Novel frameshift variant of WNT10A in a Japanese patient with hypodontia by Michiyo Ando, Yoshihiko Aoki, Yasuto Sano, Junya Adachi, Masatoshi Sana, Satoru Miyabe, Satoshi Watanabe, Shogo Hasegawa, Hitoshi Miyachi, Junichiro Machida, Mitsuo Goto, Yoshihito Tokita

“…Here, we investigated the genetic causes of sporadic congenital tooth agenesis. Exome sequencing, followed by Sanger sequencing, identified a novel single-nucleotide deletion in WNT10A (NC_000002.12(NM_025216.3):c.802del), which was not found in the healthy parents of the patient. …”
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Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency by Piotr K. Janicki, Sonia Vaida, Hamid A. B. AL-Mondhiry

“…The present study investigated the genetic defects underlying severe Factor V deficiency in a 26-year-old Columbian (South America) female and her immediate family (both parents and newborn child) by next generation sequencing (NGS) of the entire gene locus. Five mutations in the coding sequence of , including three missense single-nucleotide variants (R2102H, R513K, D107H) and two synonymous variants (A135A , S184S), were identified and confirmed by the Sanger sequencing in the investigated proband (homozygote for all detected mutations), her parents, and her newborn child (all heterozygotic carriers for identified mutations). …”
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Genome-Wide Approach Identifies Natural Large-Fragment Deletion in ASFV Strains Circulating in Italy During 2023 by Claudia Torresi, Roberta Biccheri, Cesare Cammà, Carmina Gallardo, Maurilia Marcacci, Simona Zoppi, Barbara Secondini, Caterina Riverso, Alejandro Soler, Cristina Casciari, Michela Pela, Elisabetta Rossi, Claudia Pellegrini, Carmen Iscaro, Francesco Feliziani, Monica Giammarioli

“…Complete genomic sequencing of 30 strains revealed large-fragment deletions and translocations. …”
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Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma by CAO Yuanyuan, YUAN Zhaojun, JIN Chuanyang, WANG Tianzi, LIAO Xiaojie, LIU Hong

“…Whole exome high-throughput sequencing was used to identify the pathogenic mutation, and Sanger sequencing was applied to verify the mutation site. …”
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Crop pangenomes by A. Yu. Pronozin, M. K. Bragina, E. A. Salina

“…Progress in genome sequencing, assembly and analysis allows for a deeper study of agricultural plants’ chromosome structures, gene identif ication and annotation. …”
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Molecular Characterization of Antibiotic Resistance and Genetic Diversity of Klebsiella pneumoniae Strains by Bahareh Arabzadeh, Zeynab Ahmadi, Reza Ranjbar

“…PCR was used to amplify the gyrA gene in quinolone-resistant isolates and sequencing was performed for the detection of probable mutations between the isolates. …”
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Paving the Way for Speech: Voice-Training-Induced Plasticity in Chronic Aphasia and Apraxia of Speech—Three Single Cases by Monika Jungblut, Walter Huber, Christiane Mais, Ralph Schnitker

“…Difficulties with temporal coordination or sequencing of speech movements are frequently reported in aphasia patients with concomitant apraxia of speech (AOS). …”
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A Comprehensive Methodological Review of Major Developments in Bioinformatics Pipelines for Transcriptomic Data Analysis by Awais ALi, Syed Luqman Ali, Abdelkarem Omneya

“…Background: Recent advances in transcriptomics have provided new insights to analyze a wide range of biological data. RNA sequencing (RNA-Seq) is a common method used to study the complete set of RNA molecules (the transcriptome) in different cell types, genetic backgrounds, and environments. …”
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The Correlation between Gut Microbiota and Serum Metabolomic in Elderly Patients with Chronic Heart Failure by Zhenhua Wang, Zhaoling Cai, Markus W. Ferrari, Yilong Liu, Chengyi Li, Tianzhang Zhang, Guorong Lyu

“…The expression of inflammatory factors in blood was detected by ELISA. 16S rDNA sequencing was used to analyze the changes in microorganisms in the samples. …”
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Vitamin D Receptor Gene Polymorphisms Influence T1D Susceptibility among Pakistanis by Maryam Mukhtar, Andleeb Batool, Abdul Wajid, Iram Qayyum

“…Genotypes were identified by DNA sequencing and PCR-RFLP. Results. The allelic and genotypic frequencies of FokΙ and ApaI were significantly associated with T1D (p<0.001) development. …”
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Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy by Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar

“…While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses. …”
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DNA alterations in ovarian adult granulosa cell tumours: A scoping review protocol. by Sven Karstensen, Karsten Kaiser, Caroline Moos, Tim Svenstrup Poulsen, Kirsten Jochumsen, Claus Høgdall, Finn Lauszus, Estrid Høgdall

“…<h4>Background</h4>Identifying and describing molecular alterations in tumors has become common with the development of high-throughput sequencing. However, DNA sequencing in rare tumors, such as ovarian adult granulosa cell tumor (aGCT), often lacks statistical power due to the limited number of cases in each study. …”
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Recently Delisted Songbird Harbors Extensive Genomic Evidence of Inbreeding, Potentially Complicating Future Recovery by Anna María Calderón, Andrew W. Wood, Zachary A. Szpiech, David P. L. Toews

“…We used whole‐genome sequencing to characterize the distribution of runs of homozygosity and deleterious genetic variation. …”
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Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract by Hui Dang, Min Peng, Weiyue Gu, Gang Ding, Yuqin Sun, Zhongkai Hao, Ning Wei, Xu Wang, Chenming Zhang, Aijun Deng

“…Genetic test was performed on the blood samples of the fourth family generation (23 people) via whole exome sequencing (trio-WES) and Sanger sequencing. Results. …”
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Blue light promotes conjunctival epithelial-mesenchymal transition and collagen deposition through ITGB4 by Qianjie Yang, Kuangqi Chen, Siyi Chen, Yinhao Wang, Yutong Xia, Jinbo Chen, Ye Shen

“…BL disrupted cell conjunction and regulated EMT-related proteins. RNA sequencing analysis revealed upregulation of ITGB4 and enrichment of cell migration and adhesion pathways. …”
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Benchmarking cell type annotation methods for 10x Xenium spatial transcriptomics data by Jinming Cheng, Xinyi Jin, Gordon K. Smyth, Yunshun Chen

“…Many good reference-based cell type annotation tools have been developed for single-cell RNA sequencing and sequencing-based spatial transcriptomics data. …”
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Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss by Songqun Hu, Feifei Sun, Jie Zhang, Yan Tang, Jinhong Qiu, Zhixia Wang, Luping Zhang

“…In this report, we aimed to disclose the genetic causes of the subjects from the ten Chinese deaf families who did not have pathogenic common genes/mutation. Next-generation sequencing (NGS) of 142 known deafness genes was performed in the probands of ten families followed by cosegregation analysis of all family members. …”
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Central Role of Gimap5 in Maintaining Peripheral Tolerance and T Cell Homeostasis in the Gut by Mehari Endale, H. Ibrahim Aksoylar, Kasper Hoebe

“…Specifically, genome-wide (GWAS) and also next-generation sequencing (NGS)—including whole exome or genome sequencing—have uncovered a large number of susceptibility loci that predispose to autoimmune diseases and/or the two phenotypes of IBD. …”
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Transcriptome Analysis of the Thymus in Short-Term Calorie-Restricted Mice Using RNA-seq by Zehra Omeroğlu Ulu, Salih Ulu, Soner Dogan, Bilge Guvenc Tuna, Nehir Ozdemir Ozgenturk

“…Three cDNA libraries were sequenced using Illumina HiSeq™ 4000 to produce 100 base pair-end reads. …”
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Epidermal stem cell derived exosomes-induced dedifferentiation of myofibroblasts inhibits scarring via the miR-203a-3p/PIK3CA axis by Shixin Zhao, Haoran Kong, Dahu Qi, Yushuang Qiao, Yu Li, Zhiming Cao, Hanwen Wang, Xuefeng He, Hengdeng Liu, Hao Yang, Suyue Gao, Tao Liu, Julin Xie

“…In this study, we used comparative transcriptomics and single-cell sequencing to identify key molecules and pathways that mediate fibrosis and myofibroblast transdifferentiation. …”
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