Placode and neural crest origins of congenital deafness in mouse models of Waardenburg-Shah syndrome by Jaime Tan, Alicia Duron, Henry M. Sucov, Takako Makita

“…Summary: Mutations in the human genes encoding the endothelin ligand-receptor pair EDN3 and EDNRB cause Waardenburg-Shah syndrome (WS4), which includes congenital hearing impairment. …”
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M694V gene polymorphism may not contribute to the pathogenesis of reactive arthritis in the North Indian population by Anamika Kumari Anuja, Koshy Nitin Thomas, Mantabya Kumar Singh, Ashish Jacob Mathew, Vikas Agarwal, Latika Gupta

“…All 49 patients of adult and juvenile ReA were negative for the M694V mutation. Conclusions: This is the first study assessing the prevalence of MEFV gene mutation in SpA in India. …”
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Pathogenesis of Myeloproliferative Neoplasms: Role and Mechanisms of Chronic Inflammation by Sylvie Hermouet, Edith Bigot-Corbel, Betty Gardie

“…These observations suggested that part of the inflammation observed in patients with JAK2-mutated MPNs may not be the consequence of JAK2 mutation. …”
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Molecular Characterization of Antibiotic Resistance and Genetic Diversity of Klebsiella pneumoniae Strains by Bahareh Arabzadeh, Zeynab Ahmadi, Reza Ranjbar

“…PCR and sequencing detected mutation in the gyrA gene in 51% of quinolone-resistant K. pneumoniae. …”
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Analysis of the Progress in Identification and Evaluation of Laboratory Animal Resources in China by DU Xiaoyan, LIU Yunbo

“….), the acquisition of new strains (species) through natural mutation and induced mutation, and the creation of new laboratory animal resources through gene editing technology. …”
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Whole exome analysis of primary immunodeficiency by E. S. Rahmani, Н. Azarpara, M. Karimipoor, Н. Rahimi

“…It has been shown that the HLH patient had a mutation in the UNC13D gene (NM_199242.2:c.627delT), and the SCID patient had a mutation in the RAG1 gene (NM_000448.2:c.322C>G). …”
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Genotypic Investigation of Clostridium difficile in Prince Edward Island by H Martin, LP Abbott, DE Low, B Willey, M Mulvey, J Scott Weese

“…Three different ribotypes, all NAP1, toxinotype III strains, had a frameshift mutation in the tcdC gene (Δ117), while one isolate (ribotype 078, NAP4, toxinotype V) had a truncating mutation (C184T) in the tcdC gene.…”
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Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports by Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, Shiro Ishikawa

“…Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. …”
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Evolutionary Explanations of the “Actuarial Senescence in the Wild” and of the “State of Senility” by Giacinto Libertini

“…Only the theory attributing an adaptive value to IMICAW allows an evolutionary explanation for it and for the aforesaid inverse correlation, while the other three theories (“mutation accumulation”, “antagonistic pleiotropy”, and “disposable soma” th.) even predict a positive correlation.Afterwards, the same theories are tested as possible explanations for the “state of senility”[3], namely the deteriorated state of individuals in artificially protected conditions (captivity, civilization, etc.) at ages rarely or never observable in the wild. …”
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A Case Report of EGFR-TKIs Resistant Secondary MET Gene Amplified 
Lung Squamous Cell Carcinoma and Literature Review by Yalan LIU, Peng CHEN, Xinfu LIU

“…With the rapid development of epidermal growth factor receptor (EGFR) gene testing of lung adenocarcinoma patients has been routinely carried out, EGFR mutations are also possible for some small samples of non-smoking female lung squamous cell carcinoma patients. …”
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ER Stress and Iron Homeostasis: A New Frontier for the UPR by Susana J. Oliveira, Maria de Sousa, Jorge P. Pinto

“…The C282Y mutation of HFE accounts for the majority of cases of the iron overload disease Hereditary Hemochromatosis (HH). …”
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Marker-Assisted Selection for Recognizing Wheat Mutant Genotypes Carrying HMW Glutenin Alleles Related to Baking Quality by Mohammad Javad Zamani, Mohammad Reza Bihamta, Behnam Naserian Khiabani, Zahra Tahernezhad, Mohammad Taher Hallajian, Marzieh Varasteh Shamsi

“…To realize the effect of mutation, seed storage proteins were measured. It showed that mutation had effect on the amount of seed storage protein on the mutant seeds (which showed polymorphism).…”
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Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder by Syouichi Katayama, Noriyuki Sueyoshi, Tetsuya Inazu, Isamu Kameshita

“…Because CDKL5 mutations identified in patients with CDD cause enzymatic loss of function, CDKL5 catalytic activity is likely strongly associated with the disease. …”
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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

“…Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family. …”
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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. …”
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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. …”
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Decreased Hsp90 activity protects against TDP-43 neurotoxicity in a C. elegans model of amyotrophic lateral sclerosis. by Laura Garcia-Toscano, Heather N Currey, Joshua C Hincks, Jade G Stair, Nicolas J Lehrbach, Nicole F Liachko

“…We also find that hsp-90 mutation or inhibition upregulates key stress responsive heat shock pathway gene expression, including hsp-70 and hsp-16.1, and we demonstrate that normal levels of hsp-16.1 are required for hsp-90 mutation effects on TDP-43. …”
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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. …”
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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. …”
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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. …”
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