Articles

RNA-Seq based transcriptome analysis in oral lichen planus

Oral lichen planus (OLP) is a T cell-mediated autoimmune disease recognized as an oral potential malignant disorder (OPMD) with the precise mechanism unknown. This study focused on the transcriptional profiles...

Authors: Haoyu Wang, Yiwen Deng, Siqi Peng, Li Yan, Hui Xu, Qingzhong Wang and Zhengyu Shen

Comprehensive characterization and clinical relevance of the SWI/SNF copy number aberrations across human cancers

Alterations in genes encoding chromatin regulatory proteins are prevalent in cancers and may confer oncogenic properties and molecular changes linked to therapy resistance. However, the impact of copy number a...

Authors: Zhiwei Xing, Buhuan Ma, Weiting Sun, Yimin Sun and Caixia Liu

Identification and validation of hub genes of synovial tissue for patients with osteoarthritis and rheumatoid arthritis

Osteoarthritis (OA) and rheumatoid arthritis (RA) were two major joint diseases with similar clinical phenotypes. This study aimed to determine the mechanistic similarities and differences between OA and RA by...

Authors: Yanzhi Ge, Zuxiang Chen, Yanbin Fu, Xiujuan Xiao, Haipeng Xu, Letian Shan, Peijian Tong and Li Zhou

The unidirectional phylogeny of Homo sapiens anchors the origin of modern humans in Eurasia

The Out of Africa hypothesis, OOAH, was challenged recently in an extended mtDNA analysis, PPA (Progressive Phylogenetic Analysis), that identified the African human populations as paraphyletic, a finding that...

Authors: Úlfur Árnason

Leopard syndrome: the potential cardiac defect underlying skin phenotypes

LEOPARD syndrome (OMIM #151,100) caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafe´-au-lait spots, electrocar...

Authors: Xiaojie Yue, Xiong Zhao, Yefeng Dai and Lan Yu.

Favorable function of Ectonucleoside triphosphate diphosphohydrolase 1 high expression in thyroid carcinoma

Ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1) has been proved to play a vital role in human cancers. Nevertheless, the exact role of ENTPD1 in thyroid carcinoma (THCA) remained unclear. This study ...

Authors: Jun-hua Luo, Yun-hua Zhu and Cheng Xiang

RNA sequencing analyses in infants patients with coarctation of the aorta

Coarctation of the aorta (CoA) is a serious innate heart disease. Although surgery results are generally good, some complications such as recoarctation and aortic aneurysm or persistent hypertension were serio...

Authors: Aijun Liu, Bin Li, Ming Yang, Yan Gu, Lihua Qi and Junwu Su

Dynamic co-expression modular network analysis in nonalcoholic fatty liver disease

Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease affecting people’s health worldwide. Exploring the potential biomarkers and dynamic networks during NAFLD progression is urgent...

Authors: Jing Zheng, Huizhong Wu, Zhiying Zhang and Songqiang Yao

Identification of glioblastoma immune subtypes and immune landscape based on a large cohort

Glioblastomas (GBM) are the most common primary brain malignancy and also the most aggressive one. In addition, GBM have to date poor treatment options. Therefore, understanding the GBM microenvironment may he...

Authors: Huiyuan Zhang and Ying Chen

Modulating the bicoid gradient in space and time

The formation of the Bicoid (Bcd) gradient in the early Drosophila is one of the most fascinating observations in biology and serves as a paradigm for gradient formation, yet its mechanism is still not fully unde...

Authors: Xiaoli Cai, Inge Rondeel and Stefan Baumgartner

Regulation of DNA methylation on key parasitism genes of Cysticercus cellulosae revealed by integrative epigenomic-transcriptomic analyses

The life cycle of Taenia solium is characterized by different stages of development, requiring various kinds of hosts that can appropriately harbor the eggs (proglottids), the oncospheres, the larvae and the adul...

Authors: Xinrui Wang, Weiyi Song, Guanyu Ji, Yining Song, Xiaolei Liu, Xuenong Luo, Mingyuan Liu and Shumin Sun

FBXW7 gene polymorphism is associated with type 2 diabetes in the Uygur population in Xinjiang, China

FBXW7 gene expression is positively correlated with glycolipid metabolism and is associated with diabetes in animal models. In the current study, we focused on exploring whether genetic variants of the FBXW7 g...

Authors: Shi-Qi Yan, Dilare Adi, Cheng Liu, Meng-Meng Wang, Jialin Abuzhalihana, Yun Wu, Zhen-Yan Fu, Yi-Ning Yang, Xiao-Mei Li, Xiang Xie, Fen Liu, Bang-Dang Chen and Yi-Tong Ma

Identification and characterization of miRNAs associated with sterile flower buds in the tea plant based on small RNA sequencing

miRNAs are a type of conserved, small RNA molecule that regulate gene expression and play an important role in the growth and development of plants. miRNAs are involved in seed germination, root development, s...

Authors: Hao Qu, Yue Liu, Huibing Jiang, Yufei Liu, Weixi Song and Linbo Chen

Bioinformatics analysis of differentially expressed genes and identification of an miRNA–mRNA network associated with entorhinal cortex and hippocampus in Alzheimer’s disease

Alzheimer’s disease (AD) is a fatal neurodegenerative disorder, and the lesions originate in the entorhinal cortex (EC) and hippocampus (HIP) at the early stage of AD progression. Gaining insight into the mole...

Authors: Haoming Li, Linqing Zou, Jinhong Shi and Xiao Han

Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population

Human skin color is highly heritable and one of the most variable phenotypic traits. However, the genetic causes and environmental selective pressures underlying this phenotypic variation have remained largely...

Authors: Yuxin Wang

Identification of potential biomarkers for pathogenesis of Alzheimer’s disease

Alzheimer’s disease (AD) is an extremely complicated neurodegenerative disorder, which accounts for almost 80 % of all dementia diagnoses. Due to the limited treatment efficacy, it is imperative for AD patient...

Authors: Huimin Wang, Xiujiang Han and Sheng Gao

RTP4 is a novel prognosis-related hub gene in cutaneous melanoma

Melanoma accounts for 80% of skin cancer deaths. The pathogenesis of melanoma is regulated by gene networks. Thus, we aimed here to identify gene networks and hub genes associated with melanoma and to further ...

Authors: Yiqi Li, Jue Qi and Jiankang Yang

Network analysis of potential risk genes for psoriasis

Psoriasis is a complex chronic inflammatory skin disease. The aim of this study was to analyze potential risk genes and molecular mechanisms associated with psoriasis.

Authors: Huilin Wang, Wenjun Chen, Jin He, Wenjuan Xu and Jiangwei Liu

An Axin2 mutation and perinatal risk factors contribute to sagittal craniosynostosis: evidence from a Chinese female monochorionic diamniotic twin family

Craniosynostosis, defined as premature fusion of one or more cranial sutures, affects approximately 1 in every 2000–2500 live births. Sagittal craniosynostosis (CS), the most prevalent form of isolated cranios...

Authors: Jin Xu, Qing Yan, Chengcheng Song, Jingjia Liang, Liang Zhao, Xin Zhang, Zhenkun Weng, Cheng Xu, Qian Liu, Shuqin Xu, Lu Pang, Liye Zhang, Yuan Sun, Gang Wang and Aihua Gu

Correction to: Genetic polymorphism of IDOL gene was associated with the susceptibility of coronary artery disease in Han population in Xinjiang, China

Authors: Dilare Adi, Jialin Abuzhalihan, Jing Tao, Yun Wu, Ying-Hong Wang, Fen Liu, Yi-Ning Yang, Xiang Ma, Xiao-Mei Li, Xiang Xie, Zhen-Yan Fu and Yi-Tong Ma

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway

CLOVES syndrome (OMIM# 612918) is a rare overgrowth disorder resulted from mosaic gain-of-function mutations in the PIK3CA gene. All the reported CLOVES-associated PIK3CA mutations are missense mutations affectin...

Authors: Wei Yan, Bin Zhang, Huijun Wang, Ran Mo, Xingyuan Jiang, Wen Qin, Lin Ma and Zhimiao Lin

Up-regulated RFC2 predicts unfavorable progression in hepatocellular carcinoma

Replication factor C (RFC) is closely related to tumor progression and metastasis. However, the functional significance of RFC2 in hepatocellular carcinoma remains unclear.

Authors: Zaixiong Ji, Jiaqi Li and Jianbo Wang

Association between CCN1 gene polymorphism and acute coronary syndrome in Chinese Han and Uygur populations

CCN1 plays a crucial role in the modulation of cardiovascular diseases. However, whether CCN1 genetic variants are involved in the susceptibility of ACS remains unknown. Hence, the present study investigates the ...

Authors: Yan-Hong Li, Jun-Yi Luo, Bin-Bin Fang, Guo-Li Du, Ting Tian, Fen Liu, Xiao-Mei Li and Yi-Ning Yang

Prognostic biomarkers and therapeutic targets in oral squamous cell carcinoma: a study based on cross-database analysis

Oral squamous cell carcinoma (OSCC) is a malignant cancer, the survival rate of patients is disappointing. Therefore, it is necessary to identify the driven-genes and prognostic biomarkers in OSCC.

Authors: Wanli Yang, Wei Zhou, Xinhui Zhao, Xiaoqian Wang, Lili Duan, Yiding Li, Liaoran Niu, Junfeng Chen, Yujie Zhang, Yu Han, Daiming Fan and Liu Hong

Identification of metabolism genes related to hepatocarcinogenesis and progression in type 2 diabetes mellitus via co-expression networks analysis

Type 2 Diabetes Mellitus (T2DM) is an independent risk factor of hepatocellular carcinoma (HCC). However, the related genes and modules to hepatocarcinogenesis and progression in T2DM remain unclear.

Authors: Yiming Bi, Bei Yin and Guanjie Fan

Bioinformatic analysis identifies potential biomarkers and therapeutic targets of septic-shock-associated acute kidney injury

Sepsis and septic shock are life-threatening diseases with high mortality rate in intensive care unit (ICU). Acute kidney injury (AKI) is a common complication of sepsis, and its occurrence is a poor prognosti...

Authors: Yun Tang, Xiaobo Yang, Huaqing Shu, Yuan Yu, Shangwen Pan, Jiqian Xu and You Shang

Genetic polymorphism of IDOL gene was associated with the susceptibility of coronary artery disease in Han population in Xinjiang, China

Coronary artery disease (CAD) is the leading cause of death worldwide. In this study, we aimed to explore whether some genetic variants of the human IDOL gene were associated with CAD among Chinese population ...

Authors: Dilare Adi, Jialin Abuzhalihan, Jing Tao, Yun Wu, Ying-Hong Wang, Fen Liu, Yi-Ning Yang, Xiang Ma, Xiao-Mei Li, Xiang Xie, Zhen-Yan Fu and Yi-Tong Ma

Nucleo-cytoplasmic shuttling of murine RBPJ by Hairless protein matches that of Su(H) protein in the model system Drosophila melanogaster

CSL transcription factors are central to signal transduction in the highly conserved Notch signaling pathway. CSL acts as a molecular switch: depending on the cofactors recruited, CSL induces either activation...

Authors: Dorina B. Wolf, Dieter Maier and Anja C. Nagel

Performance comparison of four types of target enrichment baits for exome DNA sequencing

Next-generation sequencing technology is developing rapidly and target capture sequencing has become an important technique. Several different platforms for library preparation and target capture with differen...

Authors: Juan Zhou, Mancang Zhang, Xiaoqi Li, Zhuo Wang, Dun Pan and Yongyong Shi

Development and analysis of long non-coding RNA-associated competing endogenous RNA network for osteosarcoma metastasis

Osteosarcoma is the primary bone malignant neoplasm that often develops metastasis. Increasing evidences have shown that non-coding RNAs (ncRNAs) relate to the progression of osteosarcoma. However, the ncRNAs’...

Authors: Yucheng Fu, Qi Liu, Qiyuan Bao, Junxiang Wen, Zhuochao Liu, Yuehao Hu, Guoyu He, Cheng Peng, Yiqi Xu and Weibin Zhang

Correction to: A century of Hereditas: from local publication to international journal

An amendment to this paper has been published and can be accessed via the original article.

Authors: Anna Tunlid, Ulf Kristoffersson and Fredrik Åström

PeakMatcher facilitates updated Aedes aegypti embryonic cis-regulatory element map

The Aedes aegypti mosquito is a threat to human health across the globe. The A. aegypti genome was recently re-sequenced and re-assembled. Due to a combination of long-read PacBio and Hi-C sequencing, the AaegL5 ...

Authors: Ronald J. Nowling, Susanta K. Behura, Marc S. Halfon, Scott J. Emrich and Molly Duman-Scheel

A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome

Marfan syndrome (MFS) is one of the most common hereditary connective tissue diseases, with great individual heterogeneity. We reported a Chinese pregnancy with Clinical diagnosis of MFS, performed whole-exome...

Authors: Yuduo Wu, Hairui Sun, Yihua He and Hongjia Zhang

Identification of differentially expressed genes, signaling pathways and immune infiltration in rheumatoid arthritis by integrated bioinformatics analysis

The disability rate associated with rheumatoid arthritis (RA) ranks high among inflammatory joint diseases. However, the cause and potential molecular events are as yet not clear. Here, we aimed to identify di...

Authors: Yanzhi Ge, Li Zhou, Zuxiang Chen, Yingying Mao, Ting Li, Peijian Tong and Letian Shan

Mediators of SARS-CoV-2 entry are preferentially enriched in cardiomyocytes

The coronavirus disease 2019 (COVID-19) has spread rapidly around the world. In addition to common respiratory symptoms such as cough and fever, some patients also have cardiac injury, however, the mechanism o...

Authors: Jing Yang, Tan Chen and Yafeng Zhou

IFI27 may predict and evaluate the severity of respiratory syncytial virus infection in preterm infants

Preterm infants are a special population that vulnerable to respiratory syncytial virus (RSV) infection and the lower respiratory tract infections (LRTIs) caused by RSV could be severe and even life-threating....

Authors: Junyan Gao, Xueping Zhu, Mingfu Wu, Lijun Jiang, Fudong Wang and Shan He

Immunological analysis and differential genes screening of venous thromboembolism

To explore the pathogenesis of venous thromboembolism (VTE) and provide bioinformatics basis for the prevention and treatment of VTE.

Authors: Li-Na Gao, Qiang Li, Jian-Qin Xie, Wan-Xia Yang and Chong-Ge You

Defining muscle-invasive bladder cancer immunotypes by introducing tumor mutation burden, CD8+ T cells, and molecular subtypes

Immunotherapy, especially anti-PD-1, is becoming a pillar of modern muscle-invasive bladder cancer (MIBC) treatment. However, the objective response rates (ORR) are relatively low due to the lack of precise bi...

Authors: Zihao Chen, Guojun Liu, Guoqing Liu, Mikhail A. Bolkov, Khyber Shinwari, Irina A. Tuzankina, Valery A. Chereshnev and Zhifeng Wang

The reversal of human phylogeny: Homo left Africa as erectus, came back as sapiens sapiens

The molecular out of Africa hypothesis, OOAH, has been considered as an established fact amid population geneticists for some 25–30 years despite the early concern with it among phylogeneticists with experienc...

Authors: Úlfur Árnason and Björn Hallström

A century of Hereditas: from local publication to international journal

The Mendelian Society of Lund launched Hereditas in 1920. The purpose of this article is to give an overview of Hereditas’s hundred-year existence, focusing on the conditions for a learned society to publish a sc...

Authors: Anna Tunlid, Ulf Kristoffersson and Fredrik Åström

Population genomics of East Asian ethnic groups

East Asia constitutes one-fifth of the global population and exhibits substantial genetic diversity. However, genetic investigations on populations in this region have been largely under-represented compared w...

Authors: Ziqing Pan and Shuhua Xu

Race biology

The founders of Hereditas envisioned that race biology would be a major subject that had social applications with utmost importance in the near future. Anthropometrics was in this context understood to be the ...

Authors: Anssi Saura

Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss

Mutations in HARS2 are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of HAR...

Authors: Jing Yu, Wei Jiang, Li Cao, Xiaoxue Na and Jiyun Yang

The homeodomain transcription factor Orthopedia is involved in development of the Drosophila hindgut

The Drosophila hindgut is commonly used model for studying various aspects of organogenesis like primordium establishment, further specification, patterning, and morphogenesis. During embryonic development of Dro...

Authors: Kirsten Hildebrandt, Nicole Bach, Dieter Kolb and Uwe Walldorf

The centenary of Hereditas - almost a fairytale

This is the Editorial for a series of articles illuminating the history and success story of Hereditas, one of the oldest journals in the area of genetics. For this reason, we invite you to read this special s...

Authors: Yongyong Shi and Stefan Baumgartner

Göte Turesson’s research legacy to Hereditas: from the ecotype concept in plants to the analysis of landraces’ diversity in crops

Hereditas began with articles on plants since its first issue in May 1920 (six out of eight) and continued with more original articles (43% of the total of this journal) on plants (of which 72% of those in plants...

Authors: Rodomiro Ortiz

Exploring the mRNA expression level of RELN in peripheral blood of schizophrenia patients before and after antipsychotic treatment

The Reelin (RELN) gene encodes the protein reelin, which is a large extracellular matrix glycoprotein that plays a key role in brain development. Additionally, this protein may be involved in memory formation, ne...

Authors: Jiajun Yin, Yana Lu, Shui Yu, Zhanzhan Dai, Fuquan Zhang and Jianmin Yuan

Weighted gene co-expression network analysis revealed key biomarkers associated with the diagnosis of hypertrophic cardiomyopathy

To reveal the molecular mechanism underlying the pathogenesis of HCM and find new effective therapeutic strategies using a systematic biological approach.

Authors: Xin Li, Chenxin Wang, Xiaoqing Zhang, Jiali Liu, Yu Wang, Chunpu Li and Dongmei Guo

Enhancer of mRNA Decapping protein 4 (EDC4) interacts with replication protein a (RPA) and contributes to Cisplatin resistance in cervical Cancer by alleviating DNA damage

Cervical cancer (CC) is the third most common gynecological malignancy around the world. Cisplatin is an effective drug, but cisplatin resistance is a vital factor limiting the clinical usage of cisplatin. Enh...

Authors: Xiaoling Wu, Youwen Zhong, Qing Chen, Xin Zhang and Hua Zhang

Genetic diversity of avocado from the southern highlands of Tanzania as revealed by microsatellite markers

Avocado is an important cash crop in Tanzania, however its genetic diversity is not thoroughly investigated. This study was undertaken to explore the genetic diversity of avocado in the southern highlands usin...

Authors: Ibrahim Juma, Mulatu Geleta, Agnes Nyomora, Ganapathi Varma Saripella, Helena Persson Hovmalm, Anders S. Carlsson, Moneim Fatih and Rodomiro Ortiz