Subclinical Inflammatory Status in Rett Syndrome by Alessio Cortelazzo, Claudio De Felice, Roberto Guerranti, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Gloria Zollo, Claudia Landi, Giuseppe Valacchi, Lucia Ciccoli, Luca Bini, Joussef Hayek

“…The number of protein changes was proportional to the severity of the mutation. Our findings reveal for the first time the presence of a subclinical chronic inflammatory status related to the “pseudo-autistic” phase of RTT, which is related to the severity carried by the MECP2 gene mutation.…”
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Characterizing immune biomarkers and effector CD8+ T-cell exhaustion in pancreatic adenocarcinoma via single-cell RNA sequencing profiling by Rawaa AlChalabi, Raghda Makia, Semaa A. Shaban, Ahmed AbdulJabbar Suleiman

“…We examined gene expression profiles and conducted functional enrichment analysis to evaluate their roles in immune exhaustion. We analyzed mutations in the shortlisted biomarkers from The Cancer Genome Atlas (TCGA) and performed in silico mutational analysis using Maestro to evaluate the impact of an IL7R mutation (K110N) on protein function. …”
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Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience by Yuri Battaglia, Federica Baciga, Meilad Shakkour, Savio Russo, Giulia Carnicella, Michela Erlati, Gemma Sartori, Giulia Tronconi, Renzo Mignani, Federico Pieruzzi, Paolo Colomba, Laura Scichilone, Michele Andreucci, Concetto Sessa, Giovanni Duro

“…Fabry disease (FD) is a progressive, multisystemic X-linked disorder caused by mutations in the GLA gene, often leading to renal failure. …”
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Evolutionary dynamics of mitochondrial genomes and intracellular transfers among diploid and allopolyploid cotton species by Jiali Kong, Jie Wang, Liyun Nie, Luke R. Tembrock, Changsong Zou, Shenglong Kan, Xiongfeng Ma, Jonathan F. Wendel, Zhiqiang Wu

“…Abstract Background Plant mitochondrial genomes (mitogenomes) exhibit extensive structural variation yet extremely low nucleotide mutation rates, phenomena that remain only partially understood. …”
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Genetic diversity and transmission pattern of multidrug-resistant tuberculosis based on whole-genome sequencing in Wuhan, China by Liqing Wei, Jun Chen, Zhen Deng, Zefang Zhang, Zhengbin Zhang, Qionghong Duan

“…Notably, rare mutations absent from the WHO mutation catalog, such as ahpC c-52C > T and rpsL Lys43Thr, were also observed. …”
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An adaptive differential evolution algorithm to solve the multi-compartment vehicle routing problem: A case of cold chain transportation problem by Supaporn Sankul, Naratip Supattananon, Raknoi Akararungruangkul, Narong Wichapa

“…In general, this algorithm consists of four steps: (1) The first step is to generate the initial solution. (2) The second step is the mutation process. (3) The third step is the recombination process, and the final step is the selection process. …”
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Correlation between SMADs and Colorectal Cancer Expression, Prognosis, and Immune Infiltrates by Ning Ding, Hongbiao Luo, Tao Zhang, Tianshu Peng, Yanru Yao, Yongheng He

“…The effect of R language and GEPIA on prognosis was analysed. Mutation rates of SMADs in CRC were determined by cBioPortal, and potentially related genes were predicted using GeneMANIA. …”
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Artificial Neural Network-Based Identification of Associations between UCP2 and UCP3 Gene Polymorphisms and Meat Quantity Traits by Javed Ahmed Ujjan, Sapna Waheed Memon, Majeeda Ruk, Zuneera Akram, Allahwadhayo Ghoto, Betty Nokobi Dugbakie

“…In identifying mutations occurring in distinct cow breeds, genetic elements must be taken into consideration. …”
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Adrenoleukodystrophy: Symptoms, Treatment and Newborn Screening. Literature Review and Clinical Case by Laura Regelskytė, Rūta Praninskienė

“…Due to the ABCD1 gene mutation, there is a disorder of peroxisomes, thus very long-chain fatty acids are not degraded properly. …”
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Building an Immune-Related Genes Model to Predict Treatment, Extracellular Matrix, and Prognosis of Head and Neck Squamous Cell Carcinoma by Yushi Yang, Yang Feng, Qin Liu, Ji Yin, Chenglong Cheng, Cheng Fan, Chenhui Xuan, Jun Yang

“…The high-risk group, on the other hand, had suppressive immunity, high levels of NK and CD4 T-cell infiltration, high gene mutation rates, and decreased benefits from ICI therapy. …”
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Brugada Syndrome and Pregnancy: Highlights on Antenatal and Prenatal Management by Laura Giambanco, Domenico Incandela, Antonio Maiorana, Walter Alio, Luigi Alio

“…It is an autosomal dominant disease due to a mutation of SNC5A gene. Its prevalence is low all over the world, but it is a lethal disease. …”
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Identification of G-quadruplex-forming Sequences in Nucleocapsid Gene of SARS-CoV-2 Variants of Concern: An In Silico Analysis by Saeedeh Ghazaey Zidanloo

“…The Omicron variant had this PQS back at position 621 as it had acquired several mutations. In addition, there is also a unique R203M mutation, in the N protein of the Delta variant that leads to increased RNA packaging, replication, and severe COVID-19. …”
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Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report by Mónica Fernandes-Pineda, Andrés F. Zea-Vera

“…Activated phosphoinositide 3-kinase δ syndrome is an inborn error of immunity due to mutations within the genes responsible for encoding PI3Kδ subunits. …”
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Analysis of multidrug resistant group B streptococci with reduced penicillin susceptibility forming small, less hemolytic colonies. by Hirotsugu Banno, Kouji Kimura, Yosuke Tanaka, Tsuyoshi Sekizuka, Makoto Kuroda, Wanchun Jin, Jun-Ichi Wachino, Keiko Yamada, Keigo Shibayama, Yoshichika Arakawa

“…Isogenic strains were sequenced to identify the mutation related to a small colony size. We identified a 276_277insG nucleic acid insertion in the thiamin pyrophosphokinase (tpk) gene, resulting in premature termination at amino acid 103 in TPK, as a candidate mutation responsible for small colony formation. …”
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Unveiling the prenatal features of HADDS: A case report and literature review by Lina Hu, Dongzhi Li, Li Zhen, Yanan Wang

“…However, symptoms and signs of HADDS caused by mutations in EBF3 have not been studied until now. …”
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Mechanisms of KRAS inhibitor resistance in KRAS-mutant colorectal cancer harboring Her2 amplification and aberrant KRAS localization by Kohei Maruyama, Yuki Shimizu, Yumi Nomura, Tomoko Oh-hara, Yuki Takahashi, Satoshi Nagayama, Naoya Fujita, Ryohei Katayama

“…In the latter group, PDCs with PIK3CA major mutation showed high sensitivity to PI3K+mTOR co-inhibition, and a PDC with Her2 amplification with PIK3CA minor mutation showed PI3K-AKT pathway dependency but lost KRAS-MAPK dependency by cytoplasmic localization of KRAS. …”
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Knockout of BnaX.SGT.a caused significant sinapine reduction in transgene-free rapeseed mutants generated by protoplast-based CRISPR RNP editing by Oliver Moss, Xueyuan Li, Eu Sheng Wang, Selvaraju Kanagarajan, Rui Guan, Emelie Ivarson, Li-Hua Zhu

“…We achieved successful knockout of the BnaX.SGT.a paralogues, with an average mutation efficiency of over 30%. Sequencing results revealed a variety of mutation types, from 1 bp insertions to 10 bp deletions, with most mutants exhibiting frameshift mutations that led to premature stop codons. …”
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Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency by Funda Erol Çipe, Cigdem Aydogmus, Arzu Babayigit Hocaoglu, Merve Kilic, Gul Demet Kaya, Elif Yilmaz Gulec

“…Homozygous mutation in Cernunnos/XLF gene (NHEJ1) was identified. …”
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Aggressive Differentiated Thyroid Cancer due to EML4e13-ALKe20 Fusion: A Case Presentation and Review of the Literature by Rodhan Khthir, Zainab Shaheen, Prasanna Santhanam, Saroj Sigdel

“…He underwent bilateral lateral lymph node dissection followed by radioactive iodine treatment. Somatic mutation testing showed EML4e13-ALKe20 fusion. Summary. …”
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A comprehensive in silico analysis of structural and functional impacts of natural nonsynonymous SNPs in the ALDH2_HUMAN gene by Mehr Ali Mahmood Janlou

“…Furthermore, performing microsecond-timescale molecular dynamics simulations revealed that only the E487K mutation elevated the conformational instability and induced less compactness of the ALDH2. …”
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