Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy by Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen

“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). …”
Get full text

Identification of HOXA9 methylation as an epigenetic biomarker predicting prognosis and guiding treatment choice in acute myeloid leukemia by Fei Xie, Ting-juan Zhang, Xin-long Zhang, Zi-jun Xu, Liang Qiao, Yun Wang, Yang-jing Zhao, Jun Qian, Jing-dong Zhou

“…HOXA overexpression caused by genetic alterations, such as KMT2A rearrangements, NUP98- fusions and FLT3-ITD mutations, is frequently identified in AML. However, very few studies determined the DNA methylation-mediated epigenetic regulation of the HOXA cluster genes in AML. …”
Get full text

Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis by Yossawat Suwanlikit, Bhakbhoom Panthan, Pawares Chitayanan, Sommon Klumsathian, Angkana Charoenyingwattana, Wasun Chantratita, Objoon Trachoo

“…A robust molecular approach was devised for rapid detection of nine prevalent CYP21A2 pathogenic variants, utilizing Amplification-Refractory Mutation System (ARMS) PCR and mass spectrometry (MS) genotyping. …”
Get full text

In silico evaluation of missense SNPs in cancer-associated Cystatin A protein and their potential to disrupt Cathepsin B interaction by Shafaat Hossain, Omar Hamza Bin Manjur, Mst Sharmin Sultana Shimu, Tamanna Sultana, Mustafizur Rahman Naim, Shahariar Siddique, Abdullah Al Mamun, Md Miftaur Rahman, Md Abu Saleh, Md Rakibul Hasan, Tania Rahman

“…Cystatin A (CSTA) functions as a cysteine protease inhibitor by forming tight complexes with the cathepsins. Pathogenic mutations in the CSTA gene can disrupt this interaction, potentially leading to physiological ailments. …”
Get full text

Antimicrobial Susceptibility of <i>Glaesserella parasuis</i> to Macrolides and Characterization of <i>erm</i>(T)-Carrying Mobile Elements on Chromosome by Peng Zhang, Changmin Li, Shuna Shang, Ting Huang, Junqi Liu, Qianwen Ge, Xiaoping Liao, Liangxing Fang, Yang Yu

“…The macrolide resistance gene <i>erm</i>(T) and the A2059G mutation in 23S rRNA were detected in the current study. …”
Get full text

Adjunctive diagnostic tool for histopathological classification of congenital mesoblastic nephroma based in molecular genetic findings by Hiroshi Hamada, Kenichi Kohashi, Takeshi Iwasaki, Mikiko Hashisako, Yuko Hino, Masahiro Fukuhara, Amane Kamouchi, Naonori Kawakubo, Tatsuro Tajiri, Yoshinao Oda

“…Results PCA revealed differences in mutation patterns between the EGFR-ITDs and NTRK fusion tumor groups. …”
Get full text

Highly Aggressive CD4-Positive Mast Cell Leukaemia (Leukaemic Variant) Associated with Isolated Trisomy 19 and Hemophagocytosis by Neoplastic Mast Cells: A Case Report with Challen... by Dina Sameh Soliman, Ahmad Al-Sabbagh, Feryal Ibrahim, Amna Gameil, Mohamed Yassin, Halima El-Omri

“…Molecular analysis revealed a KIT D816V mutation consistent with a diagnosis of systemic mastocytosis, mast cell leukaemia. …”
Get full text

Expression of Leptin Receptor and Effects of Leptin on Papillary Thyroid Carcinoma Cells by Marilena Celano, Valentina Maggisano, Saverio Massimo Lepore, Marialuisa Sponziello, Valeria Pecce, Antonella Verrienti, Cosimo Durante, Marianna Maranghi, Piernatale Lucia, Stefania Bulotta, Giuseppe Damante, Diego Russo

“…The expression levels of OB-R mRNA and protein were also investigated in vivo in a series of aggressive PTCs divided into two groups based on the presence of the BRAF mutation. Results. In TPC-1 and K1 cells, prolonged treatment with leptin (500 ng/ml for 96 h) resulted in a mild increase in the proliferation (about 20% over control only in K1 cells, p<0.05) and in the migration of both cancer cell lines. …”
Get full text

A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant by Alessio Cortelazzo, Roberto Guerranti, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Claudia Landi, Luca Bini, Barbara Montomoli, Claudia Sticozzi, Lucia Ciccoli, Giuseppe Valacchi, Joussef Hayek

“…Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). …”
Get full text

A comprehensive analysis of molecular characteristics of hot and cold tumor of gastric cancer by Chenxi Lv, Tianwei Chen, Jiangtao Li, Yuqiang Shan, Hong Zhou

“…Methods Consensus clustering was utilized to classify GC patients into distinct immune states, followed by an in-depth analysis of differences in mutation profiles, copy number variations, and DNA methylation patterns. …”
Get full text

Research on therapeutic clinical trials including immunotherapy in triple-negative breast cancer: a bibliometric analysis by Qi Xu, Xiaoyu Feng, Siyuan Qin, Yu Hong, Rui Cui, Jia Liang, Zhuya Xiao, Yuan Li

“…Immunotherapy is also highlighted with additional alternatives for advanced or metastasized TNBC, such as targeted inhibitors with unusual mutation rates and antibody drug conjugates (ADC).ConclusionsThis investigation made it apparent how immunotherapy has recently made major advancements in TNBC treatment plans and how ADCs, or targeted therapies, are currently popular for TNBC. …”
Get full text

Adverse drug events (ADEs) risk signal mining related to eculizumab based on the FARES database by Xi-Feng Wang, Lu-Ri Bao, Ta-La Hu, Rui-Feng Xu, Wu-Niri Gao, Jing-Yuan Wang, Jian-Rong Zhao, Zhen-Li Fu, Shu-Fang Wang, Yan Meng

“…Some PTs, such as aplastic anemia, gene mutation, mastication disorder, kidney fibrosis, BK virus infection, abnormal neutrophil count, C3 glomerulopathy, neuroblastoma, and glomerulonephritis membranoproliferative, were also detected outside the instructions. …”
Get full text

Analysis of population structure and genetic diversity in a Southern African soybean collection based on single nucleotide polymorphism markers by A. Tsindi, J. S. Y. Eleblu, E. Gasura, H. Mushoriwa, P. Tongoona, E. Y. Danquah, L. Mwadzingeni, M. Zikhali, E. Ziramba, G. Mabuyaye, J. Derera

“…Innovation strategies for improving genetic variability in the germplasm collection, such as investments in pre-breeding, increasing the geographic sources of introductions and exploitation of mutation breeding would be recommended to enhance genetic gain.…”
Get full text

The inheritance pattern for the dwarf phenotype in hybrids from crosses among sunflower lines differing in alleles of the <i>Rht1</i> locus by I. N. Anisimova, G. V. Khafizova, L. G. Makarova, N. V. Alpatieva, M. K. Ryazanova, O. M. Borisenko, V. A. Gavrilova

“…The CAPS marker G-D-1/ Bmt I was developed to identify a missense mutation T&gt;C in the first exon of the HaDella1 gene, which results in the substitution of leucine with proline in the DELLA motif. …”
Get full text

Occurrence of macrolides resistance in Legionella pneumophila ST188: Results of the Belgian epidemiology and resistome investigation of clinical isolates by Charlotte Michel, Fedoua Echahidi, Geraldine De Muylder, Max Sewell, Ian Boostrom, Olivier Denis, Owen B. Spiller, Denis Pierard

“…A total of 283 clinical isolates were typed by core genome multi-locus sequence typing (cgMLST). Acquired genes or mutations triggering resistance were extracted from all of them. …”
Get full text

A Mitochondria‐Related Signature in Diffuse Large B‐Cell Lymphoma: Prognosis, Immune and Therapeutic Features by Zhen‐Zhong Zhou, Jia‐Chen Lu, Song‐Bin Guo, Xiao‐Peng Tian, Hai‐Long Li, Hui Zhou, Wei‐Juan Huang

“…Gene pathway level, microenvironment, expression of targeted therapy‐associated genes, response to immunotherapy, drug sensitivity, and somatic mutation status were compared between clusters. Results Eighteen prognostic MRGs (DNM1L, PUSL1, CHCHD4, COX7A1, CPT1A, CYP27A1, POLDIP2, PCK2, MRPL2, PDK3, PDK4, MARC2, ACSM3, COA7, THNSL1, ATAD3B, C15orf48, TOMM70A) were identified to construct the risk model. …”
Get full text

Aplikasi Pertimbangan Wisata di Pulau Lombok dengan Metode Fuzzy Mamdani & Algoritma Genetika by Zainul Harir, Ida Bagus Ketut Widiartha, Royana Afwani

“…Genetic Algorithm (GA) is used in providing optimal budget allocation in traveling on Lombok IslandThe results of testing with manual calculations and different defuzzification models have 100% accurate, the application of GA obtained optimal budget allocation on crossover probability (pc) and mutation probability (pm) combination with (pc) 0.7 and (pm) 0.2. …”
Get full text

Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature by Hassan Shehata, Ranjit Akolekar, Amanda Ali, Mariane Silva-Edge, Shahla Haroon, Abdullatif Elfituri, Radhika Viswanatha, Haider Jan

“…All patients had three or more first trimester miscarriages and a full thrombophilia screen.Results The overall prevalence of thrombophilia in our study population is 9.2% (106/1155) with 8.1% (94/1155) of cases positive for inherited thrombophilia, which is similar to the general population; Factor V Leiden (4.9%; 57/1155) and prothrombin gene mutation (2.9%; 34/1155) were the most common inherited thrombophilias, while only 1% (12/1155) tested positive for acquired thrombophilia. …”
Get full text

Cost-Benefit Analysis of Genetic Testing as a Prenatal Diagnostic Tool for Thalassemia: A Single-Center Study From Central Thailand by Malasai K, Jittikoon J, Udomsinprasert W, Talungchit P, Youngkong S, Sangroongruangsri S, Mahasirimongkol S, Chaikledkaew U

“…Kwandao Malasai,1,2 Jiraphun Jittikoon,3 Wanvisa Udomsinprasert,3 Pattarawalai Talungchit,4,5 Sitaporn Youngkong,5,6 Sermsiri Sangroongruangsri,6 Surakameth Mahasirimongkol,7 Usa Chaikledkaew5,6 1Social, Economic and Administrative Pharmacy (SEAP) Graduate Program, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand; 2Social Pharmacy Research Unit, Faculty of Pharmacy, Mahasarakham University, Maha Sarakham, Thailand; 3Department of Biochemistry, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand; 4Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; 5Mahidol University Health Technology Assessment (MUHTA) Graduate Program, Mahidol University, Bangkok, Thailand; 6Social and Administrative Pharmacy Division, Department of Pharmacy, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand; 7Information and Communication Technology Center, Office of the Permanent Secretary, Ministry of Public Health, Nonthaburi, ThailandCorrespondence: Usa Chaikledkaew, Social and Administrative Pharmacy Division, Department of Pharmacy, Faculty of Pharmacy, Mahidol University, 447 Sri-Ayudhaya Road, Rachathewi, Phayathai, Bangkok, 10400, Thailand, Email usa.chi@mahidol.ac.thPurpose: This study aimed to evaluate the costs and benefits of genetic testing, specifically mutation analysis and prenatal diagnostic testing, for the confirmation of thalassemia in at-risk pregnancies in Thailand, providing crucial insights to inform public health policy decision-making.Patients and Methods: We analyzed the costs and benefits of following standard screening guidelines, which included a sequence of tests such as mean corpuscular volume (MCV)/mean corpuscular hemoglobin (MCH) with dichlorophenol indophenol precipitation (DCIP), hemoglobin (Hb) typing, genetic testing, and amniocentesis. …”
Get full text

Homologous recombination deficiency test validation in patients with high-grade advanced ovarian cancer by Angelica Nogueira Rodrigues, Andreza Karine de Barros Almeida Souto, Diocésio Alves Pinto de Andrade, Larissa Müller Gomes, Sandra Satie Koide, Renata de Godoy e Silva, Bruno Batista de Souza, Juliana Doblas Massaro, Andréia Cristina de Melo, Andrea Morais Borges, Camila Giro, Carlos Augusto Vasconcelos de Andrade, Cesar Martins da Costa, Daniel Luiz Gimenes, Eduardo Caminha Bandeira de Mello, Fernanda Cesar de Oliveira, Frederico Müller de Toledo Lima, Gabriel Lima Lopes, Gustavo de Oliveira Bretas, Gustavo Guerra Jacob, Herika Lucia da Costa Silva, Juliana Ferrari Notaro, Lara Ladislau Alves, Marcos Veloso Moitinho, Mirian Cristina da Silva, Roberto Abramoff, Thais Amaral da Cunha Rauber, Rodrigo Dienstmann, Fernanda Christtanini Koyama

“…BackgroundAlong with BRCA mutation status, homologous recombination deficiency (HRD) testing is a prognostic and predictive biomarker for poly-ADP-ribose polymerase (PARP) inhibitor therapy indication in high-grade epithelial ovarian, fallopian tube, or peritoneal cancer. …”
Get full text