Academic Articles & Research Papers

Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation.

Abstracts from the 58(th) European Society of Human Genetics (ESHG) Conference: Hybrid Posters.

The spread of genomics.

Kinship estimation bias carries over to heritability estimation bias using variance components.

Automated wound care by employing a reliable U-Net architecture combined with ResNet feature encoders for monitoring chronic wounds

Quality of life is greatly affected by chronic wounds. It requires more intensive care than acute wounds. Schedule follow-up appointments with their doctor to track healing. Good wound treatment promotes healing and fewer problems. Wound ca...

A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review

Thrombocytopenia 2 (THC2) is one of the most prevalent forms of inherited thrombocytopenia. It is caused by a heterogeneous group of ANKRD26 gene mutation and shows a heterogeneous clinical and laboratory characteristics. We present a big C...

Heat Stress in Livestock: Impacts and Ameliorative Strategies—a Review

               Heat stress is one of the most important climatic conditions which adversely affects agricultural and livestock production worldwide. High ambient temperature with direct and indirect solar radiation, wind speed and relative ...

Breast Cancer and miR-SNPs: The Importance of miR Germ-Line Genetics

Recent studies in cancer diagnostics have identified microRNAs (miRNAs) as promising cancer biomarkers. Single nucleotide polymorphisms (SNPs) in miRNA binding sites, seed regions, and coding sequences can help predict breast cancer risk, a...

Progressive suppression of regulated cell death defines terminal macrophage states in liver cirrhosis

Background Macrophages are central regulators of liver immunity and fibrosis; Recent single-cell studies have characterized macrophage heterogeneity in cirrhosis; however, how regulated cell death programs shape their functional transitions...

Post-Fire Abundance Trajectories of Bird Species and Functional Groups Within an Atlantic–Mediterranean Ecotone

The Atlantic–Mediterranean ecotone of northwestern Iberia is one of the most fire-prone regions in Europe, yet post-fire avian dynamics there remain poorly documented. To characterise short- to mid-term post-fire avian trajectories in this ...

Identification and Functional Assessment of the First Placental Adhesin of Treponema pallidum That May Play Critical Role in Congenital Syphilis

Syphilis is a global, re-emerging sexually transmitted infection and congenital syphilis remains a major cause of adverse pregnancy outcomes due to bacterial infection in developing nations with a high rate of fetus loss. The molecular mech...

Generation of human induced pluripotent stem cell line MHHi040-A from a female Fabry disease patient carrying c.644A>G missense mutation

Fabry disease (FD) is an X-linked, monogenic lysosomal storage disorder, caused by mutations in the GLA gene. GLA encodes the lysosomal hydrolase alpha-galactosidase A and enzyme deficiency leads to accumulation of its substrate globotriaos...

Synergistic Effects of Resveratrol and Temozolomide Against Glioblastoma Cells: Underlying Mechanism and Therapeutic Implications

Yusi Liu, Xue Song, Moli Wu, Jiao Wu, Jia Liu Liaoning Laboratory of Cancer Genetics and Epigenetics and Department of Cell Biology, College of Basic Medical Sciences, Dalian Medical University, Dalian, People’s Republic of ChinaCorre...

Editorial: The neurogenetics of brain wiring

Research advances in Apert syndrome

Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures. There has been significant clinical variation among different sutural sy...

Assessment of Insert Sizes and Adapter Content in Fastq Data from NexteraXT Libraries

The Illumina NexteraXT transposon protocol is a cost effective way to generate paired end libraries. However the resulting insert size is highly sensitive to the concentration of DNA used, and the variation of insert sizes is often large. O...

A Comparative Analysis of the Chloroplast Genomes of Four Polygonum Medicinal Plants

Polygonum is a generalized genus of the Polygonaceae family that includes various herbaceous plants. In order to provide aid in understanding the evolutionary and phylogenetic relationship in Polygonum at the chloroplast (cp) genome-scale l...

Causal relationship between genetic-predicted uric acid and cervical cancer risk: evidence for nutritional intervention on cervical cancer prevention

IntroductionThe relationship between serum uric acid (SUA) and cervical cancer is inconclusive. This study aims to investigate the causal relationship between SUA levels and cervical cancer incidence, and to evaluate the potential role of n...

HumanViCe: Host ceRNA network in virus infected cells in human

Host-virus interaction via host cellular components has been an important field of research in recent times. RNA interference mediated by short interfering RNAs and microRNAs (miRNA), is a widespread anti-viral defence strategy. Importantly...

Effectiveness of Ultrasound Imaging in Assessing the Palpation Skills of Rotating Physicians

As an important means of physical examination, palpation is usually limited to the physical examination before surgery and used as an auxiliary method for disease diagnosis in the field of surgery. In practice, palpation is also used in eve...