Cai, Meiying Lin, Na Chen, Xuemei Fu, Meimei Guo, Nan Xu, Liangpu Huang, Hailong
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BMC Medical Genomics
BackgroundSome ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers.MethodsAmon...
Ustinova, Monta Peculis, Raitis Rescenko, Raimonds Rovite, Vita Zaharenko, Linda Elbere, Ilze Silamikele, Laila Konrade, Ilze Sokolovska, Jelizaveta Pirags, Valdis
...
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BMC Medical Genomics
BackgroundType 2 diabetes complications cause a serious emotional and economical burden to patients and healthcare systems globally. Management of both acute and chronic complications of diabetes, which dramatically impair the quality of patients' life, is still an unsolved issue in diabetes care, suggesting a need for early identification of indiv...
Heil, Jessica Zajic, Stefan Albertson, Emily Brangan, Andrew Jones, Iris Roberts, Wendy Sabia, Michael Bodofsky, Elliot Resch, Alissa Rafeq, Rachel
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BMC Medical Genomics
BackgroundThe opioid use disorder and overdose crisis in the United States affects public health as well as social and economic welfare. While several genetic and non-genetic risk factors for opioid use disorder have been identified, many of the genetic associations have not been independently replicated, and it is not well understood how these fac...
Mitsuhashi, Satomi Frith, Martin C. Matsumoto, Naomichi
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BMC Medical Genomics
BackgroundTandem repeats are highly mutable and contribute to the development of human disease by a variety of mechanisms. It is difficult to predict which tandem repeats may cause a disease. One hypothesis is that changeable tandem repeats are the source of genetic diseases, because disease-causing repeats are polymorphic in healthy individuals. H...
Wang, Deqiang Guan, Ruting Tao, Qing Liu, Sisi Yu, Man Li, Xiaoqin
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BMC Medical Genomics
BackgroundIn addition to ovarian and breast cancers, loss-of-function mutations in BRCA1 and BRCA2 genes are also linked to an increased risk of pancreatic cancer, with ~ 4 to 7% of pancreatic cancer patients harboring germline BRCA mutations. Most BRCA alterations in pancreatic cancer are frame-shifting indels, stop-gain, and splice-site mutations...
Wang, Jianbo Li, Weisheng Zhou, Naihui Liu, Jingliu Zhang, Shoumin Li, Xueli Li, Zhenlu Yang, Ziliang Sun, Miao Li, Min
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BMC Medical Genomics
BackgroundFamilial progressive hyper- and hypopigmentation (FPHH, MIM 145250) is a rare hereditary skin disorder that is predominantly characterized by progressive, diffuse, partly blotchy hyperpigmented lesions intermingled with scattered hypopigmented spots, lentigines and sometimes Cafe-au-lait spots (CALs). Heterozygous mutations of the KIT lig...
Jujjavarapu, Chethan Anandasakaran, Jeevan Amendola, Laura M. Haas, Cameron Zampino, Elizabeth Henrikson, Nora B. Jarvik, Gail P. Mooney, Sean D.
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BMC Medical Genomics
BackgroundGenetic testing allows patients and clinicians to understand the risk of hereditary diseases. By testing early, individuals can make informed medical decisions about management which may minimize the risk of developing certain diseases. Importantly, genetic test results may also be applicable to patients’ biological relatives; thus, these...
Li, Lijuan Song, Shaohua Fang, Xiaoling Cao, Donglin
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BMC Medical Genomics
BackgroundThe abnormal expression of activating transcription factor 3 (ATF3), a member of the basic leucine zipper (bZIP) family of transcription factors, is associated with carcinogenesis. However, the expression pattern and exact role of ATF3 in the development and progression of hepatocellular carcinoma (HCC) remain unclear.MethodsWe used UALCA...
Luo, Dan Yang, QingLing Wang, HaiBo Tan, Mao Zou, YanLei Liu, Jian
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BMC Medical Genomics
BackgroundThe role(s) of epigenetic reprogramming in gastric cancer (GC) remain obscure. This study was designed to identify methylated gene markers with prognostic potential for GC.MethodsFive datasets containing gene expression and methylation profiles from GC samples were collected from the GEO database, and subjected to meta-analysis. All five ...
Jonsson, Anna Stinson, Sara E. Torekov, Signe S. Clausen, Tine D. Færch, Kristine Kelstrup, Louise Grarup, Niels Mathiesen, Elisabeth R. Damm, Peter Witte, Daniel R.
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BMC Medical Genomics
BackgroundIn order to explore the pathophysiology underlying type 2 diabetes we examined the impact of gene variants associated with type 2 diabetes on circulating levels of glucagon during an oral glucose tolerance test (OGTT). Furthermore, we performed a genome-wide association study (GWAS) aiming to identify novel genomic loci affecting plasma g...