Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension-Reference-Cited by-同舟云学术

Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension

Published:2018-12 Issue:12 Volume:11 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ Genom Precis Med.

Author:

Suzuki Hisato¹,Kataoka Masaharu²,Hiraide Takahiro²,Aimi Yuki³,Yamada Yoshitake⁴,Katsumata Yoshinori²,Chiba Tomohiro⁵,Kanekura Kohsuke⁶,Isobe Sarasa²,Sato Yasunori⁷,Satoh Toru³,Gamou Shinobu²,Fukuda Keiichi²,Kosaki Kenjiro¹

Affiliation:

1. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan (H.S., K. Kosaki)

2. Department of Cardiology, Keio University School of Medicine, Tokyo, Japan (M.K., T.H., Y.K., S.I., S.G., K.F.)

3. Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan (Y.A., T.S.)

4. Department of Diagnostic Radiology, Keio University School of Medicine, Tokyo, Japan (Y.Y.)

5. Department of Pathology, Kyorin University School of Medicine, Tokyo, Japan (T.C.)

6. Department of Molecular Pathology, Tokyo Medical University, Japan (K. Kanekura).

7. Department of Preventive Medicine and Public Health, Biostatistics Unit at Clinical and Translational Research Center, Keio University School of Medicine, Tokyo, Japan (Y.S.)

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference5 articles.

1. Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population

2. Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

3. A new horizon of moyamoya disease and associated health risks explored through RNF213

4. Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy

5. Rare variants in RNF213 , a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia‐induced pulmonary hypertension in mice

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1. RNF213 Polymorphisms in Intracranial Artery Dissection;Genes;2024-06-01

2. <i>RNF213</i>-Related Vasculopathy: Various Systemic Vascular Diseases Involving <i>RNF213</i> Gene Mutations: Review;Journal of Nippon Medical School;2024-04-25

3. Hypertensive disorders of pregnancy in moyamoya disease: A single institution experience;Journal of Stroke and Cerebrovascular Diseases;2023-11

4. Genetic and epigenetic factors of arterial hypertension: a bibliometric- and in-silico-based analyses;Frontiers in Molecular Biosciences;2023-10-12

5. Two cases of pulmonary arterial hypertension with specific vascular Мalformations and unique eosinophilic inflammation in carriers of the RNF213 p. Arg4810Lys variant: Case series;Respiratory Medicine Case Reports;2023