine Nathanson ,Clare Turnbull ,Zhaoming Wang ,Marcella Devoto ,Julia Spencer Barthold

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

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma

3q25 上 MLF1 上游和 4p16 上 CPZ 内的常见变异与神经母细胞瘤相关

Lee D McDaniel, Karina L Conkrite, Xiao Chang, Mario Capasso, Zalman Vaksman, Derek A Oldridge, Anna Zachariou, Millicent Horn, Maura Diamond, Cuiping Hou, Achille Iolascon, Hakon Hakonarson, Nazneen Rahman, Marcella Devoto, Sharon J Diskin

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

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

COL12A1 的隐性和显性突变导致人类和小鼠出现新的 EDS/肌病重叠综合征

Yaqun Zou, Daniela Zwolanek, Yayoi Izu, Shreya Gandhy, Gudrun Schreiber, Knut Brockmann, Marcella Devoto, Zuozhen Tian, Ying Hu, Guido Veit, Markus Meier, Jörg Stetefeld, Debbie Hicks, Volker Straub, Nicol C Voermans, David E Birk, Elisabeth R Barton, Manuel Koch, Carsten G Bönnemann

Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility

GWAS 鉴定的神经母细胞瘤风险基因座的复制增强了 BARD1 的作用,并证实了遗传变异对疾病易感性的累积效应

Mario Capasso, Sharon J Diskin, Francesca Totaro, Luca Longo, Marilena De Mariano, Roberta Russo, Flora Cimmino, Hakon Hakonarson, Gian Paolo Tonini, Marcella Devoto, John M Maris, Achille Iolascon