Arupa相关文献与解析，生知库 | 链接生命科学的每一步

Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity

对葡萄膜黑色素瘤全基因组关联研究的荟萃分析发现了新的风险位点和人群效应大小异质性

doi:10.1016/j.xhgg.2025.100465

Mies, Georgia; Tsao, Noah L; Houy, Alexandre; Coupland, Sarah E; Kalirai, Helen; Försti, Asta; Hemminki, Kari; Thomsen, Hauke; Stern, Marc-Henri; Shields, Carol L; Damrauer, Scott M; Ewens, Katheryn G; Ganguly, Arupa; Mathieson, Iain

黑色素瘤

发表日期：2025

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Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1

先天性高胰岛素血症和长QT间期综合征是由KCNE1基因变异引起的

期刊:Hormone Research in Paediatrics

影响因子:2.7

doi:10.1159/000542552

Sigal, Winifred; Boodhansingh, Kara E; Ganguly, Arupa; Mitteer, Lauren M; Stanley, Charles A; De León, Diva D

免疫/内分泌

发表日期：2025

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Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

多种基因组技术验证罕见新变异并指导血管畸形的医疗护理

期刊:American Journal of Medical Genetics Part A

影响因子:1.7

doi:10.1002/ajmg.a.64126

Torales, Luciana Daniela Garlisi; Woodis, Kristina; Britt, Allison; Surrey, Lea F; Srinivasan, Abhay; Ganguly, Arupa; Limmina, Maria; Li, Dong; MacFarland, Suzanne P; Adams, Denise M; Sheppard, Sarah E

发表日期：2025

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Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in an Individual with Discrepant Radiology, Pathology, and Clinical Findings

体细胞基因检测可为放射学、病理学和临床检查结果不一致的个体诊断疣状静脉畸形。

期刊:

影响因子:

doi:10.1097/jova.0000000000000120

Britt, Allison; Bolli, Amber; Treat, James; Cahill, Anne Marie; Adams, Denise; Ganguly, Arupa; Queenan, Maria; Surrey, Lea; Low, David; Sheppard, Sarah

细胞生物学

发表日期：2025

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Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1

ACMG/AMP遗传性出血性毛细血管扩张症基因变异注释指南规范-ENG和ACVRL1

期刊:Human Mutation

影响因子:3.7

doi:10.1155/2024/3043736

DeMille, Desiree; McDonald, Jamie; Bernabeu, Carmelo; Racher, Hilary; Olivieri, Carla; Cantarini, Claudia; Sbalchiero, Anna; Thompson, Bryony A; Jovine, Luca; Shovlin, Claire L; Dupuis-Girod, Sophie; Lesca, Gaetan; Tusseau, Maud; Ganguly, Arupa; Kasthuri, Raj S; Jessen, Jaime; Massink, Maarten P G; Ichikawa, Shoji; Bayrak-Toydemir, Pinar

ENG

发表日期：2024

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Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

嵌合性激活型 KRAS 变异引起的淋巴系统疾病对 MEK 抑制有反应

期刊:JCI Insight

影响因子:6.3

doi:10.1172/jci.insight.155888

Sarah E Sheppard, Michael E March, Christoph Seiler, Leticia S Matsuoka, Sophia E Kim, Charlly Kao, Adam I Rubin, Mark R Battig, Nahla Khalek, Erica Schindewolf, Nora O'Connor, Erin Pinto, Jessica Rc Priestley, Victoria R Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana Slater, Ilona J Fried

A prognostic classification system for uveal melanoma based on a combination of patient age and sex, the American Joint Committee on Cancer and the Cancer Genome Atlas models

基于患者年龄和性别、美国癌症联合委员会（AJCC）和癌症基因组图谱（TCGA）模型的葡萄膜黑色素瘤预后分类系统

期刊:Acta Ophthalmologica

影响因子:2.8

doi:10.1111/aos.15210

Gill, Viktor T; Sabazade, Shiva; Herrspiegel, Christina; Ewens, Kathryn G; Opalko, Adrianna; Dan, Nicole; Christersdottir, Tinna; Berg Rendahl, Alexander; Shields, Carol L; Seregard, Stefan; Ganguly, Arupa; Stålhammar, Gustav

Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations

由ABCC8和GCK嵌合突变引起的局部胰岛核增大高胰岛素血症（LINE-HI）

期刊:European Journal of Endocrinology

影响因子:5.2

doi:10.1530/EJE-21-1095

Boodhansingh, Kara E; Yang, Zhongying; Li, Changhong; Chen, Pan; Lord, Katherine; Becker, Susan A; States, Lisa J; Adzick, N Scott; Bhatti, Tricia; Shyng, Show-Ling; Ganguly, Arupa; Stanley, Charles A; De Leon, Diva D

免疫/内分泌

发表日期：2022

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Improved Uveal Melanoma Copy Number Subtypes Including an Ultra-High-Risk Group

改良的葡萄膜黑色素瘤拷贝数亚型，包括超高危组

期刊:Ophthalmology Science

影响因子:4.6

doi:10.1016/j.xops.2022.100121

Lalonde, Emilie; Ewens, Kathryn; Richards-Yutz, Jennifer; Ebrahimzedeh, Jessica; Terai, Mizue; Gonsalves, Carin F; Sato, Takami; Shields, Carol L; Ganguly, Arupa

黑色素瘤

发表日期：2022

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Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism

低水平嵌合型 GCK 突变与二氮嗪无反应的先天性高胰岛素血症患儿相关

Meta-analysis of uveal melanoma genome-wide association studies identifies novel risk loci and population effect size heterogeneity

对葡萄膜黑色素瘤全基因组关联研究的荟萃分析发现了新的风险位点和人群效应大小异质性

Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1

先天性高胰岛素血症和长QT间期综合征是由KCNE1基因变异引起的

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

多种基因组技术验证罕见新变异并指导血管畸形的医疗护理

Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in an Individual with Discrepant Radiology, Pathology, and Clinical Findings

体细胞基因检测可为放射学、病理学和临床检查结果不一致的个体诊断疣状静脉畸形。

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1

ACMG/AMP遗传性出血性毛细血管扩张症基因变异注释指南规范-ENG和ACVRL1

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

嵌合性激活型 KRAS 变异引起的淋巴系统疾病对 MEK 抑制有反应

A prognostic classification system for uveal melanoma based on a combination of patient age and sex, the American Joint Committee on Cancer and the Cancer Genome Atlas models

基于患者年龄和性别、美国癌症联合委员会（AJCC）和癌症基因组图谱（TCGA）模型的葡萄膜黑色素瘤预后分类系统

Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations

由ABCC8和GCK嵌合突变引起的局部胰岛核增大高胰岛素血症（LINE-HI）

Improved Uveal Melanoma Copy Number Subtypes Including an Ultra-High-Risk Group

改良的葡萄膜黑色素瘤拷贝数亚型，包括超高危组