Articles

Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty

Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilateral progressive vision loss. The pathogenic gene of MCD is carbohydrate sulfotransferase 6 (CHST6). Herein, we report a novel missens...

Authors: Dewei Li, Le Tian, Xiaochuan Wang and Min Chen

Association of MTHFR C677T variant genotype with serum folate and Vit B12 in Iranian patients with colorectal cancer or adenomatous polyps

The incidence of colorectal cancer (CRC) has increased during recent years in Iran and other developing countries. Clinical studies suggest that essential folate dietary intake and moderate deficiency of methy...

Authors: Mahla Ghorbani, Marjan Azghandi, Reza Khayami, Javad Baharara and Mohammad Amin Kerachian

A first case of ductal adenocarcinoma of the prostate having characteristics of neuroendocrine phenotype with PTEN, RB1 and TP53 alterations

Ductal adenocarcinoma and neuroendocrine cancer are rare subtypes of prostate cancer with poor prognosis and limited therapeutic options. We present the first case of ductal adenocarcinoma having a neuroendocr...

Authors: Hiroaki Kobayashi, Takeo Kosaka, Kohei Nakamura, Kazunori Shojo, Hiroshi Hongo, Shuji Mikami, Hiroshi Nishihara and Mototsugu Oya

Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing

Though massively parallel sequencing has been widely applied to noninvasive prenatal screen for common trisomy, the clinical use of massively parallel sequencing to noninvasive prenatal diagnose monogenic diso...

Authors: Chao Chen, Min Chen, Yaping Zhu, Lu Jiang, Jia Li, Yaoshen Wang, Zhe Lu, Fengyu Guo, Hairong Wang, Zhiyu Peng, Yun Yang and Jun Sun

Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle

Congenital heart disease (CHD) is one of the most common birth defects. Copy number variations (CNVs) have been proved to be important genetic factors that contribute to CHD. Here we screened genome-wide CNVs ...

Authors: Xingyu Zhang, Bo Wang, Guoling You, Ying Xiang, Qihua Fu, Yongguo Yu and Xiaoqing Zhang

Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants

Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new va...

Authors: Chunyan Chen, Jiong Gao, Qing Lv, Chen Xu, Yu Xia and Ailian Du

Identification of immunization-related new prognostic biomarkers for papillary renal cell carcinoma by integrated bioinformatics analysis

Despite papillary renal cell carcinoma (pRCC) being the second most common type of kidney cancer, the underlying molecular mechanism remains unclear. Targeted therapies in the past have not been successful bec...

Authors: Ping Wu, Tingting Xiang, Jing Wang, Run Lv, Shaoxin Ma, Limei Yuan, Guangzhen Wu and Xiangyu Che

Genetic and epigenetic associations of ANRIL with coronary artery disease and risk factors

Both DNA genotype and methylation of antisense non-coding RNA in the INK4 locus (ANRIL) have been robustly associated with coronary artery disease (CAD), but the interdependent mechanisms of genotype and methylat...

Authors: Bayi Xu, Zhixia Xu, Yequn Chen, Nan Lu, Zhouwu Shu and Xuerui Tan

Integrated bioinformatics analysis of core regulatory elements involved in keloid formation

Keloid is a benign fibro-proliferative dermal tumor formed by an abnormal scarring response to injury and characterized by excessive collagen accumulation and invasive growth. The mechanism of keloid formation...

Authors: Chuying Li, Meitong Jin, Yinli Luo, Zhehu Jin and Longquan Pi

Design and user experience testing of a polygenic score report: a qualitative study of prospective users

Polygenic scores—which quantify inherited risk by integrating information from many common sites of DNA variation—may enable a tailored approach to clinical medicine. However, alongside considerable enthusiasm...

Authors: Deanna G. Brockman, Lia Petronio, Jacqueline S. Dron, Bum Chul Kwon, Trish Vosburg, Lisa Nip, Andrew Tang, Mary O’Reilly, Niall Lennon, Bang Wong, Kenney Ng, Katherine H. Huang, Akl C. Fahed and Amit V. Khera

Identification and validation of pivotal genes related to age-related meniscus degeneration based on gene expression profiling analysis and in vivo and in vitro models detection

The componential and structural change in the meniscus with aging would increase the tissue vulnerability of the meniscus, which would induce meniscus tearing. Here, we investigated the molecular mechanism of ...

Authors: Ming Chen, Siqi Zhou, Huasong Shi, Hanwen Gu, Yinxian Wen and Liaobin Chen

Identification of seven novel ferroptosis-related long non-coding RNA signatures as a diagnostic biomarker for acute myeloid leukemia

Ferroptosis is a newly discovered type of programmed cell death that participates in the biological processes of various cancers. However, the mechanism by which ferroptosis modulates acute myeloid leukemia (A...

Authors: Zhiyuan Zheng, Wei Wu, Zehang Lin, Shuhan Liu, Qiaoqian Chen, Xiandong Jiang, Yan Xue and Donghong Lin

Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer

Microsatellite instability (MSI) is a biomarker for better outcomes in colorectal cancer (CRC). However, this conclusion is controversial. In addition, MSs can be a useful marker for loss of heterozygosity (LO...

Authors: Xueyun Huo, Dandan Feng, Shuangyue Zhang, Zhenkun Li, Xiaohong Li, Changlong Li, Meng Guo, Jin Wang, Zhongtao Zhang, Qingxian Lu, Xiaoyan Du, Zhigang Bai and Zhenwen Chen

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

It is estimated that 1–13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD...

Authors: Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire L. Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf T. Walker and Jane S. Lucas

Epigenome-wide association study detects a novel loci associated with central obesity in healthy subjects

Central obesity is a condition that poses a significant risk to global health and requires the employment of novel scientific methods for exploration. The objective of this study is to use DNA methylation anal...

Authors: Ting Xie, Vesna Gorenjak, Maria G. Stathopoulou, Sébastien Dadé, Eirini Marouli, Christine Masson, Helena Murray, John Lamont, Peter Fitzgerald, Panos Deloukas and Sophie Visvikis-Siest

Identification and validation of a novel immune-related signature associated with macrophages and CD8 T cell infiltration predicting overall survival for hepatocellular carcinoma

Although the effects of macrophages and CD8 T cell infiltration on clinical outcome have been widely reported, the association between immunity-associated gene with them for hepatocellular carcinoma (HCC) rema...

Authors: Junyu Huo, Liqun Wu and Yunjin Zang

Correction to: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

Authors: Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang and Joungsu Joo

Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation

The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder are sensorineural hearing loss and deficits of pigmentation in the skin, hair, and eye. Here, clinical features and detection of ...

Authors: Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Mohammad Keramatipour and Saeid Morovvati

Ethnicity-stratified analysis of the association between XRCC3 Thr241Met polymorphism and leukemia: an updated meta-analysis

Presently, whether X-ray repair cross complementing group 3 (XRCC3) Thr241Met polymorphism is correlated to leukemia risk remains controversial. Because of this reason, the objective of current study is to exp...

Authors: Zhengjun Xie, Wei Peng, Qiuhua Li, Wei Cheng and Xin Zhao

Niemann–Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene

Niemann–Pick disease type C (NPC) is an autosomal recessive, neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. Mutations in these genes are associated with abnormal endosomal–lysosom...

Authors: Imad Dweikat, Othman Thaher, Abdulrahman Abosleem, Almotazbellah Zeer and Ameer Abo Mokh

Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review

Microspherophakia (MSP, OMIM 251,750) is a rare inherited autosomal recessive eye disorder characterized by small spherically shaped lens. Several studies have indicated that the transforming growth factor-bet...

Authors: Manhua Xu, Kaiming Li and Weimin He

Lung disease network reveals impact of comorbidity on SARS-CoV-2 infection and opportunities of drug repurposing

Higher mortality of COVID-19 patients with lung disease is a formidable challenge for the health care system. Genetic association between COVID-19 and various lung disorders must be understood to comprehend th...

Authors: Asim Bikas Das

Mendelian randomization rules out the causal relationship between serum lipids and cholecystitis

The relationship between serum lipids and cholecystitis is still under investigation. To examine the causal effect of serum lipids on cholecystitis using the Mendelian randomization method.

Authors: Hongqun Yang, Lanlan Chen, Kaiyu Liu, Chengnan Li, Haitao Li, Kezhen Xiong, Zehan Li, Chuang Lu, Wei Chen and Yahui Liu

An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population

Gamma-aminobutyric acid type A (GABAA) receptors mainly mediate the effects of gamma-aminobutyric acid, which is the primary inhibitory neurotransmitter in the central nervous system. Abundant evidence suggest...

Authors: Sheue-Jane Hou, Shih-Jen Tsai, Po-Hsiu Kuo, Wan-Yu Lin, Yu-Li Liu, Albert C. Yang, Eugene Lin and Tsuo-Hung Lan

Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with neuronal cell inclusions composed of neurofilaments and other abnormal aggregative proteins as pathological hallmarks. Approx...

Authors: Feng Lin, Wanhui Lin, Chaofeng Zhu, Jilan Lin, Junge Zhu, Xu-Ying Li, Zhanjun Wang, Chaodong Wang and Huapin Huang

A missense variant rs2585405 in clock gene PER1 is associated with the increased risk of noise-induced hearing loss in a Chinese occupational population

To investigate the potential association of cochlear clock genes (CRY1, CRY2, PER1, and PER2), the DNF gene (brain-derived neurotrophic factor), and the NTF3 gene (neurotrophin3) with susceptivity to noise-induce...

Authors: Hao Chen, Xuexue Ding, Enmin Ding, Mengyao Chen, Huimin Wang, Guangzhi Yang and Baoli Zhu

The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population

Coronary heart disease (CHD) is the leading cause of human death worldwide. Genetic factors play an important role in the occurrence of CHD. Our study is designed to investigate the influence of CYP7B1 polymorphi...

Authors: Tiebiao Liang, Xianbo Zhang, Anshan Liang, Haiqing Wu, Qi Wang, Jun He, Ming Long and Tianbo Jin

Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy. This condition is caused by a mutation of OCRL gene (located at ...

Authors: Yu Zhang, Linxia Deng, Xiaohong Chen, Yingjie Hu, Yaxian Chen, Kang Chen and Jianhua Zhou

MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population

Schizophrenia (SCZ) is a severe mental illness with high heritability. This study aimed to explore the correlation between MAD1L1, TSNARE polymorphisms and SCZ susceptibility.

Authors: Xianglai Liu, Hailing Xie, Zejuan Fu, Qiankun Yao, Tianming Han, Dafei Zhan, Zhan Lin and Hong Zhu

Genomic analysis of circulating tumor cells in adenosquamous carcinoma of the prostate: a case report

Adenosquamous carcinoma of the prostate (ASCP) is an extremely rare and aggressive prostate cancer variant, whose genomic characteristics have not been elucidated. Although liquid biopsy of circulating tumor c...

Authors: Junji Kitamura, Satoru Taguchi, Takatsugu Okegawa, Kazuki Honda, Toshihiko Kii, Yoshihiro Tomida, Ryuki Matsumoto, Naoki Ninomiya, Kazuki Masuda, Yu Nakamura, Tsuyoshi Yamaguchi, Manami Kinjo, Mitsuhiro Tambo, Aya Isomura, Akimasa Hayashi, Hiroshi Kamma…

RNA sequencing of blood in coronary artery disease: involvement of regulatory T cell imbalance

Cardiovascular disease had a global prevalence of 523 million cases and 18.6 million deaths in 2019. The current standard for diagnosing coronary artery disease (CAD) is coronary angiography. Surprisingly, des...

Authors: Timothy A. McCaffrey, Ian Toma, Zhaoquing Yang, Richard Katz, Jonathan Reiner, Ramesh Mazhari, Palak Shah, Michael Tackett, Dan Jones, Tisha Jepson, Zachary Falk, Richard Wargodsky, Dmitry Shtakalo, Denis Antonets, Justin Ertle, Ju H. Kim…

Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report

A case of isolated growth hormone deficiency type IA (IGHD IA) caused by novel compound heterozygous mutation in the GH1 gene was reported in this study, which aimed to provide insights that will benefit future d...

Authors: Xi Yang, Mingming Yuan, Zhuoguang Li, Yanqin Ying, Ling Hou and Xiaoping Luo

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings

Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was t...

Authors: Yuanyuan Zhang, Xiaoliang Liu, Haiming Gao, Rong He, Guoming Chu and Yanyan Zhao

Detecting copy number variation in next generation sequencing data from diagnostic gene panels

Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. ...

Authors: Ashish Kumar Singh, Maren Fridtjofsen Olsen, Liss Anne Solberg Lavik, Trine Vold, Finn Drabløs and Wenche Sjursen

Multiple malignant tumors in a patient with familial chordoma, a case report

Chordoma is a rare bone tumor that is typically resistant to chemotherapy and is associated with genetic abnormalities of the T-box transcription factor T (TBXT) gene, which encodes the transcription factor brach...

Authors: Nuttavut Sumransub, Paari Murugan, Shelly Marette, Denis R. Clohisy and Keith M. Skubitz

Label propagation-based semi-supervised feature selection on decoding clinical phenotypes with RNA-seq data

Clinically, behavior, cognitive, and mental functions are affected during the neurodegenerative disease progression. To date, the molecular pathogenesis of these complex disease is still unclear. With the rapi...

Authors: Xue Jiang, Miao Chen, Weichen Song and Guan Ning Lin

Exome sequencing identifies novel and known mutations in families with intellectual disability

Intellectual disability (ID) is a phenotypically and genetically heterogeneous disorder.

Authors: Memoona Rasheed, Valeed Khan, Ricardo Harripaul, Maimoona Siddiqui, Madiha Amin Malik, Zahid Ullah, Muhammad Zahid, John B. Vincent and Muhammad Ansar

Integrative enrichment analysis of gene expression based on an artificial neuron

Huntington’s disease is a kind of chronic progressive neurodegenerative disease with complex pathogenic mechanisms. To data, the pathogenesis of Huntington’s disease is still not fully understood, and there ha...

Authors: Xue Jiang, Weihao Pan, Miao Chen, Weidi Wang, Weichen Song and Guan Ning Lin

Robust biomarker discovery for hepatocellular carcinoma from high-throughput data by multiple feature selection methods

Hepatocellular carcinoma (HCC) is one of the most common cancers. The discovery of specific genes severing as biomarkers is of paramount significance for cancer diagnosis and prognosis. The high-throughput omi...

Authors: Zishuang Zhang and Zhi-Ping Liu

Association of VEGF haplotypes with breast cancer risk in North-West Indians

Angiogenesis is a complex and coordinated process regulated by different growth factors and is one of the hallmark features of cancer. VEGF is one of the most important endothelial cell mitogen and has a criti...

Authors: Vasudha Sambyal, Kamlesh Guleria, Ruhi Kapahi, Mridu Manjari, Meena Sudan, Manjit Singh Uppal and Neeti Rajan Singh

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme

Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-l-fucosidase (FUCA1) activity, leading to the accumulation of fucose-containing glycolipids and glycoproteins in various t...

Authors: Latifa Chkioua, Yessine Amri, Chayma Saheli, Ferdawes Fenni, Hela Boudabous, Hadhami Ben Turkia, Taieb Messaoud, Neji Tebib and Sandrine Laradi

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

Pathogenic variants in POC1A led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism condition characterized by short stature, onychodysplasia, facial dysmorp...

Authors: Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang and Ruen Yao

Untargeted metabolomic approach to study the serum metabolites in women with polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is not only a kind of common endocrine syndrome but also a metabolic disorder, which harms the reproductive system and the whole body metabolism of the PCOS patients worldwide....

Authors: Ying Yu, Panli Tan, Zhenchao Zhuang, Zhejiong Wang, Linchao Zhu, Ruyi Qiu and Huaxi Xu

Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review

Schwannomas are neoplasms that typically arise from the myelin sheath of peripheral nerves and rarely originate within the brain parenchyma. Some case reports present schwannomas arising from the brainstem, bu...

Authors: Daiichiro Ishigami, Satoru Miyawaki, Hirofumi Nakatomi, Shunsaku Takayanagi, Yu Teranishi, Kenta Ohara, Hiroki Hongo, Shogo Dofuku, Taichi Kin, Hiroyuki Abe, Jun Mitsui, Daisuke Komura, Hiroto Katoh, Shumpei Ishikawa and Nobuhito Saito

Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

Ataxia-telangiectasia is a rare autosomal recessive, neurodegenerative disorder caused by alterations in the ATM gene. The majority of ATM pathogenic variants are frameshift or nonsense variants which are predict...

Authors: Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang and Joungsu Joo

Genetic basis of cannabis use: a systematic review

With the increase in cannabis use rates, cannabis use disorder is being reported as one of the most common drug use disorders globally. Cannabis use has several known physical, psychological, and social advers...

Authors: Alannah Hillmer, Caroul Chawar, Stephanie Sanger, Alessia D’Elia, Mehreen Butt, Raveena Kapoor, Flavio Kapczinski, Lehana Thabane and Zainab Samaan

Mediation role of body fat distribution (FD) on the relationship between CAV1 rs3807992 polymorphism and metabolic syndrome in overweight and obese women

Metabolic syndrome (MetS) is associated with an increased risk of morbidity and mortality in almost all chronic diseases. The most frequent methods for the calculation of a continuous MetS (cMetS) score have u...

Authors: Faezeh Abaj, Said Abdul Ghafour Saeedy and Khadijeh Mirzaei

A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report

Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly ...

Authors: Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang and Xiumin Wang

A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report

Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a n...

Authors: Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Shanling Liu and Jing Wang

Multi-factor regulatory network and different clusters in hypertrophic obstructive cardiomyopathy

Practical biosignatures and thorough understanding of regulatory processes of hypertrophic obstructive cardiomyopathy (HOCM) are still lacking.

Authors: Xianyu Qin, Lei Huang, Sicheng Chen, Shaoxian Chen, Pengju Wen, Yueheng Wu and Jian Zhuang