Nephrogenic Syndrome of Inappropriate Antidiuresis by D. Morin, J. Tenenbaum, B. Ranchin, T. Durroux

“…Mutations in the vasopressin V2 receptor gene are responsible for two human tubular disorders: X-linked congenital nephrogenic diabetes insipidus, due to a loss of function of the mutant V2 receptor, and the nephrogenic syndrome of inappropriate antidiuresis, due to a constitutive activation of the mutant V2 receptor. …”
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Allelic variants for Waxy genes in common wheat lines bred at the Lukyanenko National Grain Center by E. R. Davoyan, L. A. Bespalova, R. O. Davoyan, E. V. Agaeva, G. I. Bukreeva, Yu. S. Zubanova, D. S. Mikov, D. M. Boldakov

“…Lukyanenko, by crossing mutant forms carrying inactive (null) alleles of genes Wx-A1, Wx-B1, and Wx-D1 with bread wheat cultivars. …”
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Development of new powdery mildew resistant lines in garden pea (Pisum sativum L.) using induced mutagenesis and validation of resistance for the er1 and er2 gene through molecular... by Akhilesh Sharma, Devinder Kumar Banyal, Vinod Janardan Dhole, Bansuli, Ranbir Singh Rana, Rajesh Kumar, Prabhat Kumar, Nimit Kumar, Srishti, Arshia Prashar, Vivek Singh, Anoushka Sharma

“…SSR markers “PSMPSAD60 d” and “PSMPA5 c” linked to the er-1 gene indicated the presence of the “er1” gene in the mutant L-0.3-139 while the er-2 gene-linked SCAR marker “ScX171400” and SSR marker “AD141” indicated the probability of the “er-2” gene in mutant L-40-1014. …”
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Very first real-world data on zongertinib use in non-small cell lung cancer patients with HER2 mutations: A brief report by Oliver Illini, Anna Sophie Lang-Stöberl, Hannah Fabikan, Christoph Weinlinger, Arschang Valipour, Maximilian J. Hochmair

“…Introduction: Treatment options for HER2-mutant patients with non-small cell lung cancer (NSCLC) are limited. …”
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Peptide nucleic acid-immobilised paper combined with multiplex recombinase polymerase amplification for the ultrasensitive and rapid detection of rifampicin-resistant tuberculosis by Nuttapon Jirakittiwut, Panuwat Sathianpitayakul, Pitak Santanirand, Yukihiro Akeda, Tirayut Vilaivan, Panan Ratthawongjirakul

“…The absence of a signal was observed when the mutant strains were detected because of the inability to bind the mutant sequence. …”
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Combining Ability of Pod Yield and Related Traits of Groundnut (Arachis hypogaea L.) under Salinity Stress by Md. Abul Kalam Azad, Md. Shah-E-Alam, Md. Abdul Hamid, Mohd Y. Rafii, M. A. Malek

“…Cultivars “Binachinabadam-2” and “Dacca-1” and mutant M6/25/64-82 had the highest, second highest, and third highest pod number, as well as gca values, respectively. …”
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Aromatic Amino Acid Mutagenesis at the Substrate Binding Pocket of Yarrowia lipolytica Lipase Lip2 Affects Its Activity and Thermostability by Guilong Wang, Zimin Liu, Li Xu, Yunjun Yan

“…By contrast, there are two amino acid residues (V94 and I100) with significant difference in the substrate binding pocket of YLLip2; they were subjected to site-directed mutagenesis (SDM) to introduce aromatic amino acid mutations. Two mutants (V94W and I100F) were created. The enzymatic properties of the mutant lipases were detected and compared with the wild-type. …”
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Study of the effect of the introduction of mitochondrial import determinants into the gRNA structure on the activity of the gRNA/SpCas9 complex in vitro by E. G. Zakirova, Y. V. Vyatkin, N. A. Verechshagina, V. V. Muzyka, I. O. Mazunin, K. E. Orishchenko

“…It means that due to a high copy number of the mitochondrial genome, mutant copies of mtDNA coexist with wild-type molecules in the same organelle. …”
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Deletion of a Putative GPI-Anchored Protein-Encoding Gene Aog185 Impedes the Growth and Nematode-Trapping Efficiency of Arthrobotrys oligospora by Disrupting Transmembrane Transpor... by Hui Peng, Hengqian Lu, Xinyuan Dong, Xiao Liang, Kangliang Sheng, Jingmin Wang, Xiaowei Kong, Xiangdong Zha, Yongzhong Wang

“…Compared to the wild-type (WT) strain, the ΔAog185 mutant grew more slowly, exhibited a 20% decrease in conidiation, delayed conidial germination, generated fewer traps, attenuated nematode trapping efficiency, and was more sensitive to chemical stressors. …”
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Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber’s hereditary optic neuropathy (LHON) by Aswathy P. Nair, Ambika Selvakumar, Janani Gopalarethinam, B. Abishek Kumar, Balachandar Vellingiri, Mohana Devi Subramaniam

“…In comparison to their controls, both LHON patients and ND4 mutant cells exhibited a significant enrichment in activation and repressive markers. …”
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A Consecutive Genome Engineering Method Reveals a New Phenotype and Regulation of Glucose and Glycerol Utilization in Clostridium Pasteurianum by Tom Nguyen, Luca W. G. Meleski, Minu P. Belavatta, Sivasubramanian Gurumoorthi, Chijian Zhang, Anna‐Lena Heins, An‐Ping Zeng

“…Additionally, examination of the phenotype of the generated mutant strain led to discovery of 2,3‐butanediol (2,3‐BDO) production of up to 0.48 g L−1, and this metabolite was not reported to be produced by C. pasteurianum before. …”
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Extramacrochaetae regulates Notch signaling in the Drosophila eye through non-apoptotic caspase activity by Sudershana Nair, Nicholas E Baker

“…Growth inhibition of emc mutant clones in wing imaginal discs also depended on caspases. …”
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Inference of a three-gene network underpinning epidermal stem cell development in Caenorhabditis elegans by Alicja Brożek, Arianna Ceccarelli, Andreas Christ Sølvsten Jørgensen, Mark Hintze, Vahid Shahrezaei, Michalis Barkoulas

“…We use single-molecule FISH to quantify TF mRNA levels in single seam cells of wild-type and mutant backgrounds across four early larval stages. …”
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Somatic Mutaome Profile in Human Cancer Tissues by Nayoung Kim, Yourae Hong, Doyoung Kwon, Sukjoon Yoon

“…In the present study, we integrated and analyzed the exome sequencing data from ~3,000 tissue samples and summarized the major mutant genes in each of the diverse cancer subtypes and stages. …”
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POLYMORPHISM VITAMIN D RECEPTOR GENE (VDR) BSMI (RS1544410) CHRONIC PERIODONTITIS PATIENT IN JAVANESE BANYUMAS ETHNIC by Ryana Budi Purnama, Setiadi Warata Logamarta, Agung Dhartono

“…From data analysis, X2 is 0,44 with p=0,50 (p>0,05) resulted. It was showing mutant VDR gene allele frequency in chronic periodontitis patients in Javanese Banyumas ethnic were balanced genetically. …”
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Marker-assisted identification of maize genotypes with improved protein quality by O. A. Orlovskaya, S. V. Kubrak, S. I. Vakula, L. V. Khotyleva, A. V. Kilchevsky

“…UREA-PAG electrophoresis of zein proteins was used for Quality Protein Maize (QPM) identification. In addition to the mutant o2 allele, QPM contains genetic modifiers that convert starchy endosperm of o2 mutant to the hard vitreous phenotype. …”
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Roles of the rpoEc-chrR-chrA operon in superoxide tolerance and β-lactam susceptibility of Stenotrophomonas maltophilia by Ren-Hsuan Ku, Hsu-Feng Lu, Li-Hua Li, Li-Hua Li, Ting-Yu Yeh, Yi-Tsung Lin, Yi-Tsung Lin, Tsuey-Ching Yang

“…The contribution of rpoEc-chrR-chrA operon to oxidative stress alleviation and antibiotic susceptibility was evaluated using mutant constructs and stress-tolerance assays. RNA-seq transcriptome assay of wild-type KJ, KJΔChrR (chrR mutant), and KJΔChrRΔRpoEc (chrR/rpoEc double mutant) was performed to reveal the σEc regulon.ResultsThe rpoEc-chrR pair and downstream chrA formed an operon. …”
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A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome by Ying Zhang, Yu Chen, Fa-Ying Liu, Jing-Wen Fu, Xian-Xian Liu, Jun Tan, Ou-Ping Huang, Yang Zou

“…The evolutionary conservation analysis of the identified Axin-2 mutant was analyzed among 15 vertebrates from human to zebrafish. …”
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Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease by Lauren G. Russell, Maria Kolatsi‐Joannou, Laura Wilson, Jennifer C. Chandler, Nuria Perretta Tejedor, Georgie Stagg, Karen L. Price, Christopher J. Rowan, Tessa Crompton, Norman D. Rosenblum, Paul J. D. Winyard, David A. Long

“…We utilized Cpk mice which phenocopy ARPKD and generated a PKHD1‐mutant spheroid model in human collecting ducts. Significantly elevated levels of the Hh transcriptional effector Gli3 were found in Cpk mice, a finding replicated in PKHD1‐mutant spheroids. …”
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Impaired peroxisomal beta-oxidation in microglia triggers oxidative stress and impacts neurons and oligodendrocytes by Ali Tawbeh, Catherine Gondcaille, Fatima-Ezzahra Saih, Quentin Raas, Damien Loichot, Yannick Hamon, Céline Keime, Alexandre Benani, Francesca Di Cara, Mustapha Cherkaoui-Malki, Pierre Andreoletti, Stéphane Savary

“…Exposure to CM from LPS-stimulated mutant microglial cells significantly increased apoptosis in both cell types. …”
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