Association of Methylenetetrahydrofolate Reductase C677T Gene Polymorphisms with Mild Cognitive Impairment Susceptibility: A Systematic Review and Meta-Analysis by Jiahui Sun, Xuefan Jiang, Ming Zhao, Lina Ma, Hui Pei, Nanyang Liu, Hao Li

“…There was no significant association between MTHFR C677T (rs1801133) gene variants and MCI susceptibility under the allelic (OR, 1.318; 95% CI, 0.964–1.801; p=0.084), dominant (OR, 1.296; 95% CI, 0.925–1.817; p=0.132), recessive (OR, 1.397; 95% CI, 0.845–2.312; p=0.193), heterozygous (OR, 1.031; 95% CI, 0.855–1.243; p=0.749), or homozygous (OR, 1.506; 95% CI, 0.850–2.667; p=0.160) models. …”
Get full text

VDR Polymorphisms in Autoimmune Connective Tissue Diseases: Focus on Italian Population by Andrea Latini, Giada De Benedittis, Carlo Perricone, Serena Colafrancesco, Paola Conigliaro, Fulvia Ceccarelli, Maria Sole Chimenti, Lucia Novelli, Roberta Priori, Fabrizio Conti, Cinzia Ciccacci, Paola Borgiani

“…For rs7975232 SNP, we observed a significant association of the variant homozygous genotype with SLE (P=0.009, OR=1.82), pSS (P=0.046, OR=1.66), and RA (P=0.028, OR=1.75) susceptibility. …”
Get full text

Genetic Signatures: CD44 Single-Nucleotide Polymorphisms Affect Cell Surface Expression and Elevate Risk in Head and Neck Squamous Cell Carcinoma by Muhammad Kashif, Shah Jahan, Sadia Minhas, Ali Amar, Romeeza Tahir, Haseeb Nisar, Faheem Shehzad, Abdul Hanan Nagi, Nadeem Afzal

“…Other notable findings included significant associations between CD44 rs13347 genotype and age (P = .031), number of CD44-positive tumor cells (P = .049), CD44 staining intensity (SI; P = .039), and CD44 immunoreactivity score (IRS) status (P = .019).CONCLUSIONThe T allele and homozygous TT genotype of CD44 rs13347 SNP were associated with increased susceptibility to HNSCC and decreased proportion of CD44-positive tumor cells, low SI, and reduced IRS.…”
Get full text

Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency by Nanis S. Marzuki, Firman P. Idris, Hannie D. Kartapradja, Alida R. Harahap, Jose R. L. Batubara

“…Although we were unable to identify clear correlations between genotypic and phenotypic characteristics in this study, we clearly showed that individuals who were homozygous or compound heterozygous for any of the harmful mutations were more likely to exhibit classic 5ARD2 phenotypes, lower EMS, female assignment at birth, and virilisation during puberty. …”
Get full text

Insights into the Correlation between Toll-Like Receptor 2 Polymorphism and HBV-Related Disease Progression and Occurrence of Hepatocellular Carcinoma: A Case-Control Study in Egyp... by Naglaa S. Elabd, Marwa L. Helal, Mohsen Elkhayat, Heba Kamal Abd-ElKhalek, Doaa M. Ahmed, Asmaa M. El-Shemy, Yara S. Elsaadawy, Rasha A. Abdelmoneum, Hind S. AboShabaan, Randa M. Seddik

“…IL-6 values were significantly higher in the HCC group, followed by the cirrhotic group, than those in chronic hepatitis and control groups (p<0.001), with a significant correlation with disease activity and progression parameters. TRL2 homozygous TT was the most frequent in the control group, but the CC genotype was significantly more prevalent in the HCC group than that in the other groups. …”
Get full text

Adverse Events of the BCG (Bacillus Calmette–Guérin) and Rotavirus Vaccines in a Young Infant with Inborn Error of Immunity by Suleiman Al-Hammadi, Najla S. Alkuwaiti, Ghassan A. Ghatasheh, Huda Al Dhanhani, Hiba M. Shendi, Abdulghani S. Elomami, Farida Almarzooqi, Abdul-Kader Souid

“…This young infant was diagnosed at six months of age with “immunodeficiency type 19” (MIM#615617) due to homozygous nonsense variant, NM_000732.4 (CD3D):c.128G > A, p.Trp43∗ (variation ClinVar#VCV000643120.1; pathogenic). …”
Get full text

Development and investigation of common wheat lines of winter cultivar Bezostaya 1 with combinations of dominant alleles of VRN-1 loci by E. V. Chumanova, T. T. Efremova, Y. V. Kruchinina, L. A. Pershina

“…Most varieties presently grown in Russia carry the dominant alleles of two VRN-1 genes: Vrn-A1a and Vrn-B1a or Vrn-B1c; thus, the task was to create lines combining the dominant alleles of Vrn-A1a with Vrn-B1a and Vrn-B1c against the genetic background of the winter variety Bezostaya 1 (Bez1 Vrn-A1a/Vrn-B1a and Bez1 Vrn-A1a/Vrn-B1c). Homozygous plants were isolated in the F2 generation by using known allele­specifc primers for the Vrn-A1 and Vrn-B1 loci. …”
Get full text

Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report by Joana Rita Chora, Helena Simões-Teixeira, Tiago Daniel Matos, Jorge Humberto Martins, Marisa Alves, Raquel Ferreira, Luís Silva, Carlos Ribeiro, Graça Fialho, Helena Caria

“…The twin girl and the father were homozygous for the c.35delG mutation in the GJB2 gene, while the twin boy and the mother were compound heterozygotes, both monoallelic for c.35delG and for the deletion del(GJB6-D13S1830) in the GJB6 gene. …”
Get full text

Study of wheat (<i>Triticum aestivum</i> L.) breeding material potential for (<i>Triticum aestivum</i> L.)androgenesis by N. V. Petrash, T. N. Kapko, V. V. Sovetov

“…Doubled haploid technology is a valuable biotechnological approach in plant breeding that enables one to quickly create new varieties through the single-stage production of homozygous lines. The aim of this study was to assess the indicators of in vitro androgenesis in the anther culture of the initial breeding material of varieties and combinations of F1 and F2 and to identify promising accessions with good responsiveness. …”
Get full text

Altered Mitochondrial Respiration and Other Features of Mitochondrial Function in Parkin-Mutant Fibroblasts from Parkinson’s Disease Patients by William Haylett, Chrisna Swart, Francois van der Westhuizen, Hayley van Dyk, Lize van der Merwe, Celia van der Merwe, Ben Loos, Jonathan Carr, Craig Kinnear, Soraya Bardien

“…To this end, dermal fibroblasts were obtained from three PD patients with homozygous whole exon deletions in parkin and three unaffected controls. …”
Get full text

Body composition changes and clinical outcomes in pediatric cystic fibrosis during 24 months of lumacaftor ivacaftor therapy based on real-world data by Marcell Imrei, Adrienn F. Kéri, Éva Gács, Ildikó Gönczi, Melinda Meláth, Éva Kosaras, Botond Demeter, Csaba Péterfia, Klára Vass, Gyöngyi Székely, Klementina Ocskay, Andrea Párniczky

“…This observational study included pwCF homozygous for F508del mutation treated between 2021 and 2023. …”
Get full text

Single Nucleotide Polymorphisms, Associated with Increased Risk of Irritable Bowel Syndrome with Predominant Constipation: A Meta Analysis by E. A. Trush, A. E. Karchevskaya, R. V. Maslennikov, E. A. Poluektova, O. S. Shifrin, V. T. Ivashkin

“…Our meta-analysis revealed that ADRA2A 1291C&gt;G polymorphism was significantly associated with both IBS and IBS-C in the mixed population. Neither homozygous nor heterozygous variants of the SLC6A4 (5-HTTLPR) polymorphism and GNB3 C825T polymorphism were associated with either IBS-C or IBS as a whole.…”
Get full text

Association of a Common Variant at 10q26 and Benign Prostatic Hyperplasia Aggressiveness in Han Chinese Descent by Xin Gu, Tao Huang, Ding Xu, Liujian Duan, Yang Jiao, Jian Kang, S. Lilly Zheng, Jianfeng Xu, Jielin Sun, Jun Qi

“…Patients with the genotype “A/A” (homozygous minor allele) had an increase of IPSS and TPV after treatment (P=0.045 and 0.024, resp.). …”
Get full text

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria by Hewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, Neluwa Liyanage Ruwan Indika, Matara Mahavidanage Nishani De Silva, Imalke Kankananarachchi, Pushpa Malkanthi Gardiye Punchihewa, Dharma Irugalbandara, Sabine Schroeder, Kosala Karunaratne, Eresha Jasinge

“…Thirteen patients with homozygous genotypes were non‐responsive to pyridoxine while the only patient with the compound heterozygous genotype (c.869C>T/c.772G>A) responded to pyridoxine treatment. …”
Get full text

TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation by Liubov O. Skorodumova, Ekaterina N. Grafskaia, Daria D. Kharlampieva, Dmitry I. Maltsev, Tatiana V. Petrova, Alexandra V. Kanygina, Elena V. Fedoseeva, Pavel V. Makarov, Boris E. Malyugin

“…Genetic analysis revealed a homozygous deletion, NM_002353.3:c.653del, in the TACSTD2 gene. …”
Get full text

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

“…Genetic testing confirmed a homozygous pathogenic variant in SLC37A4 and a heterozygous variant of uncertain significance in TBX1. …”
Get full text

Pharmacogenetics: Influence of CYP2C9*2 and *3 alleles polymorphisms on Iraqi type 2 diabetic patients by Ghada S. Rasool, Asmaa A. Hussien, Suhad R. Al-Tayie, Salwa J. Al-Awadi, Hussein OM Al-Dahmoshi

“…The results exposed that 75 patients carried the wild (CYP2C9*1/*1) genotype, 25 were heterozygote allele (CYP2C9*1/*2) for CYP2C9*2 gene, 4 were homozygous for the variant CYP2C9*2 allele (CYP2C9*2/*2), and 9 were heterozygous for the variant CYP2C9*3 allele (CYP2C9*1/*3). …”
Get full text

Effect of Chronic Valproic Acid Treatment on Hepatic Gene Expression Profile in Wfs1 Knockout Mouse by Marite Punapart, Mall Eltermaa, Julia Oflijan, Silva Sütt, Anne Must, Sulev Kõks, Leonard C. Schalkwyk, Catherine Fernandes, Eero Vasar, Ursel Soomets, Anton Terasmaa

“…Wild type, Wfs1 heterozygous, and homozygous mice were treated with VPA for three months (300 mg/kg i.p. daily) and gene expression profiles in liver were evaluated using Affymetrix Mouse GeneChip 1.0 ST array. …”
Get full text

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. …”
Get full text

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. …”
Get full text