X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability by Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI

“…To prevent regressive autistic episodes in young children, it is highly recommended to consider next-generation sequencing techniques as the first step in the differential diagnostic process of autism.Keywords: epsilon-trimethyllysine hydroxylase gene, TMLHE, levocarnitine, autism, intellectual disability, contextual neuropsychology, psychopathology…”
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First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis by Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu

“…In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS (IVS6+1, del G) and the other at the acceptor site of exon 8 (IVS8-1, del GT). …”
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In-depth characterization of miRNome in papillary thyroid cancer with BRAF V600E mutation by Azliana Mohamad Yusof, Francis Yew Fu Tieng, Rohaizak Muhammad, Shahrun Niza Abdullah Suhaimi, Isa Mohamed Rose, Sazuita Saidin, Rahman Jamal, Imilia Ismail, Nurul-Syakima Ab Mutalib

“…Five fresh frozen thyroid cancer tissues paired with their respective adjacent normal tissues from PTC patients were subjected to BRAF V600E genotyping using Sanger sequencing and small RNA deep sequencing (miRNAseq). …”
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Therapeutic potential and mechanisms of umbilical cord mesenchymal stem cells differentiating into tendon cells and promotion of rotator cuff tendon-bone healing by Youliang Shen, Yuelei Wang, Yidan Xu, Jie Wang, Chuqiang Yin, Zengshuai Han, Feng Shen, Ting Wang

“…With increasing induction time, UCMSCs exhibited obvious tendon cell characteristics, such as changes in cell morphology and increased expression of tendon-specific proteins (MKX, SCX, and TNC). Single-cell sequencing analysis revealed key cellular subpopulations and signaling pathways during differentiation. …”
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TNRC6C Functions as a Tumor Suppressor and Is Frequently Downregulated in Papillary Thyroid Cancer by Zhenqin Cai, Tianyu Zhai, Dilidaer Muhanhali, Yan Ling

“…Cell proliferation, migration, invasion, and apoptosis were analyzed after knockdown or overexpression of TNRC6C in BCPAP cells. RNA-sequencing was performed to find the target genes of TNRC6C, and potential targets were validated in BCPAP and TPC1 cells. …”
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Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia by D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake

“…Four patients of Sri Lankan origin presenting with features suggestive of ataxia telangiectasia were referred to our genetics center for specialized genetic counseling and testing. Whole-exome sequencing followed by Sanger sequencing was used to confirm the candidate variants. …”
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Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A by Yao-Bin Zhu, Jian-Hui Zhang, Yuan-Yuan Ji, Ya-Nan Hu, Han-Lu Wang, Dan-Dan Ruan, Xiao-Rong Meng, Xin-Fu Lin, Jie-Wei Luo, Wei Chen

“…The family members who participated in the survey were tested for possible mutations using Sanger sequencing. Six family members were diagnosed with Brugada syndrome, including four asymptomatic patients. …”
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Preliminary study on mercury pollution affecting soil bacteria near a mercury mining area by Jianxiong Du, Yili Yuan, Jianfeng Li, Shuqing Zhang, Yuxiang Ren

“…After processing them, the soil microbial DNA was extracted from each soil sample, and sequenced via high-throughput sequencing technology. …”
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Periductal Mastitis: An Inflammatory Disease Related to Bacterial Infection and Consequent Immune Responses? by Lu Liu, Fei Zhou, Pin Wang, Lixiang Yu, Zhongbing Ma, Yuyang Li, Dezong Gao, Qiang Zhang, Liang Li, Zhigang Yu

“…With 16S rRNA gene sequencing, we confirmed bacterial infections were found in all PDM patients, but none of the control patients was positive on the gene expression of 16S rRNA. …”
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Macrophage Infiltration and ITGB2 Expression in ESCC: A Novel Correlation by Tao Huang, Longqian Wei, Huafu Zhou, Jun Liu

“…Methods In this study, we integrated high‐throughput sequencing data, gene chip data, single‐cell sequencing data, and various bioinformatics analysis methods along with experimental approaches to identify key genes involved in immune infiltration in ESCC and investigate their relationship with immune cell development, as well as the potential of these key genes in immunotherapy. …”
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Type 2 Diabetic Mellitus Inhibits Skin Renewal through Inhibiting WNT-Dependent Lgr5+ Hair Follicle Stem Cell Activation in C57BL/6 Mice by Minghui Wang, Shangsheng Yao, Dehua He, Mulan Qahar, Jinqing He, Meifang Yin, Jun Wu, Guang Yang

“…The altered genes were screened by RNA sequencing and verified by qRT-PCR. In addition, Lgr5 + GFP/mTmG transgenic mice were used to observe the effect of T2DM on Lgr5 hair follicle stem cells (HFSC). …”
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Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency by Sebastián Gutiérrez-Hincapié, Julio César Orrego, José Luis Franco, Claudia M. Trujillo-Vargas

“…Sanger sequencing confirmed the pathogenic variant. Results. …”
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Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families. by Nicole D Dueker, Ashley Beecham, Liyong Wang, Chuanhui Dong, Ralph L Sacco, Susan H Blanton, Tatjana Rundek

“…Therefore, we performed targeted sequencing of the one LOD unit down region on 7q36, 11p15, 14q32 and 15q23 in 12 Dominican families with evidence for linkage to plaque presence. …”
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Chromatin accessibility and differentially expressed genes profiling in large yellow croaker (Larimichthys crocea) head kidney cells following iridovirus infection by Chaowei Song, Ying Huang, Fang Han, Zhiyong Wang, Zhiyong Wang

“…Understanding the host defense response to LYCIV infection is crucial for developing effective strategies to mitigate its impact.MethodsIn this study, an epigenetic approach was employed to investigate dynamic changes in chromatin accessibility using the assay for transposase-accessible chromatin with high-throughput sequencing (ATAC-seq). Additionally, RNA sequencing (RNA-seq) was used to analyze the expression pattern of immune response genes upon LYCIV infection.ResultsSubstantial alterations in chromatin accessibility were observed, particularly in the regulatory regions of key immune-related genes. …”
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A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report by Xin Liu, Kaiqing Liu, Lifu Hu, Zixiao Liu, Xinhua Liu, Jiantao Wang

“…Methods: The molecular pathogenesis of a LDS syndrome proband and his family members was analyzed using whole exome sequencing and validated using Sanger sequencing. Molecular dynamics simulations and in vitro cell experiments further analyzed the structural changes and functional abnormalities of the variation. …”
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Allele-specific PCR with fluorescently labeled probes: criteria for selecting primers for genotyping by V. A. Devyatkin, A. A. Shklyar, A. Zh. Fursova, Yu. V. Rumyantseva, O. S. Kozhevnikova

“…Single-nucleotide polymorphisms (SNPs) can serve as reliable markers in genetic engineering, selection, screening examinations, and other fields of science, medicine, and manufacturing. Whole-genome sequencing and genotyping by sequencing can detect SNPs with high specificity and identify novel variants. …”
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Repression of CADM1 transcription by HPV type 18 is mediated by three-dimensional rearrangement of promoter-enhancer interactions. by Karen Campos-León, Jack Ferguson, Thomas Günther, C David Wood, Steven W Wingett, Selin Pekel, Christy S Varghese, Leanne S Jones, Joanne D Stockton, Csilla Várnai, Michelle J West, Andrew Beggs, Adam Grundhoff, Boris Noyvert, Sally Roberts, Joanna L Parish

“…Here, we show by RNA-sequencing that oncogenic HPV18 episome replication in primary human foreskin keratinocytes (HFKs) drives host transcriptional changes that are consistent between multiple HFK donors. …”
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Pediatric pancreatic acinar cell carcinoma with a non-canonical BRAF-KMT2C fusion and a classic SND1-BRAF fusion: a case report and literature review by Yaqin Wang, Jiasi Zhang, Dimin Nie, Ai Zhang, Qun Hu, Aiguo Liu

“…Conclusions Next-generation sequencing has demonstrated significant value in identifying genetic fusions in pediatric PACC. …”
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Uncovering the molecular mechanisms of Acer fabri in adjusting to low-temperature stress through integrated physiological and transcriptomic analysis by Gongwei Chen, Dandan Zhang, Fengyuan Chen, Yixiao Zhou, Hongyu Cai, Heng Gu, Yuanzheng Yue, Lianggui Wang, Guohua Liu

“…To understand the molecular mechanism of A. fabri in response to low-temperature stress, relevant physiological changes were identified and the transcriptome sequencing was conducted under different stress durations. …”
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Intratumor heterogeneity of HPV integration in HPV-associated head and neck cancer by Noah Sasa, Toshihiro Kishikawa, Masashi Mori, Rie Ito, Yumie Mizoro, Masami Suzuki, Hirotaka Eguchi, Hidenori Tanaka, Takahito Fukusumi, Motoyuki Suzuki, Yukinori Takenaka, Keisuke Nimura, Yukinori Okada, Hidenori Inohara

“…Abstract Integration of human papillomavirus (HPV) into the host genome drives HPV-positive head and neck squamous cell carcinoma (HPV+ HNSCC). Whole-genome sequencing of 51 tumors revealed intratumor heterogeneity of HPV integration, with 44% of breakpoints subclonal, and a biased distribution of integration breakpoints across the HPV genome. …”
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