Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants by Jingying Cheng, Liqiang Zhang, Jiafeng Yao, Shasha Zhao, Jin Jiang

“…Variation types included nonsense (21%), missense (27%), frameshift mutations (39%), splicing (8%), and large fragment deletions (4%). …”
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Epidemiology of Liver Cancer in Europe by F Xavier Bosch, Josepa Ribes

“…New laboratory techniques and biological markers such as polymerase chain reaction detection of HBV DNA and HCV RNA, as well as specific mutations related to LC, may help to provide quantitative estimates of the risk related to each these factors.…”
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Enhancing precision in cancer treatment: the role of gene therapy and immune modulation in oncology by Emile Youssef, Brandon Fletcher, Dannelle Palmer

“…CRISPR-Cas9, a revolutionary tool in precision medicine, enables precise editing of cancer-driving mutations, enhancing immune responses and disrupting tumor growth mechanisms. …”
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46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya by Christian Omoaghe

“…The condition results from abnormal gonadal development due to mutations in testis‐determining factors, most commonly the SRY gene. …”
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SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency by Brendan Connolly, Cleo Isaacs, Lei Cheng, Kirtika H. Asrani, Romesh R. Subramanian

“…Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that produces inactive/defective AAT due to mutations in the SERPINA1 gene encoding AAT. This disease is associated with decreased activity of AAT in the lungs and deposition of excessive defective AAT protein in the liver. …”
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Chronic Benign Tubular Albuminuria From Compound Heterozygous Variants in : A Case Report by Adam Pietrobon, Mark D. Elliott

“…Cubilin, encoded by CUBN , is a critical protein involved in protein reabsorption in the proximal tubule. Mutations in CUBN lead to Imerslund-Gräsbeck syndrome (IGS), a disorder characterized by vitamin B12 deficiency (and consequences related to that) with or without albuminuria. …”
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The role of KNDy neurons in human reproductive health by Aki Oride, Haruhiko Kanasaki

“…In 2003, GPR54 receptor mutations were found in a family with congenital hypogonadotropic hypogonadism. …”
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Respiratory rehabilitation techniques for patients with cystic fibrosis: a protocol for a systematic review and network meta-analysis by Xuefeng Chen, Xinyu Wang, Na Lin, Yilong Tang

“…Introduction Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, primarily affecting the respiratory and digestive systems. …”
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Plant genome modification: from induced mutagenesis to genome editing by A. B. Shcherban

“…However, this method was relatively long and included a number of stages from inducing multiple mutations using different mutagenic factors to crossing and selecting the most valuable cultivars for several generations. …”
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Rad3 decorates critical chromosomal domains with gammaH2A to protect genome integrity during S-Phase in fission yeast. by Sophie Rozenzhak, Eva Mejía-Ramírez, Jessica S Williams, Lana Schaffer, Jennifer A Hammond, Steven R Head, Paul Russell

“…Brc1 C-terminal BRCT domain binding to gammaH2A is crucial in the absence of Rqh1(Sgs1), a RecQ DNA helicase required for rDNA maintenance whose human homologs are mutated in patients with Werner, Bloom, and Rothmund-Thomson syndromes that are characterized by cancer-predisposition or accelerated aging. …”
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<i>shp-2</i> gene knockout upregulates CAR-driven cytotoxicity of YT NK cells by V. G. Subrakova, S. V. Kulemzin, T. N. Belovezhets, A. N. Chikaev, N. A. Chikaev, O. A. Koval, A. A. Gorchakov, A. V. Taranin

“…Here, we took advantage of the CRISPR/Cas9 system to introduce mutations in the coding sequence of the shp-2 (PTPN11) gene encoding the signaling molecule of inhibitory pathways in NK cells. …”
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Identification of Biomarkers of Arrhythmogenic Cardiomyopathy (ACM) by Plasma Proteomics by Sinda Zarrouk, Houda Ben-Miled, Nadia Rahali, Josef Finsterer, Fatma Ouarda

“…Further exploration of mutations in desmosomal proteins and their phosphorylation states may provide deeper insights into the pathophysiology of ACM.…”
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The Global Challenge of <i>Campylobacter</i>: Antimicrobial Resistance and Emerging Intervention Strategies by Zubeiru Bukari, Toyin Emmanuel, Jude Woodward, Richard Ferguson, Martha Ezughara, Nikhil Darga, Bruno Silvester Lopes

“…Extensive exposure to antibiotics in human and veterinary medicine creates selection pressure, driving resistance through mechanisms such as point mutations, horizontal gene transfer, and efflux pumps. …”
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Best1 mitigates ER stress induced by the increased cellular microenvironment stiffness in epilepsy by Hao Wu, Yicong Dong, Qiang Meng, Jingyi Jiang, Bojian Gao, Yutao Ren, Yong Liu, Huanfa Li, Changhe Wang, Hua Zhang

“…The loss-of-function mutations in Best1 inhibited this activity. The underlying mechanism involves the upregulation of the endosomal sorting complex required for the transport (ESCRT) components by Best1, which helps mitigate ER stress. …”
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Attenuation and Immunogenicity of a Live High Pathogenic PRRSV Vaccine Candidate with a 32-Amino Acid Deletion in the nsp2 Protein by Wenhui Lu, Baoli Sun, Jianyue Mo, Xiduo Zeng, Guanqun Zhang, Lianxiang Wang, Qingfeng Zhou, Ling Zhu, Zhili Li, Qingmei Xie, Yinzuo Bi, Jingyun Ma

“…The results showed that after 100 passages, compared to QY1 P5, a total of 32 amino acid mutations were found. Moreover, there were one nucleotide deletion and a unique 34-amino acid deletion found at 5′UTR and in nsp2 gene during the attenuation process, respectively. …”
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Insulinomas: Comprehensive Review of Epidemiology, Pathophysiology, Clinical Manifestations, Diagnostic Approaches, and Treatment Options by Joanna Rychlewska-Duda, Justyna Lisiecka, Mateusz Janik, Barbara Ufnalska, Anna Konarska, Artur Fabijański, Anna Machowiak, Michał Nowak, Wojciech Firlej, Adriana Daria Dukacz

“…Insulinomas can be sporadic or associated with Multiple Endocrine Neoplasia Type 1 (MEN-1) syndrome, a genetic disorder caused by mutations in the MEN1 gene. MEN-1-associated insulinomas are often diagnosed earlier and may present as multicentric lesions, whereas sporadic insulinomas are typically solitary and benign. …”
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A guide to selecting high-performing antibodies for Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D) for use in Western Blot, immunoprecipi... by Carl Laflamme, Kathleen Southern, Riham Ayoubi, Maryam Fotouhi, Charles Alende

“…Abundantly expressed in the brain and involved in a broad range of cellular processes, PPP2R5D plays an essential role in modulating key neuronal pathways and signalling. Pathogenic mutations in the PPP2R5D gene are linked to clinical symptoms characterized by neurodevelopmental delay, intellectual disability, and autism spectrum disorders. …”
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X-Linked Lymphoproliferative Syndrome and Common Variable Immunodeficiency May Not Be Differentiated by SH2D1A and XIAP/BIRC4 Genes Sequence Analysis by Nesrin Gulez, Guzide Aksu, Afig Berdeli, Neslihan Karaca, Sema Tanrıverdi, Necil Kutukculer, Elif Azarsiz

“…The clinical and laboratory resemblance, no gene mutations, and normal XIAP protein expression led us to think that there may be another responsible gene for XLP. …”
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Dual Functions of the C5a Receptor as a Connector for the K562 Erythroblast-Like Cell-THP-1 Macrophage-Like Cell Island and as a Sensor for the Differentiation of the K562 Erythrob... by Hiroshi Nishiura, Rui Zhao, Tetsuro Yamamoto

“…In contrast to the extraribosomal functions of the RP S19, a proapoptotic signal in pro-EBs, which is caused by mutations in the RP S19 gene, is associated with the inherited erythroblastopenia, Diamond-Blackfan anaemia. …”
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Conserved Nuclear Localization Signal in NS2 Protein of Bombyx Mori Bidensovirus: A Potential Invertebrate ssDNA Virus Trait by Qian Yu, Jiaxin Yan, Ying Chen, Jinfeng Zhang, Qi Tang, Feifei Zhu, Lindan Sun, Shangshang Ma, Xiaoyong Liu, Keping Chen, Qin Yao

“…To investigate its structure and function, we employed phylogenetic analysis, subcellular localization, mutational analysis, and a dual-luciferase reporter system to characterize the nuclear localization signal (NLS) within NS2 and its effect on viral promoter activity. …”
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