Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA by Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina, Cristiana Stuani, Emanuele Buratti, Andrea Dardis

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Methodical approaches in experimental modelling of non-alcoholic fatty liver disease by N. V. Bivalkevich, Yu. K. Denisenko, T. P. Novgorodtseva

“…Genetic models are subdivided into two categories. …”
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Phenotypic and Allelic Distribution of the ABO and Rhesus Blood Groups among students at Hawassa University, Ethiopia by Mihret A. Hailu, Wendawek A. Mengesha, Zelalem G. Tolesa

“…The present study will generate baseline data that could be used in blood bank management and transfusion, genetic counseling, population genetic and anthropological studies, and for disease management. …”
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Forecasting Range Shifts in Terrestrial Alpine Insects Under Global Warming by Fabio Leonardo Meza‐Joya, Mary Morgan‐Richards, Steven A. Trewick

“…Upslope shifts are often accompanied by range contractions that are expected to diminish species genetic variation and adaptive potential, increasing extinction risk. …”
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DN Testing as a Branch of Forensic Technology: Problems of Formation and Directions of Development by R. L. Stepaniuk, S. I. Perlin

“…The authors have offered to define forensic DNA analysis as the branch of forensic technology that studies individual genetic characteristics of living organisms contained in their DNA, in order to identify them and solve diagnostic tasks in the detection and investigation of criminal offenses. …”
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A synchronous occurrence of breast cancer and pleural mesothelioma: a case report by Zaheer Ahmad, Hashir Jehanzeb, Saad Noor Hussain, M. Umar, Humna Saleem

“…However, a few studies have reported cases of malignant pleural mesothelioma resulting from non-asbestos factors, including radiotherapy for breast cancer, viruses, chronic inflammation, and BRCA1-associated protein-1-associated genetic mutations. Breast cancer is the most common sporadic cancer among women, and a small percentage of cases are related to genetic factors, such as BRCA1/2 and BRCA1-associated protein-1 mutations. …”
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TAS2R38 genotype and CRS severity in children with cystic fibrosis by Elena Cantone, Antonella Tosco, Angela Sepe, Valeria Raia, Rossella Negri, Alice Castaldo, Chiara Cimbalo, Paolo Pezzella, Mario Brandon Russo, Giusi Grimaldi, Claudio Di Nola, Luigi Greco

“…Conclusions: The findings highlight the role of TAS2R38 as a potential genetic modifier influencing the severity of chronic rhinosinusitis in children with cystic fibrosis. …”
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Cryptic species and hybridisation in corals: challenges and opportunities for conservation and restoration by Riginos, Cynthia, Popovic, Iva, Meziere, Zoe, Garcia, Vhon, Byrne, Ilha, Howitt, Samantha M., Ishida, Hisatake, Bairos-Novak, Kevin, Humanes, Adriana, Scharfenstein, Hugo, Richards, Thomas, Briggs, Ethan, Clark, Vanessa, Lei, Chuan, Khan, Mariam, Prata, Katharine E.

“…However, the true diversity of corals may be obfuscated by cryptic yet genetically distinct groups, which are likely more pervasive than currently recognised. …”
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Phenotypic and Allelic Distribution of the ABO and Rhesus Blood Groups among students at Hawassa University, Ethiopia by Mihret A. Hailu, Wendawek A. Mengesha, Zelalem G. Tolesa

“…The present study will generate baseline data that could be used in blood bank management and transfusion, genetic counseling, population genetic and anthropological studies, and for disease management. …”
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Causal association between non-thyroidal autoimmune diseases and Graves' ophthalmopathy: A mendelian randomization study by Lan Ma, Xue Jiang, Zhijia Hou, Dongmei Li

“…Purpose: This Mendelian randomization (MR) analysis study aimed to investigate the genetic causal relationship between non-thyroidal autoimmune diseases (ADs) and Graves' ophthalmopathy (GO). …”
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A genomic analysis of twinning rate and its relationship with other reproductive traits in Holstein-Friesian cattle by Brian W. Kirkpatrick, Donagh P. Berry

“…Twinning rate was very weakly genetically correlated with both milk yield (0.13) and the reproductive traits (−0.26 to 0.14). …”
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Transcriptomics Analysis Reveals Differences in Purine and Phenylpropanoid Biosynthesis Pathways Between <i>Camellia sinensis</i> var. Shuchazao and <i>Camellia ptilophylla</i> by Waqar Khan, Peng Zheng, Binmei Sun, Shaoqun Liu

“…Tea production and quality are largely determined by the many genetic and biochemical characteristics that occur in tea plant cultivars. …”
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Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design by Hiroshi Matsumoto, Akihiro Nomura, Hayato Tada, Hirofumi Okada, Atsushi Nohara, Masa-aki Kawashiri, Koji Maeno, Manabu Fujimoto, Shohei Yoshida, Masaya Shimojima, Toyonobu Tsuda, Mika Mori, Shin-ichiro Takashima, Takeshi Kato, Soichiro Usui, Kenji Sakata, Kenshi Hayashi, Noboru Fujino, Akihiro Inazu, Shizuko Takahara, Yasuhito Imai, Takao Matsubara, Kenji Miwa, Masanobu Namura, Hidenobu Terai, Taiji Yoshida, Tsutomu Araki, Masahiro Minamoto, Toru Aburao, Yuji Ito, Chiaki Nakanishi, Suguru Kawasaki, Yasuhiro Todo, Junji Koizumi, Yoshihito Kita, Hiroaki Shintaku, Akihiko Hodatsu, Hidekazu Ino, Toshinori Higashikata, Mutsuko Takata, Katsushi Misawa, Masato Yamaguchi, Yoshihiro Noji, Kazuo Osato, Tomohito Mabuchi, Taro Ichise, Bunji Kaku, Shoji Katsuda, Katsuharu Uchiyama, Kensuke Fujioka, Takuya Nakahashi, Tsuyoshi Nozue, Ichiro Michishita, Kazuo Usuda, Kanichi Otowa, Kazuyasu Okeie, Satoshi Hirota, Isao Aburadani, Keisuke Kurokawa, Osamu Takatori, Shunichiro Hondo, Hiroyuki Oda, Shigeo Takata, Hisayoshi Murai, Masaki Kinoshita, Hideo Nagai, Yoshiteru Sekiguchi, Satoru Sakagami, Wataru Omi, Chikara Fujita, Tatsuo Katsuki, Hiroshi Ootsuji, Atsushi Igarashi, Manabu Nakano, Seiichiro Okura, Yasuhito Mitamura, Naoki Sugimoto, Masakazu Yamamoto, Hironobu Akao, Kouji Kajinami, Masayuki Takamura

“…Introduction Familial hypercholesterolaemia (FH) is an autosomal-dominant inherited genetic disease. It carries an extremely high cardiovascular risk associated with significantly elevated low-density lipoprotein (LDL) cholesterol. …”
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Unraveling the pathogenesis of Barrett’s esophagus and esophageal adenocarcinoma: the “omics” era by Alberto Barchi, Giuseppe Dell’Anna, Giuseppe Dell’Anna, Luca Massimino, Luca Massimino, Francesco Vito Mandarino, Edoardo Vespa, Edi Viale, Sandro Passaretti, Vito Annese, Vito Annese, Alberto Malesci, Alberto Malesci, Silvio Danese, Silvio Danese, Federica Ungaro

“…Increasing interest has been gathered around small circulating genetic traces (circulating-free DNA and micro-RNAs) with a potential role as blood biomarkers. …”
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Cxcr1 gene snp variability that affects mastitis resistance in holstein cows in türkiye by Kozet AVANUS, Alper YILMAZ, Halil GÜNEŞ, Ahmet ALTINEL, Bülent EKİZ, Hülya YALÇINTAN, Dilara KEÇİCİ, Nurşen DOĞAN

“…Furthermore, the absence of heterozygotes at loci c.1119+6C, c.1119+7A, and c.1119+10, which are located on untranslated regions (UTRs), potentially affecting gene expression by regulating mRNA stability, localization, or translation initiation, points to genetic drift or population substructure. These findings are important for understanding genetic variability and can inform marker-assisted selection programs to enhance breeding strategies while preserving genetic diversity for traits like disease resistance and milk production.…”
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Single Nucleotide Polymorphisms in PPARD Associated with Systemic Lupus Erythematosus in Chinese Populations by Yuan-yuan Qi, Ya-ling Zhai, Xin-ran Liu, Xiao-xue Zhang, Ya-fei Zhao, Xiang-hui Ning, Zhan-Zheng Zhao

“…Biological studies had provided solid foundation of PPARD involvement in SLE; it is worthwhile to further explore the genetic contribution of PPARD to SLE. Methods. We performed a discovery-replication genetic association study. …”
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De novo transcriptome assembly and discovery of drought-responsive genes in white spruce (Picea glauca). by Zoé Ribeyre, Claire Depardieu, Julien Prunier, Gervais Pelletier, Geneviève J Parent, John Mackay, Arnaud Droit, Jean Bousquet, Philippe Nolet, Christian Messier

“…In addition, it provides a valuable source of new genetic data that could contribute to genetic selection strategies aimed at enhancing the drought resistance and resilience of white spruce to changing climates.…”
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A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient by Li Yang, Xingyu Wan, Ran Hua, Junhong Jiang, Baotian Wang, Rui Tao, De Wu

“…Methods Genetic diagnosis was performed using trio‐whole exome sequencing, followed by bioinformatics predictions of pathogenicity. …”
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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

“…Background: Chronic periodontitis, a chronic inflammatory condition of periodontal tissue, can occur due to microorganisms as a local factor and genetic as a systemic factor. Genetic factors that cause chronic periodontitis, namely mutations in the form of a gene that functions to regulate calcium homeostasis, which is called the vitamin D receptor (VDR) gene. …”
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Long-Term Salinity-Responsive Transcriptome in Advanced Breeding Lines of Tomato by Monther T. Sadder, Ahmad Abdelrahim Mohamed Ali, Abdullah A. Alsadon, Mahmoud A. Wahb-Allah

“…In contrast, the salt-susceptible genotype L46 shows some potential genetic background. Both genotypes have great potential in future breeding programs.…”
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