Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations by Francisco José Toja-Camba, María Vidal-Millares, María José Durán-Maseda, Gonzalo Hermelo-Vidal, Ángel Carracedo, Olalla Maroñas, Luis Ramudo-Cela, Irene Zarra-Ferro, Anxo Fernández-Ferreiro, Cristina Mondelo-García

“…There was a clear trend towards lower ARI concentrations and higher DHA concentrations when the presence of mutated T alleles increases. The ABCB1 gene could be a good partner along with CYP2D6 and CYP3A4 genotyping in conjunction with monitoring ARI plasma concentrations.…”
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Assessment of the Diversity of Tomato (Solanum Lycopersicum L.) Accessions in the Nigeria National Gene Bank Using Simple Sequence Repeat (SSR) Markers by Olabisi Olajire, Olusola Oduoye, Zainab Jamaleddine, Olatunde Fajimi, David Coker, Abiodun Sunday, Opeyemi Oluwasanya, Best Anukwu, Abiodun Ogundele, Omowumi Ayekun, Yetunde Amos

“…High-quality DNA was then used for amplification with five polymorphic SSR markers. The total number of alleles was 23, with a mean of 3.20. The polymorphic information content (PIC) values ranged from 0.35 (ODT4) to 0.50 (ODT1), with a mean value of 0.43, while the gene diversity ranged from 0.45 to 0.57, with a mean value of 0.51. …”
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Haplotype analysis incorporating ancestral origins identified novel genetic loci associated with chicken body weight using an advanced intercross line by Lina Bu, Yuzhe Wang, Lizhi Tan, Zilong Wen, Xiaoxiang Hu, Zhiwu Zhang, Yiqiang Zhao

“…The proposed ancestral-haplotype-based GWAS (testing only the origin regardless of the alleles) revealed three new QTLs on GGA12, GGA15, and GGA20. …”
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<i>Salmonella</i> and <i>Yersinia enterocolitica</i> through the pig meat chain in Sardinia: occurrence, antimicrobial resistance and genetic insight by Giuliana Siddi, Francesca Piras, Maria Pina Meloni, Mattia Migoni, Mario Cuccu, Fabrizio Simbula, Eleonora Serra, Luigi Crobu, Myriam Casula, Fabiana Manca, Alessio Sau, Pernille Gymoese, Maria Fredriksson-Ahomaa, Enrico Pietro Luigi De Santis, Christian Scarano

“…Goldcoast ST358, with few allelic differences among isolates of the same ST. …”
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Leaf reflectance and physiological attributes monitoring differentiate rice cultivars under drought-stress and non-stress conditions by Kossi Lorimpo Adjah, Maxwell Darko Asante, Michael Frei, Aboubacar Toure, Mawuli Aziadekey, Linbo Wu, Andriele Wairich, Daniel Dzorkpe Gamenyah, Shailesh Yadav

“…Genotypes UPLR-17 and APO consistently showed homozygosity status for the favorable alleles G, A, G and C for drought-tolerant QTLs DTY1.1 (snpOS00400), DTY1.1 (snpOS00402), DTY1.1 (snpOS00408) and DTY12.1 (snpOS00483), respectively, confirming their drought tolerance status. …”
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Multiplexed SSR marker analysis of Diplocarpon coronariae reveals clonality within samples from Middle Europe and genetic distance from Asian and North American isolates by Thomas Oberhänsli, Anna Dalbosco, Virginie Leschenne, Anne Bohr, Sascha Buchleither, Lucius Tamm, Lukas Wille, Srđan G. Aćimović, Fatemeh Khodadadi, Young-Hyun Ryu, Bruno Studer, Hans-Jakob Schärer, Andrea Patocchi

“…The European samples had the typical genetic signature of a recently introduced species including high clonality, a low number of private alleles and one dominant MLG across all the sampling sites. …”
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Interleukin-10 Polymorphisms in Association with Prognosis in Patients with B-Cell Lymphoma Treated by R-CHOP by Min Kyeong Kim, Kyong-Ah Yoon, Eun Young Park, Jungnam Joo, Eun Young Lee, Hyeon-Seok Eom, Sun-Young Kong

“…A total of four polymorphisms in IL10 with heterozygous alleles were analyzed for hazard ratios of overall survival (OS) and progression-free survival (PFS) using Cox proportional hazards regression analysis. …”
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The effect of a dominant kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy on brain development and neuropathology by Jennifer Stables, Reiss Pal, Barry M. Bradford, Dylan Carter-Cusack, Isis Taylor, Clare Pridans, Nemat Khan, Trent M. Woodruff, Katharine M. Irvine, Kim M. Summers, Neil A. Mabbott, David A. Hume

“…We speculated that leukoencephalopathy in humans requires an environmental trigger and/or epistatic interaction with common neurodegenerative disease-associated alleles. Here we examine the Csf1rE631K/+ mutation impact on microglial phenotype, postnatal brain development, age-related changes in gene expression and on prion disease and experimental autoimmune encephalitis (EAE), two pathologies in which microgliosis is a prominent feature. …”
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Interindividual Variation in Gut Nitrergic Neuron Density Is Regulated By GDNF Levels and ETV1Summary by Heikki T. Virtanen, Peyman Choopanian, L. Lauriina Porokuokka, Richard Forsgård, Daniel R. Garton, Soophie Olfat, Riitta Korpela, Mehdi Mirzaie, Jaan-Olle Andressoo

“…To establish cause-consequence relationship we used alleles in mice that allow levels change of the candidate effector molecule in the comparable range to human samples. …”
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<i>Smad4</i> Heterozygous Knockout Effect on Pancreatic and Body Weight in F1 Population Using Collaborative Cross Lines by Osayd Zohud, Iqbal M. Lone, Kareem Midlej, Aysar Nashef, Fuad A. Iraqi

“…Genotyping confirmed the presence of <i>Smad4</i> knockout alleles. Mice were housed under standard conditions, euthanized at 80 weeks, and their pancreatic weights were measured, adjusted for body weight, and analyzed for effects of Smad4 deficiency, sex, and genetic background. …”
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The importance of genotyping within the climate-smart plant breeding value chain – integrative tools for genetic enhancement programs by Ana Luísa Garcia-Oliveira, Rodomiro Ortiz, Fatma Sarsu, Søren K. Rasmussen, Paterne Agre, Asrat Asfaw, Moctar Kante, Subhash Chander

“…Most economically important traits in crops are controlled by multiple loci often with recessive alleles. Considering particularly Africa, this continent has several agro-climatic zones, hence crops need to be adapted to these. …”
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Leveraging computer-aided design and artificial intelligence to develop a next-generation multi-epitope tuberculosis vaccine candidate by Li Zhuang, Awais Ali, Ling Yang, Zhaoyang Ye, Linsheng Li, Ruizi Ni, Yajing An, Syed Luqman Ali, Wenping Gong

“…Moreover, ZL12138L showed high population coverage for human leukocyte antigen class I and II alleles, reaching 92.41% and 90.17%, respectively, globally. …”
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The associations between single nucleotide polymorphisms and diabetic retinopathy risk: an umbrella review by Shaofen Huang, Yonghui Feng, Ying Sun, Jiazi Liu, Pu Wang, Jingrong Yu, Xin Su, Shasha Han, Shiqi Huang, Haokun Huang, Shiyun Chen, Ying Xu, Fangfang Zeng

“…Carriers of specific genotypes and alleles of the transcription Factor 7-like 2 C/T (TCF7L2 C/T) polymorphism (rs7903146, p &lt; 0.001) might be more susceptible to the occurrence of DR in the homozygous and recessive models, and these associations were supported by “convincing” evidence. …”
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Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome by Gudrun Schottmann, Carmen Martínez Almudéver, Julia C. M. Knop, Eun Kyung Suk, Zianka Meyer, Jürgen Kohlhase, Nastassja Himmelreich, Nastassja Himmelreich, Jirko Kühnisch, Jirko Kühnisch, Claus-Eric Ott, Wenke Seifert

“…CS is predominantly caused by rare homozygous or compound heterozygous pathogenic variants in the vacuolar protein sorting-associated 13B (VPS13B) gene, which disrupt protein translation and lead to a loss of function (LoF) of the encoded VPS13B protein.MethodsThe widespread incorporation of next-generation sequencing approaches in genetic diagnostics increases the number of individuals carrying VPS13B mutant alleles. At the same time, it increases the detection of variants of unknown clinical significance, necessitating further functional pathogenicity validation.ResultsIn this study, we present a family with two CS patients. …”
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Association Between GSK3β Gene Polymorphisms (rs334558 and rs3755557) with Schizophrenia Risk by Maryam Montazeri Dehbarez, Dormohammad Kordi Tamandani, Nasim Naeimi, Shahram Vaziri, Mohammad Shekari

“…The frequency of genotypes, alleles, and the Hardy-Weinberg equilibrium were evaluated. …”
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mtlA, a novel typing gene offering enhanced resolution for pandemic Vibrio species by Lei Zhou, Danlei Liu, Zilong Zhang, Yongqiang Zhu, Huajun Zheng

“…The results revealed that the mtlA gene was present in all common pathogenic species, providing comparable or even higher typing resolution than MLST, especially in Vibrio cholerae, Vibrio alginolyticus, Vibrio harveyi, and Vibrio anguillarum, enabling accurate typing and traceability; however, many species lacked allelic profiles of MLST genes, making it impossible to obtain accurate STs. …”
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Population Genetic Characteristics of Siberian Roe Deer in the Cold Temperate Forest Ecosystem of the Greater Khingan Mountains, Northeast China by Xinxin Liu, Yang Hong, Jinhao Guo, Ning Zhang, Shaochun Zhou, Lu Jin, Xiaoqian Ma, Ziao Yuan, Hairong Du, Minghai Zhang, Jialong Wang

“…The evaluation of 14 pairs of microsatellite loci showed that the average number of alleles was 11.2, and the average expected and observed heterozygosity were 0.672 and 0.506, respectively. …”
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Similar deficiencies, different outcomes: succinate dehydrogenase loss in adrenal medulla vs. fibroblast cell culture models of paraganglioma by Fatimah J. Al Khazal, Sanjana Mahadev Bhat, Yuxiang Zhu, Cristina M. de Araujo Correia, Sherry X. Zhou, Brandon A. Wilbanks, Clifford D. Folmes, Gary C. Sieck, Judith Favier, L. James Maher

“…Abstract Heterozygosity for loss-of‐function alleles of the genes encoding the four subunits of succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD), as well as the SDHAF2 assembly factor predispose affected individuals to pheochromocytoma and paraganglioma (PPGL), two rare neuroendocrine tumors that arise from neural crest-derived paraganglia. …”
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Hypoxia-inducible factor 1α is required to establish the larval glycolytic program in Drosophila melanogaster by Yasaman Heidarian, Tess D. Fasteen, Liam Mungcal, Kasun Buddika, Nader H. Mahmoudzadeh, Travis Nemkov, Angelo D'Alessandro, Jason M. Tennessen

“…Methods: CRISPR/Cas9 was used to generate new loss-of-function alleles in the Drosophila gene similar (sima), which encodes the sole fly ortholog of Hif1α. …”
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Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions? by Leila Shahbaznejad, Sayed-Reza Raeeskarami, Raheleh Assari, Abbas Shakoori, Hamidreza Azhideh, Yahya Aghighi, Fatemeh Tahghighi, Vahid Ziaee

“…Nine (21%) of the patients had homozygote, 16 (37%) compound heterozygote, and 17(40%) heterozygote for MEFV mutation; there was a case of complex alleles mutations (2%). M694V/M694V in 4 patients (9%) was the most homozygote genotype, and M694V/R761H in 4 (9%) and E148Q in 7 (16%) were the most compound heterozygote and heterozygote genotype, respectively. …”
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