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

Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia

线粒体异质性是慢性淋巴细胞白血病发生的危险因素。

Pasca, Sergiu; Hong, Yun Soo; Shi, Wen; Puiu, Daniela; Lake, Nicole J; Lek, Monkol; Guallar, Eliseo; Arking, Dan E; Gondek, Lukasz P

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

对由复发性变异 COL6A1 c.930+189C>T 引起的严重 COL6 相关营养不良症进行表征

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

对 11,555 名先证者的基因组分析鉴定出 60 个显性先天性心脏病基因

Sierant, Michael C; Jin, Sheng Chih; Bilguvar, Kaya; Morton, Sarah U; Dong, Weilai; Jiang, Wei; Lu, Ziyu; Li, Boyang; López-Giráldez, Francesc; Tikhonova, Irina; Zeng, Xue; Lu, Qiongshi; Choi, Jungmin; Zhang, Junhui; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Sedore, Stanley C; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; King, Eileen; Wagner, Michael; Srivastava, Deepak; Shen, Yufeng; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane W; Seidman, Jonathan G; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Brueckner, Martina; Lifton, Richard P

ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec

ODAD4相关原发性纤毛运动障碍:魁北克省五例病例及一个创始变异体的报告

Bourassa, Marie-Hélène; Sillon, Guillaume; Ding, Shuizi; Chioccioli, Maurizio; Lek, Monkol; Ma, Kaiyue; Mejia-Garcia, Alejandro; Gravel, Simon; Vinh, Donald C; Knowles, Michael R; Leigh, Margaret W; Davis, Stephanie D; Ferkol, Thomas; Olivier, Kenneth N; Schecterman, Elizabeth N; Yin, Weining; Sears, Patrick R; Gentzsch, Martina; Boyles, Susan E; Bennett, William D; Zeman, Kirby L; Ostrowski, Lawrence E; Zariwala, Maimoona A; Shapiro, Adam J

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

通过对超过6500个罕见病家族进行外显子组和基因组测序数据的系统分析,检测出线粒体DNA变异,从而解决了未确诊的病例。

Stenton, Sarah L; Laricchia, Kristen; Lake, Nicole J; Chaluvadi, Sushma; Ganesh, Vijay; DiTroia, Stephanie; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Heir, Emily; Austin-Tse, Christina; O'Leary, Melanie; Abu Shanap, Mayada; Barrows, Chelsea; Berger, Seth; Bönnemann, Carsten G; Bujakowska, Kinga M; Campagna, Dean R; Compton, Alison G; Donkervoort, Sandra; Fleming, Mark D; Gallacher, Lyndon; Gleeson, Joseph G; Haliloglu, Goknur; Pierce, Eric A; Place, Emily M; Sankaran, Vijay G; Shimamura, Akiko; Stark, Zornitza; Tan, Tiong Yang; Thorburn, David R; White, Susan M; Zaki, Maha S; Vilain, Eric; Lek, Monkol; Rehm, Heidi L; O'Donnell-Luria, Anne

Protocol to implement saturation mutagenesis-reinforced functional assays to resolve small-sized variants in disease-related genes

用于实施饱和诱变增强功能分析以解析疾病相关基因中小尺寸变异的方案

Logan O Gauthier,Ziyi Wang,Kenneth K Ng,Shushu Huang,Yafei Mao,Monkol Lek,Kaiyue Ma

Hypercholesterolemia-induced LXR signaling in smooth muscle cells contributes to vascular lesion remodeling and visceral function

高胆固醇血症诱导的平滑肌细胞LXR信号传导促进血管病变重塑和内脏功能

Zhang, Hanming; Sáenz de Urturi, Diego; Fernández-Tussy, Pablo; Huang, Yan; Jovin, Daniel G; Zhang, Xinbo; Huang, Shushu; Lek, Monkol; da Silva Catarino, Jonatas; Sternak, Magdalena; Citrin, Kathryn M; Swirski, Fillip K; Gustafsson, Jan-Åke; Greif, Daniel M; Esplugues, Enric; Biwer, Lauren A; Suárez, Yajaira; Fernández-Hernando, Carlos

Saturation mutagenesis-reinforced functional assays for disease-related genes

饱和诱变增强型疾病相关基因功能分析

Kaiyue Ma,Shushu Huang,Kenneth K Ng,Nicole J Lake,Soumya Joseph,Jenny Xu,Angela Lek,Lin Ge,Keryn G Woodman,Katherine E Koczwara,Justin Cohen,Vincent Ho,Christine L O'Connor,Melinda A Brindley,Kevin P Campbell,Monkol Lek

Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms

线粒体异质性可提高髓系肿瘤的风险预测准确性

Hong, Yun Soo; Pasca, Sergiu; Shi, Wen; Puiu, Daniela; Lake, Nicole J; Lek, Monkol; Ru, Meng; Grove, Megan L; Prizment, Anna; Joshu, Corinne E; Platz, Elizabeth A; Guallar, Eliseo; Arking, Dan E; Gondek, Lukasz P

Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease

Glis2 是多囊蛋白信号的早期效应物,也是多囊肾病治疗的靶点

Chao Zhang #, Michael Rehman #, Xin Tian #, Steven Lim Cho Pei, Jianlei Gu, Thomas A Bell 3rd, Ke Dong, Ming Shen Tham, Yiqiang Cai, Zemeng Wei, Felix Behrens, Anton M Jetten, Hongyu Zhao, Monkol Lek, Stefan Somlo