Generation of Whole-Genome Sequencing Data for Comparing Primary and Castration-Resistant Prostate Cancer by Jong-Lyul Park, Seon-Kyu Kim, Jeong-Hwan Kim, Seok Joong Yun, Wun-Jae Kim, Won Tae Kim, Pildu Jeong, Ho Won Kang, Seon-Young Kim

“…The analysis of the paired PC and CRPC samples in the whole-genome data showed that the average number of somatic mutations per patients was 7,927 in CRPC tissues compared with primary PC tissues (range, 1,691 to 21,705). …”
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From Genetics to Genomics of Epilepsy by Silvio Garofalo, Marisa Cornacchione, Alfonso Di Costanzo

“…Because of the great advancements in molecular genetics and the development of simple laboratory technology to identify the mutations in the causative genes, also the diagnostic approach to epilepsy has significantly changed. …”
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Aberrant Regulation of Messenger RNA 3′-Untranslated Region in Human Cancer by Isabel López de Silanes, María Paz Quesada, Manel Esteller

“…Here, we review the mutations in 3′UTR regulatory sequences as well as the aberrant levels, subcellular localization, and posttranslational modifications of trans-acting factors that can promote or enhance the malignant phenotype of cancer cells. …”
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Delayed Diagnosis of Crigler-Najjar Disease: A Case Report of a 17-Year-Old Man with Progressive Jaundice by Pedram Beigvand, Niloofar Moradi, Sepehr Ramezani, Faezeh Firuzpour

“… Crigler-Najjar syndrome type II is a metabolic disorder stemming from mutations in the UGT1A1 gene, resulting in heightened levels of unconjugated bilirubin. …”
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Using the Neurofibromatosis Tumor Predisposition Syndromes to Understand Normal Nervous System Development by Cynthia Garcia, David H. Gutmann

“…As such, tumors arise when cells acquire genetic mutations that allow them to escape the normal growth constraints. …”
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Utilization of nanomaterials functionalized bio-field-effect transistors for detection of cancer biomarkers by Keerthana Madhivanan, Raji Atchudan, Sandeep Arya, Ashok K. Sundramoorthy

“…FETs based biosensors were highly sensitive and selective compared to the other traditional sensing devices such as amplification-refractory mutations, Western blot, electrochemical, digital polymerase chain reaction and next generation sequencing methods. …”
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Uveal Melanoma by Vasilios P. Papastefanou, Victoria M. L. Cohen

“…Biopsy of those lesions may prove to be important for prognostication and to allow further research into genetic mutations and potential new therapeutic targets in the future.…”
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EFFECTS ANALYSIS OF PRESSURE ON THE MAGNETIC MEMORY SIGNALS OF PIPELINE DEFECTS by TANG YuLian, CHEN ShiLi, HUANG XinJing, YANG YuHan

“…The results show that magnetic memory signals of defects have two characteristics—— radial magnetic field in the pipeline mutating from minimum to maximum and axial magnetic field appearing maximum. …”
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Ubiquitination Enzymes in Cancer, Cancer Immune Evasion, and Potential Therapeutic Opportunities by Aiman B. Awan, Maryiam Jama Ali Osman, Omar M. Khan

“…The ubiquitin–proteasome system (UPS) is critical in maintaining essential life processes such as cell cycle control, DNA damage repair, and apoptosis. Mutations in ubiquitination pathway genes are strongly linked to the development and spread of multiple cancers since several of the UPS family members possess oncogenic or tumor suppressor activities. …”
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Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) by Sharmin Alhaque, Dimitri Budinger, Barbara Garavaglia, Giovanna Zorzi, Serena Barral, Manju A. Kurian

“…Adenylyl cyclase 5 (ADCY5)-related diseases are a rare group of genetic disorders that commonly present in childhood. Heterozygous mutations in ADCY5 lead to ADCY5-related dyskinesia, comprising a wide array of disabling hyperkinetic movement disorders including chorea, myoclonus and/or dystonia. …”
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Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic by María Belén Martín-Sanz, Delvis Lucas-Muñoz, Manuel Colomé-Hidalgo, Manuel Colomé-Hidalgo

“…The underlying cause of SMA is deletions or mutations in the SMN gene. It is classified into five variants based on age and clinical manifestations of the patient. …”
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Evaluation of IgG binding capability to SARS-CoV-2 variants in early COVID-19 convalescent sera using an indirect ELISA by Behzad Hussain, Peizhe Zhao, Yu Liu, Bo Yang, Xiaoxiong Li, Zhichao Zhang, Guoqiang Feng, Demei Zhang, Defen Lu, Wu Changxin

“…SARS-CoV-2 has been mutating rapidly resulting in the emergence of multiple variants to escape the host immune system mainly by mutations in its receptor binding domain (RBD) of the spike protein. …”
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Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis by Quynh Tran Thuy Huong, Linh Tran Nguyen Truc, Hiroko Ueda, Kenji Fukui, Koichiro Higasa, Yoshinori Sato, Shinichi Takeda, Motoshi Hattori, Hiroyasu Tsukaguchi

“…<b>Background</b>: Charcot–Marie–Tooth (CMT) disease is an inherited peripheral neuropathy primarily involving motor and sensory neurons. Mutations in INF2, an actin assembly factor, cause two diseases: peripheral neuropathy CMT-DIE (MIM614455) and/or focal segmental glomerulosclerosis (FSGS). …”
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Highly proliferating cancer cells function as novel prognostic biomarkers for lung adenocarcinoma with particular usefulness for stage IA risk stratification by Yanlu Xiong, Yongfu Ma, Jie Lei, Jianfei Zhu, Nianlin Xie, Feng Tian, Qiang Lu, Miaomiao Wen, Qian Zheng, Yong Han, Tao Jiang, Yang Liu

“…Finally, we explored the relationship between HPCs and the progressive pathological evolution of early-stage LUAD and the driving mutations by scRNA-seq, bulk RNA-seq and IHC staining. …”
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Effect of remote ischemic preconditioning on perioperative neurocognitive disorder in elderly patients undergoing major surgery and associated genetic variant analysis: a randomize... by Feifei Xu, Tingting Liu, Huiqing Liu, Jiao Deng, Shan He, Zhihong Lu, Haopeng Zhang, Hailong Dong

“…Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis revealed that these mutated genes are enriched in synapse function. Notably, a Shank3 variant (SNP rs4824145) was included. …”
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Clinical utility and predictive value of cerebrospinal fluid cell-free DNA profiling in non-small cell lung cancer patients with leptomeningeal metastasis by Sheng-Kai Liang, Wei-Yu Liao, Jin-Yuan Shih, Chia-Lin Hsu, Ching-Yao Yang, Shang-Gin Wu, Yen-Ting Lin, Yueh-Feng Wen, Lun-Che Chen, Yen-Fu Chen, Ya-Fang Chen, Yen-Heng Lin, Chong-Jen Yu

“…Among 25 enrolled patients, 22 (88.0 %) had EGFR mutations, while three (12.0 %) had EML4-ALK fusion, KIF5B-RET fusion, and ERBB2 A775_G776insSVMA. …”
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Comprehensive analysis of the expression and prognostic value of ARMCs in pancreatic adenocarcinoma by Guanxiang Zhuo, Shengzhai Lin, Fei Yuan, Qiaoling Zheng, Yinpin Guo, Zuwei Wang, Jianfei Hu, Meihong Yao, Fuxiu Zhong, Shi Chen, Yanling Chen, Huixing Chen

“…In addition, ARMC2, 5, 6, and 10 were positively associated with advanced stages of PAAD. ARMCs mutations occur in 11% of PAAD patients, and missense mutations and amplification of ARMCs account for most of them. …”
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Antibody Avidity and Neutralizing Response against SARS-CoV-2 Omicron Variant after Infection or Vaccination by Francesca Dapporto, Serena Marchi, Margherita Leonardi, Pietro Piu, Piero Lovreglio, Nicola Decaro, Nicola Buonvino, Angela Stufano, Eleonora Lorusso, Emilio Bombardieri, Antonella Ruello, Simonetta Viviani, Eleonora Molesti, Claudia Maria Trombetta, Alessandro Manenti, Emanuele Montomoli

“…The recently emerged SARS-CoV-2 Omicron variant exhibits several mutations on the spike protein, enabling it to escape the immunity elicited by natural infection or vaccines. …”
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Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer by Ying-Cheng Chiang, Hsien-Neng Huang, Kuan-Ting Kuo, Wuh-Liang Hwu, Po-Han Lin

“…Using whole exome sequencing (WES)-based platform can provide information of gene mutations and HRD score; however, the clinical value of WES-based HRD test was less validated in EOC. …”
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Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity by Nouh AH, Elgendy FM, Gobran FA, Zhuravlova MS

“…Each case involves different genetic mutations, highlighting the variability of the condition.MUHH typically presents as sparse hair at birth, which becomes coarse in childhood and then gradually thins again during puberty. …”
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