Search Result "Rare variants association study"


Research Article open access plus

A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations

Journal: Current Gene Therapy
Volume: 19 Issue: 4 Year: 2019 Page: 242-247
Author(s): DISCO (Deciphering Disorders Involving Scoliosis & Comorbidities) study group,Nan Wu,Lianlei Wang,Jianhua Hu,Sen Zhao,Bowen Liu,Yaqi Li,Huakang Du,Yuanqiang Zhang,Xiaoxin Li,Zihui Yan,Shengru Wang,Yipeng Wang,Jianguo Zhang,Zhihong Wu,Guixing Qiu

Review Article

Screening for Rare Genetic Variants Associated with Atherosclerosis: Opportunity for Personalized Medicine

Journal: Current Vascular Pharmacology
Volume: 17 Issue: 1 Year: 2019 Page: 25-28
Author(s): Ana Peterlin,Danijel Petrovic,Borut Peterlin

Research Article

Schizophrenia Patient Shows a Rare Interleukin 15 Receptor alpha Variant Disrupting Signal Transduction

Journal: Current Molecular Medicine
Volume: 19 Issue: 8 Year: 2019 Page: 560-569
Author(s): Yanli Pan,Zhimin Wang,Guangping Zhang,Junhua Guo,Xuequan Zhu,Jia Zhou,Zhenrong Zhang,Zuoli Sun,Jian Yang,Abba J. Kastin,Weihong Pan,Xiaojun Wu,Jianliang Zhang,Xiaomin Wang,Chuanyue Wang,Yi He

Research Article

Rare Germline GLMN Variants Identified from Blue Rubber Bleb Nevus Syndrome Might Impact mTOR Signaling

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 22 Issue: 1 Year: 2019 Page: 675-682
Author(s): Jie Yin,Zhongping Qin,Kai Wu,Yufei Zhu,Landian Hu,Xiangyin Kong

Research Article

Association of Common Variants in the IL-33/ST2 Axis with Ischemic Stroke

Journal: Current Neurovascular Research
Volume: 16 Issue: 5 Year: 2019 Page: 494-501
Author(s): Shuo Li,Zhijie Wang,Xinjing Liu,Yuanzhe Li,Changhe Shi,Jun Wu,Shilei Sun,Yusheng Li,Shaohua Li,Yuming Xu,Bo Song

Research Article

Evaluation of Activity Kinetic Parameters of SK319cys, As a New Cysteine Variant of Streptokinase: A Comparative Study

Journal: Current Pharmaceutical Biotechnology
Volume: 20 Issue: 1 Year: 2019 Page: 76-83
Author(s): Narges N. Alinodehi,Sanaz Sadeh,Farahnaz K. Nezamiha,Malihe Keramati,Mehdi Hasanzadeh,Reza A. Mianroodi

General Research Article

Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention

Journal: Current Genomics
Volume: 20 Issue: 7 Year: 2019 Page: 519-530
Author(s): Rahul Tyagi,Sumit Kumar,Ashwin Dalal,Faruq Mohammed,Manju Mohanty,Paramvir Kaur,Akshay Anand

Research Article

Asymptomatic Carriers of Presenilin-1 E318G Variant Show no Cerebrospinal Fluid Biochemical Signs Suggestive of Alzheimer’s disease in a Family with Late-onset Dementia

Journal: Current Alzheimer Research
Volume: 16 Issue: 1 Year: 2019 Page: 1-7
Author(s): Vladimiro Artuso,Luisa Benussi,Roberta Ghidoni,Soraya Moradi-Bachiller,Federica Fusco,Stefano Curtolo,Ignazio Roiter,Gianluigi Forloni,Diego Albani

Research Article

A Genetic Predictive Model Estimating the Risk of Developing Adolescent Idiopathic Scoliosis

Journal: Current Genomics
Volume: 20 Issue: 4 Year: 2019 Page: 246-251
Author(s): Leilei Xu,Zhichong Wu,Chao Xia,Nelson Tang,Jack C.Y. Cheng,Yong Qiu,Zezhang Zhu

Review Article

Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management

Journal: Current Medicinal Chemistry
Volume: 26 Issue: 3 Year: 2019 Page: 6766-6775
Author(s): Jose María Bastida,María Luisa Girós,Rocío Benito,Kamila Janusz,Jesús María Hernández-Rivas,José Ramón González-Porras

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