Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature-Reference-Cited by-同舟云学术

Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature

Published:2017-09-25 Issue:12 Volume:173 Page:3189-3194
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Li Niu¹^ORCID,Chang Guoying²,Xu Yufei¹,Ding Yu²,Li Guoqiang¹,Yu Tingting¹,Yao Ruen¹,Li Juan²,Shen Yiping¹³,Wang Xiumin²,Wang Jian¹^ORCID

Affiliation:

1. Department of Medical Genetics and Molecular Diagnostic Laboratory; Shanghai Children's Medical Center; Shanghai Jiaotong University School of Medicine; Shanghai China

2. Department of Endocrinology and Metabolism; Shanghai Children's Medical Center; Shanghai Jiaotong University School of Medicine; Shanghai China

3. Division of Genetics and Genomics; Boston Children's Hospital; Harvard Medical School; Boston Massachusetts

Funder

National Natural Science Foundation of China

Science and Technology Commission of Shanghai Municipality

Shanghai Municipal Education Commission

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. 1-Acyldihydroxyacetone-phosphate reductase (Ayr1p) of the yeast Saccharomyces cerevisiae encoded by the open reading frame YIL124w is a major component of lipid particles;Athenstaedt;The Journal of Biological Chemistry,2000

2. Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1;Basel-Vanagaite;The American Journal of Human Genetics,2012

3. Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency;Dionisi-Vici;Journal of Inherited Metabolic Disease,2016

4. Arterial stiffening, insulin resistance and acanthosis nigricans in a community sample of adolescents with obesity;Hudson;International Journal of Obesity,2017

5. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia;Joshi;European Journal of Human Genetics,2014

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of candidate biomarkers and pathways associated with multiple sclerosis using bioinformatics and next generation sequencing data analysis;2023-12-07

2. Study on Potential Differentially Expressed Genes in Idiopathic Pulmonary Fibrosis by Bioinformatics and Next-Generation Sequencing Data Analysis;Biomedicines;2023-11-21

3. Study on potential differentially expressed genes in idiopathic pulmonary fibrosis by bioinformatics and next generation sequencing data analysis;2023-09-20

4. GPD1 inhibits the carcinogenesis of breast cancer through increasing PI3K/AKT-mediated lipid metabolism signaling pathway;Heliyon;2023-07

5. A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene;Journal of Pediatric Endocrinology and Metabolism;2023-05-23