Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population by Inbal Halabi, Inbal Halabi, Yardena Tenenbaum-Rakover, Yardena Tenenbaum-Rakover, Lena Sagi-Dain, Lena Sagi-Dain, Lena Sagi-Dain, Ilana Koren, Ilana Koren, Ilana Koren

“…Clinical, biochemical, and genetic data were retrieved retrospectively from their medical files.ResultsAll five patients carried the same previously reported homozygous WFS1 pathogenic variant: c.2649del, p.Phe884fs. …”
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Single-nucleotide variant rs1800139 of the LRP1 gene as a factor in the development of obesity in children by O.Ye. Abaturov, A.O. Nikulina

“…In patients with MUO, both homozygous genotypes of SNV rs1800139 of the LRP1 gene occurred significantly less frequently than in the general human population (p<0.05). …”
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Achievements and prospects of applying high-throughput sequencing techniques to potato genetics and breeding by I. V. Bykova, N. A. Shmakov, D. A. Afonnikov, A. V. Kochetov, E. K. Khlestkina

“…In genetic studies diploids are used often, including diploid potato species, artificially obtained heterozygous dihaploids and homozygous double monoploids. The availability of artificially created diploid forms played an essential role in potato genome sequencing, which was completed in 2011. …”
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Serum levels of Wnt5a in Egyptian women with obesity and their association with toll like receptor 2 Arg753Gln gene polymorphism in a pilot case control study of obesity as a state... by Shaimaa H. Fouad, Mai Eldeeb, Shereen A. Baioumy, Sara I. Taha, Rehab Ali Ibrahim, Aya Elgendy, Azza Omran, Marwa Hamdy, Raed A. Alharbi, Abdulmajeed A. A. Sindi, Sylvia W. Roman

“…According to TLR2 (Arg753Gln) SNP, the homozygous GG genotype was associated with elevated levels of Wnt5a, leptin, and TNF-α compared to the AA + GA model carriers. …”
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Novel Graphical Analyses of Runs of Homozygosity among Species and Livestock Breeds by Laura Iacolina, Astrid V. Stronen, Cino Pertoldi, Małgorzata Tokarska, Louise S. Nørgaard, Joaquin Muñoz, Anders Kjærsgaard, Aritz Ruiz-Gonzalez, Stanisław Kamiński, Deirdre C. Purfield

“…Runs of homozygosity (ROH), uninterrupted stretches of homozygous genotypes resulting from parents transmitting identical haplotypes to their offspring, have emerged as informative genome-wide estimates of autozygosity (inbreeding). …”
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Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study by Ankush Ganjewar, Ishwar B Bagoji, Sharan Badiger, Rudragouda B Bulagouda, Gurushnatappa Kadakol

“…Out of these, three were in homozygous condition and four were in heterozygous condition. …”
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A variant in GRN of Spanish origin presenting with heterogeneous phenotypes by M. Menéndez-González, A. García-Martínez, I. Fernández-Vega, A. Pitiot, V. Álvarez

“…Retinal degeneration has been found in homozygous carriers only. Ex vivo splicing assays confirmed that the mutation c.1414-1G>T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11. …”
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Non3 is an essential Drosophila gene required for proper nucleolus assembly by E. N. Andreyeva, A. A. Ogienko, A. A. Yushkova, J. V. Popova, G. A. Pavlova, E. N. Kozhevnikova, A. V. Ivankin, M. Gatti, A. V. Pindyurin

“…The strongest lethal allele (Non3∆600) is a genetically null allele that carries a large deletion of the gene and exhibits early lethality when homozygous. Flies heterozygous for Non3∆600 occasionally exhibit a mild reduction in the bristle size, but develop normally and are fertile. …”
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The Polymorphism of Voltage-Gated Sodium Channel Gene in Culex Mosquitoes in Banyuwangi District, Indonesia by Yasmin Azzahra Arifin, Hanifah Dzakiyah, Catherine Canina Charunita, Sakura Alya Ashari, Winna Putri Veliarta, Muhammad Akbar Panjinegara, Francesca Giovanetti, Carlo Montagna, Wojciech Jankowski, Muhammad Fathoni, Binarri Augustya, Lynda Rossyanti, Suhintam Pusarawati, Sukmawati Basuki

“…The wild type Culex mosquitoes were found predominant (77%, 48/62). Two types of homozygous mutations were identified as 1014F and 1014 S (16%, 10/62 and 2%, 1/62, respectively). …”
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Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in <i>MYD88</i> Gene: A Founder Effect? by Roberta Romano, Francesca Cillo, Laura Grilli, Alessio Ciaccio, Lorenzo Bufalo, Elisabetta Toriello, Antonio De Rosa, Carmen Rosano, Emilia Cirillo, Giancarlo Blasio, Marika Comegna, Carmela Di Domenico, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino

“…They underwent a comprehensive immunological work-up including targeted next-generation sequencing for IEIs that identified a homozygous pathogenic in-frame deletion c.157_159del p.…”
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Apoptosis in the liver of male <em>db/db</em> mice during the development of obesity and type 2 diabetes by S. V. Michurina, I. Yu. Ishchenko, S. A. Arkhipov, M. A. Cherepanova, D. V. Vasendin, E. L. Zavjalov

“…Proteins of the BCL-2 family are key regulators of physiological and pathological apoptosis. Homozygous males of BKS.Cg-Dock7mLeprdb/+/+/J mice (db/db mice) are characterized by progressive obesity and the development of type 2 diabetes mellitus (DM2) with severe hyperglycemia at 4–8 weeks and organ lesions at 8–10 weeks of age. …”
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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

“…AIRE full gene sequencing revealed a homozygous mutation namely 845_846insC. Renal biopsy revealed chronic interstitial nephritis with advanced fibrosis. …”
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Zinc finger proteins facilitate adaptation of a global insect pest to climate change by Tianpu Li, Jiao Guo, Guilei Hu, Fang Cao, Haiyin Su, Mengdi Shen, Huimin Wang, Minsheng You, Yuanyuan Liu, Geoff M. Gurr, Shijun You

“…We also employed CRISPR/Cas9 technology to create five stable homozygous knockout strains to elucidate ZFP functions in high-temperature tolerance. …”
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Challenges in developing a split drive targeting dsx for the genetic control of the invasive malaria vector Anopheles stephensi by Mireia Larrosa-Godall, Joshua X. D. Ang, Philip T. Leftwich, Estela Gonzalez, Lewis Shackleford, Katherine Nevard, Rob Noad, Michelle A. E. Anderson, Luke Alphey

“…The reproductive fitness of males and females heterozygous and homozygous for this element was determined. A series of experimental crosses was performed to combine the two elements and assess the homing rate of the dsx element in a split drive system. …”
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Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families by Shanshan Gao, Duo Chen, Qianqian Li, Xuechao Zhao, Chen Chen, Lina Liu, Miao Jiang, Zhenhua Zhao, Yanhua Wang, Xiangdong Kong

“…Among the families with mutations in the SMN1 gene, 645 families exhibited either E7‒E8 or E7 homozygous deletion. Some families displayed E7‒8 heterozygous deletions along with other mutations, such as E1 or E1‒6 heterozygote deletion and point mutations. …”
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Unraveling the interactive effect of opaque2 and waxy1 genes on kernel nutritional qualities and physical properties in maize (Zea mays L.) by Subhra J. Mishra, Ikkurti Gopinath, Vignesh Muthusamy, Rajkumar U. Zunjare, Gulab Chand, Arun K. T. Venkatesh, Elangbam L. Devi, Konsam Sarika, Zahirul A. Talukder, Jitender Kumar, Firoz Hossain

“…Therefore, the present study explored the combined effects of genes governing carbohydrate and protein composition on nutritional profile and kernel physical properties by crossing Quality Protein Maize (QPM) (o2o2/wx1 + wx1 + ) and waxy (o2 + o2 + /wx1wx1) parents. Selected homozygous genotypic classes from F2 populations showed that double mutants (o2o2/wx1wx1) had the highest amount of lysine (mean: 0.396%), tryptophan (mean: 0.099%), and amylopectin (mean: 98.56%) than respective single mutants (o2o2/wx1 + wx1 + : lysine: 0.338%, tryptophan: 0.083%, amylopectin: 74.66%; o2 + o2 + /wx1wx1: lysine: 0.223%, tryptophan: 0.040%, amylopectin: 95.21%). …”
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Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of <i>ACE2</i>, <i>IFI44</i>, and <i>NDUFAF4</i> in Long-Lasting Olfactory Dysfunction by Beatrice Spedicati, Alessandro Pecori, Maria Pina Concas, Aurora Santin, Romina Ruberto, Giuseppe Giovanni Nardone, Andrea D’Alessandro, Giancarlo Tirelli, Paolo Boscolo-Rizzo, Giorgia Girotto

“…An innovative approach was developed, namely the assessment of the association between a “gene score”, defined as the ratio of the number of homozygous alternative variants within the gene to its length, and participants’ olfactory function. …”
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Influence of TMPRSS6 genotype on iron status parameters in stable COPD patients by Trtica Marko, Novaković Ivana, Dopsaj Violeta, Milenković Branislava, Janković Jelena, Dimić-Janjić Sanja, Dopuđa-Pantić Vesna, Martinović Jelena, Jovičić Snežana

“…Methods: We analysed iron status parameters and genetic data from 29 COPD patients with wild-type genotype (WT group) and 65 COPD patients with either homozygous or heterozygous genotype (HH group). Additionally, the prevalence of SNP rs855791 was assessed in 192 volunteers. …”
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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 results of validation in the F2 hybrid population (VIR 340 × VIR 171) confirmed the efficiency of the G-D-1 / Bmt I marker for selecting dwarf genotypes homozygous for the Rht1 mutant allele.…”
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Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report by Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot

“…The analysis of methylmalonic pathway genes by next-generation sequencing (NGS) allowed the identification of the known homozygous nonsense variation c.139C>T (p.R47X) in exon 2 of the MCE gene. …”
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