Investigation and analysis of turbulence and fluctuations of rainfall regions of Iran by hossain asakereh, mehdi doustkamian, mohammad darand

“…In order to investigate disturbances, mutations and fluctuations in Iran's rainy areas, this study was carried out. …”
Get full text

Strain-limited biofilm regulation through the Brg1-Rme1 circuit in Candida albicans by Min-Ju Kim, Aaron P. Mitchell

“…We find that a rme1Δ/Δ mutation restores biofilm/filament production in a brg1Δ/Δ mutant of P76067, but not in brg1Δ/Δ mutants of P57055, P87, and P75010. …”
Get full text

Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein. by June Yao, Tu Cam Le, Claudine H Kos, Joel M Henderson, Phillip G Allen, Bradley M Denker, Martin R Pollak

“…We characterized the biological effect of these mutations by biochemical assays, cell-based studies, and the development of a new mouse model. …”
Get full text

Rett syndrome complicated by diabetes mellitus type 1 by Yasutaka Kuniyoshi, Satoru Takahashi

“…At 10 years of age, genetic testing revealed a pathogenic MECP2 mutation. Clinical features, including breathing abnormalities, bruxism, abnormal tone and inappropriate laughing, met the diagnostic criteria for RS. …”
Get full text

SETD2 loss-of-function uniquely sensitizes cells to epigenetic targeting of NSD1-directed H3K36 methylation by Ryan T. Wagner, Ryan A. Hlady, Xiaoyu Pan, Liguo Wang, Sungho Kim, Xia Zhao, Louis Y. El Khoury, Shafiq Shaikh, Jian Zhong, Jeong-Heon Lee, Jolanta Grembecka, Tomasz Cierpicki, Thai H. Ho, Keith D. Robertson

“…Its role in regulating cellular processes such as RNA splicing, DNA repair, and spurious transcription initiation underlies its broader tumor suppressor function. SETD2 mutation promotes the epithelial-mesenchymal transition and is clinically associated with adverse outcomes highlighting a therapeutic need to develop targeted therapies against this dangerous mutation. …”
Get full text

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.…”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

Buckwheat breeding and production in Russia during the past 100 years by A. N. Fesenko, I. N. Fesenko

“…At present, our lab is developing determinant buckwheat cultivars using some additional mutations. A major success in this work has been the world’s first determinant cultivar with green flowers (the gc mutation) named ‘Design’, which develops thicker and stronger fruit stalks with higher resistance to seed shattering.…”
Get full text