journal
https://read.qxmd.com/read/38609674/correction-to-the-effect-of-library-preparation-protocol-on-the-efficiency-of-heteroplasmy-detection-in-mitochondrial-dna-using-two-massively-parallel-sequencing-illumina-systems
#1
Patrycja Daca-Roszak, Joanna Fiedorowicz, Maciej Jankowski, Marzanna Ciesielka, Grzegorz Teresiński, Beata Lipska-Ziętkiewicz, Ewa Ziętkiewicz, Tomasz Grzybowski, Katarzyna Skonieczna
No abstract text is available yet for this article.
April 13, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38607498/correction-to-novel-dna-methylation-biomarkers-for-early-diagnosis-of-oral-tongue-squamous-cell-carcinoma-otscc
#2
Hayat Ali Abdullah Alafaria, Areej Saud Jalal
No abstract text is available yet for this article.
April 12, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38587611/genetic-dissection-of-green-pod-yield-in-dolichos-bean-an-orphan-vegetable-legume-using-new-molecular-markers
#3
JOURNAL ARTICLE
Vinayak Spoorthi, Sampangi Ramesh, Nagenahalli Chandrappa Sunitha, Vedashree, Panichayil Vijayakumar Vaijayanthi, Chandrappa Anilkumar
In the era of genomic-assisted breeding for crop improvement, developing new molecular markers and validating them for use in breeding programs are the prelude. Dolichos bean is one of the most important vegetable legume crops owing to its nutrient-rich green pods used as vegetables. Limitations in genomic resources, including molecular markers, restrict the accelerated improvement of the crop. In the present investigation, a set of 430 new simple sequence repeat markers was developed from sequence information of a reference variety...
April 8, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38570427/comparing-bayesian-models-for-the-genetic-evaluation-of-oocytes-and-embryo-counts-in-dairy-gir-cattle
#4
JOURNAL ARTICLE
Giovani Luis Feltes, Gabriel Soares Campos, Fernanda Santos Silva Raidan, Luiz Fernando Rodrigues Feres, Virgínia Mara Pereira Ribeiro, Jaime Araújo Cobuci
Count traits are usually explored in livestock breeding programs, and they usually do not fit into normal distribution, requiring alternatives to adjust the phenotype to estimate accurate genetic parameters and breeding values. Alternatively, distribution such as Poisson can be used to evaluate count traits. This study aimed to compare and discuss the genetic evaluation for oocyte and embryo counts considering Gaussian (untransformed variable - LIN; transformed by logarithm - LOG; transformed by Anscombe - ANS) and Poisson (POI) distributions...
April 4, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38568414/the-use-of-snp-markers-for-cattle-breed-identification
#5
JOURNAL ARTICLE
Igor Jasielczuk, Artur Gurgul, Tomasz Szmatoła, Anna Radko, Anna Majewska, Ewa Sosin, Zygmunt Litwińczuk, Dominika Rubiś, Tomasz Ząbek
A potential application of single nucleotide polymorphisms (SNPs) in animal husbandry and production is identification of the animal breed. In this study, using chosen marker selection methods and genotypic data obtained with the use of Illumina Bovine SNP50 BeadChip for individuals belonging to ten cattle breeds, the reduced panels containing the most informative SNP markers were developed. The suitability of selected SNP panels for the effective and reliable assignment of the studied individuals to the breed of origin was checked by three allocation algorithms implemented in GeneClass 2...
April 3, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38568413/znf26-associated-genes-as-prognostic-signatures-in-colorectal-cancer-with-broad-therapeutic-implications
#6
JOURNAL ARTICLE
Xue Lei, Lijia Zhang, Ye Liu, Heng Sun, Jun Yan, Songjiang Liu
The identification of biomarkers correlated with colorectal cancer (CRC) prognosis holds substantial importance from both clinical and scientific perspectives. Zinc finger protein 26 (ZNF26) has not been previously investigated or documented in solid tumors; thus, further research is necessary to ascertain its prognostic value in CRC. Gene expression profiles and clinicopathological data were acquired from The Cancer Genome Atlas (TCGA) database. Subsequently, expression correlation was assessed utilizing the TCGA CRC cohort...
April 3, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38558174/correction-to-unjustly-forgotten-scientist-wac%C3%A5-aw-mayzel-1847-1916-co%C3%A2-discoverer-of-somatic-mitosis
#7
Janusz Limon, Ewa Bartnik, Janusz Komender
No abstract text is available yet for this article.
April 1, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38551768/investigation-of-mutation-spectrum-amongst-patients-with-familial-primary-cardiomyopathy-using-targeted-ngs-in-indian-population
#8
JOURNAL ARTICLE
Saroja Mysore Krishnaswamy, Gautham Arunachal, Kumar Gautam Singh, Viji Samuel Thomson, Paul George, Sudha Rao, Sumita Danda
Genetic cardiomyopathies (CM) are disorders that affect morphology and function of cardiac muscle. Significant number of genes have been implicated in causing the phenotype. It is one of the leading genetic causes of death in young. We performed a study to understand the genetic variants in primary cardiomyopathies in an Indian cohort. Study comprised of 22 probands (13 with family history) representing hypertrophic (n = 10), dilated (n = 7), restrictive (n = 2) and arrhythmogenic ventricular(n = 3) cardiomyopathies...
March 29, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38539022/long-non-coding-rna-variability-in-porcine-skeletal-muscle
#9
JOURNAL ARTICLE
Bartłomiej Hofman, Joanna Szyda, Magdalena Frąszczak, Magda Mielczarek
Recently, numerous studies including various tissues have been carried out on long non-coding RNAs (lncRNAs), but still, its variability has not yet been fully understood. In this study, we characterised the inter-individual variability of lncRNAs in pigs, in the context of number, length and expression. Transcriptomes collected from muscle tissue belonging to six Polish Landrace boars (PL1-PL6), including half-brothers (PL1-PL3), were investigated using bioinformatics (lncRNA identification and functional analysis) and statistical (lncRNA variability) methods...
March 27, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38528244/exploring-genomic-inbreeding-and-selection-signatures-in-a-commercial-brangus-herd-through-functional-annotation
#10
JOURNAL ARTICLE
Gabriel A Zayas, Eduardo E Rodriguez, Aakilah S Hernandez, Fernanda M Rezende, Raluca G Mateescu
Composite breeds, including Brangus, are widely utilized in subtropical and tropical regions to harness the advantages of both Bos t. taurus and Bos t. indicus breeds. The formation and subsequent selection of composite breeds may result in discernible signatures of selection and shifts in genomic population structure. The objectives of this study were to 1) assess genomic inbreeding, 2) identify signatures of selection, 3) assign functional roles to these signatures in a commercial Brangus herd, and 4) contrast signatures of selection between selected and non-selected cattle from the same year...
March 25, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38523169/correction-to-novel-foxp2-variant-associated-with-speech-and-language-dysfunction-in-a-chinese-family-and-literature-review
#11
Fengyu Che, Chenhao Li, Liyu Zhang, Chenxi Qian, Lidangzhi Mo, Benchang Li, Haibin Wu, Lifang Wang, Ying Yang
No abstract text is available yet for this article.
March 25, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38514586/in-silico-approach-for-the-identification-of-trna-derived-small-non-coding-rnas-in-sars-cov-infection
#12
JOURNAL ARTICLE
Swati Ajmeriya, Deepak Ramkumar Bharti, Amit Kumar, Shweta Rana, Harpreet Singh, Subhradip Karmakar
tsRNAs (tRNA-derived small non-coding RNAs), including tRNA halves (tiRNAs) and tRNA fragments (tRFs), have been implicated in some viral infections, such as respiratory viral infections. However, their involvement in SARS-CoV infection is completely unknown. A comprehensive analysis was performed to determine tsRNA populations in a mouse model of SARS-CoV-infected samples containing the wild-type and attenuated viruses. Data from the Gene Expression Omnibus (GEO) dataset at NCBI (accession ID GSE90624 ) was used for this study...
March 21, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38478327/blood-based-microrna-profiling-unveils-complex-molecular-dynamics-in-breast-cancer
#13
JOURNAL ARTICLE
Mudassar Shahid, Rabbani Syed, M A Ansari, Gowher Shafi, James John
BACKGROUND: Breast cancer, a genetically intricate disease with diverse subtypes, exhibits heightened incidence globally. In this study, we aimed to investigate blood-based microRNAs (miRNAs) as potential biomarkers for breast cancer. The primary objectives were to explore the role of miRNAs in cancer-related processes, assess their differential expression between breast cancer patients and healthy individuals, and contribute to a deeper understanding of the molecular underpinnings of breast cancer...
March 13, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38478326/integrative-analysis-of-homologous-recombination-repair-patterns-unveils-prognostic-signatures-and-immunotherapeutic-insights-in-breast-cancer
#14
JOURNAL ARTICLE
Yan-Shuang Li, Hong-Chuan Jiang
Globally, breast cancer (BC) is the leading cause of female death and morbidity. Homologous recombination repair (HRR) is critical in BC. However, the prognostic role and immunotherapy response of HRR in BC remains to be clarified. Firstly, we identified HRR types in BC samples from the Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) dataset (GSE42568) based on 65 HRR genes (HRRGs). A differentially expressed gene (DEG) list for different HRR types was generated. Then, the influences of gene sets composed of these DEGs on biological pathways and BC prognosis were explored...
March 13, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38459407/gene-edited-cells-novel-allogeneic-gene-cell-therapy-for-epidermolysis-bullosa
#15
REVIEW
Fatemeh Gila, Vahab Alamdari-Palangi, Maedeh Rafiee, Arezoo Jokar, Sajad Ehtiaty, Aria Dianatinasab, Seyyed Hossein Khatami, Mortaza Taheri-Anganeh, Ahmad Movahedpour, Jafar Fallahi
Epidermolysis bullosa (EB) is a group of rare genetic skin fragility disorders, which are hereditary. These disorders are associated with mutations in at least 16 genes that encode components of the epidermal adhesion complex. Currently, there are no effective treatments for this disorder. All current treatment approaches focus on topical treatments to prevent complications and infections. In recent years, significant progress has been achieved in the treatment of the severe genetic skin blistering condition known as EB through preclinical and clinical advancements...
March 9, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38443694/transcriptome-profiling-and-metabolic-pathway-analysis-towards-reliable-biomarker-discovery-in-early-stage-lung-cancer
#16
JOURNAL ARTICLE
Muthu Kumar Thirunavukkarasu, Priyanka Ramesh, Ramanathan Karuppasamy, Shanthi Veerappapillai
Earlier diagnosis of lung cancer is crucial for reducing mortality and morbidity in high-risk patients. Liquid biopsy is a critical technique for detecting the cancer earlier and tracking the treatment outcomes. However, noninvasive biomarkers are desperately needed due to the lack of therapeutic sensitivity and early-stage diagnosis. Therefore, we have utilized transcriptomic profiling of early-stage lung cancer patients to discover promising biomarkers and their associated metabolic functions. Initially, PCA highlights the diversity level of gene expression in three stages of lung cancer samples...
March 5, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38441798/identification-and-validation-of-a-novel-nine-gene-prognostic-signature-of-stem-cell-characteristic-in-hepatocellular-carcinoma
#17
JOURNAL ARTICLE
Yahang An, Weifeng Liu, Yanhui Yang, Zhijie Chu, Junjun Sun
Currently, cancer stem cells (CSCs) are regarded as the most promising target for cancer therapy due to their close association with tumor resistance, invasion, and recurrence. Thus, identifying CSCs-related genes and constructing a prognostic risk model associated with CSCs may be crucial for hepatocellular carcinoma (HCC) therapy. Xena Browser was used to download gene expression profiles and clinical data, while MSigDB was used to obtain genes associated with CSCs. Firstly, the non-negative matrix factorization (NMF) algorithm was used to cluster the HCC samples based on CSCs-related genes...
March 5, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38438717/novel-dna-methylation-biomarkers-for-early-diagnosis-of-oral-tongue-squamous-cell-carcinoma-otscc
#18
JOURNAL ARTICLE
Hayat Ali Abdullah Alafaria, Areej Saud Jalal
Oral tongue squamous cell carcinoma (OTSCC) is the most common malignancy type among males across the world. However, analysis of molecular markers could be useful in detecting the early-stage OTSCC, which would allow optimal clinical treatments and prolong the survival rate of patients consequently. The study has the objective of detecting the role of salivary biomarkers based on gene promoter hypermethylation. Sample data from 45 OTSCC and normal groups were analyzed to exhibit the methylation levels of salivary biomarkers (TRH, FHIT, MGMT, p16, and RASSF1A)...
March 5, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38421592/single-cell-integrated-transcriptomics-reveals-the-role-of-keratinocytes-in-head-and-neck-squamous-cell-carcinoma
#19
JOURNAL ARTICLE
Shaokun Liu, Meng Lian, Boxuan Han, Jugao Fang, Zhenlin Wang
Head and neck squamous cell carcinoma (HNSCC) is a prevalent malignant tumor with significant morbidity and mortality. Understanding the molecular mechanisms of HNSCC and identifying prognostic markers and therapeutic targets are crucial for improving patient outcomes. In this study, we utilized single-cell RNA sequencing (scRNA-seq) and bulk RNA-seq data to comprehensively analyze HNSCC at the cellular level. We identified keratinocytes as the predominant cell type in tumor samples, suggesting their potential role in HNSCC development...
February 29, 2024: Journal of Applied Genetics
https://read.qxmd.com/read/38418803/novel-foxp2-variant-associated-with-speech-and-language-dysfunction-in-a-chinese-family-and-literature-review
#20
JOURNAL ARTICLE
Fengyu Che, Chenhao Li, Liyu Zhang, Chenxi Qian, Lidangzhi Mo, Benchang Li, Haibin Wu, Lifang Wang, Ying Yang
Since its initial identification, the Forkhead Box P2 gene (FOXP2) has maintained its singular status as the archetypal monogenic determinant implicated in Mendelian forms of human speech and language impairments. Despite the passage of two decades subsequent to its discovery, extant literature remains disproportionately sparse with regard to case-specific instances and loci of mutational perturbations. The objective of the current investigation centers on furnishing an enriched delineation of both its clinical manifestations and its mutational heterogeneity...
February 28, 2024: Journal of Applied Genetics
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