Functional Analysis of DNMT1 SNPs (rs2228611 and rs2114724) Associated with Schizophrenia by Sonal Saxena, Pranay Amruth Maroju, Sumana Choudhury, Vidhya Chitta Voina, Poonam Naik, Kavitha Gowdhaman, Poornima Kkani, Kiranmai Chennoju, S. Ganesh Kumar, C. Ramasubramanian, G. Prasad Rao, Trinath Jamma, Kumar Pranav Narayan, K. Naga Mohan

“…To gain insights into the functional effects of the two SNPs on the levels of DNMT1 transcripts, quantitative real-time PCR experiments were performed using peripheral blood monocytes from 10 individuals each with T/T–T/T (homozygous minor allele), C/T–C/T (heterozygous), and C/C–C/C (homozygous major allele) haplotypes. …”
Get full text

Characteristics and Risk Factors of Helicobacter pylori Associated Gastritis: A Prospective Cross-Sectional Study in Northeast Thailand by Taweesak Tongtawee, Soraya Kaewpitoon, Natthawut Kaewpitoon, Chavaboon Dechsukhum, Wilairat Leeanansaksiri, Ryan A. Loyd, Likit Matrakool, Sukij Panpimanmas

“…The genetic polymorphisms of Mdm2 SNIP309 were SNIP309 T/T homozygous in 78%, SNIP309 G/T heterozygous in 19%, and SNIP309 G/G homozygous in 3%. …”
Get full text

Analysis of polymorphism at the <i>FaRca1</i> locus to identify strawberry genotypes resistant to <i>Colletotrichum acutatum</i> by A. S. Lyzhinir, I. V. Luk’yanchuk

“…In the studied strawberry cultivars, the FaRca1 resistance locus was represented by two allelic combinations: homozygous susceptible genotype (AA) and heterozygous resistant genotype (AB). …”
Get full text

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations by Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad

“…The second was a homozygous pathogenic variant (c.836 C > T, p.A279 V) in the SUMF1 gene responsible for multiple sulfatase deficiency. …”
Get full text

Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family by Y. N. Khan, M. Imad A.M. Mahmud, N. Othman, H. M. Radzuan, S. Basit

“…This finding supports the evidence that homozygous mutations in the SH3PXD2B gene are the main cause in the development of FTHS.…”
Get full text

Prevalence of the polymorphic H-ficolin (FCN3) genes and mannosebinding lectin-associated serine protease-2 (MASP2) in indigenous populations from the Russian Arctic regions by M. V. Smolnikova, S. Yu. Tereshchenko

“…Analysis of the prevalence of the MASP2 genotypes has shown the predominance of the homozygous variant AA in all studied populations, which agrees with the available world data. …”
Get full text

Morphophysiological alterations caused by insertional mutagenesis of contactin 5 (Cntn5) gene in transgenic mice by A. V. Smirnov, N. A. Feofanova, G. V. Kontsevaya, M. V. Anisimova, I. I. Kovrigin, I. A. Serova, M. P. Moshkin, L. A. Gerlinskaya, N. R. Battulin

“…Our results uncovered that homozygous mutant mice have lower body weight than controls and that it is caused by slower accumulation of fat tissue. …”
Get full text

Decreasing of heterogeneity in black tiger prawn (Penaeus monodon) and white shrimp (Litopenaeus vannamei) broodstocks and their fry produced in hatchery by Bambang Widyo Prastowo, Rahayu Rahardianti, Evi Maftuti Nur

“…Homozygous has been found in F1 of white shrimp broodstock from Florida.  …”
Get full text

Impact of type 2 diabetes variants identified through genome-wide association studies in early-onset type 2 diabetes from South Indian population by Samuel Liju, Manickam Chidambaram, Viswanathan Mohan, Venkatesan Radha

“…For the HHEX variant rs1111875 (T/C), heterozygous and homozygous carriers for allele ‘C’ have odds ratios of 1.13 (95% CI, 0.91 to 1.42; p = 0.27) and 1.58 (95% CI, 1.17 to 2.12; p = 0.003) respectively, relative to the TT homozygote. …”
Get full text

Pregnancy Outcomes among Patients with Sickle Cell Disease in Brazzaville by F. O. Galiba Atipo Tsiba, C. Itoua, C. Ehourossika, N. Y. Ngakegni, G. Buambo, N. S. B. Potokoue Mpia, A. Elira Dokekias

“…It combines, in its homozygous form, chronic hemolytic anemia, vasoocclusive complications, and susceptibility to infections. …”
Get full text

Polymorphism of the <i> FaOMT </i> and <i> FaFADl </i> genes for fruit flavor volatiles in strawberry varieties and wild species from the genetic collection of the Michurin Federal... by A. S. Lyzhin, I. V. Luk’yanchuk, E. V. Zhbanova

“…The functional allele of the FaOMT gene in the homozygous state (FaOMT+FaOMT+ genotype) was detected in 51.2 % of the accessions. …”
Get full text

Pontocerebellar hypoplasia: clinical case and literature review by L. Anužis, E. Buivydas, D. Petrova, M. Šukys, R. Gleiznienė

“…To confirm the diagnosis of PCH2A, genetic analysis is required detecting homozygous missense mutation in the TSEN54 gene. In this article we present a clinical case of a neonate whose diagnosis of PCH2A was suspected by clinical symptoms and MRI features and later confirmed by identifying homozygous missense mutation in the TSEN54 gene. …”
Get full text

Whole-Genome Sequencing Revealed a Late-Maturing Isogenic Rice Koshihikari Integrated with Hd16 Gene Derived from an Ise Shrine Mutant by Motonori Tomita, Ryotaro Tokuyama, Shosuke Matsumoto, Kazuo Ishii

“…Next, the linkage relationship of a single late-maturing gene with the SSR markers on the long arm of chromosome 3 was inferred by using late-maturing homozygous F2 segregants. Moreover, genetic analyses of late maturity were conducted through the process of six times of continuous backcross with Koshihikari as a recurrent parent by using the late-maturing homozygous F3 line as a nonrecurrent parent, thus developing a late-maturing isogenic Koshihikari (BC6F2). …”
Get full text

De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura by Ibrahim Alharbi, Sarah Alqarni, Wed Khayyat, Amirah Almatrafi

“…Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive disease characterized by ADAMTS13 deficiency or a severe decrease in its activity that is caused by homozygous or combined heterozygous mutations in its encoding gene. …”
Get full text

Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

“…Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. …”
Get full text

Genotype Distribution of CNDP1 Polymorphisms in the Healthy Chinese Han Population: Association with HbA1c and Fasting Blood Glucose by Shiqi Zhang, Juan Xu, Di Cui, Shujuan Jiang, Xin Xu, Yi Zhang, Dongchun Zhu, Li Xia, Benito Yard, Yonggui Wu, Qiu Zhang

“…Only 0.5% of individuals carried the homozygous (CTG)5 genotype and individuals carrying the homozygous (CTG)4 genotype were not found. …”
Get full text

The Impact of Osteopontin Gene Variations on Multiple Sclerosis Development and Progression by Cristoforo Comi, Giuseppe Cappellano, Annalisa Chiocchetti, Elisabetta Orilieri, Sara Buttini, Laura Ghezzi, Daniela Galimberti, Franca Guerini, Nadia Barizzone, Franco Perla, Maurizio Leone, Sandra D’Alfonso, Domenico Caputo, Elio Scarpini, Roberto Cantello, Umberto Dianzani

“…We found that only +1239A>C SNP displayed a statistically significant association with MS development, but both +1239A>C and -156G>GG had an influence on MS progression, since patients homozygous for both +1239A and −156GG alleles displayed slower progression of disability and slower switch to secondary progression than those carrying +1239C and/or −156G and those homozygous for +1239A only. …”
Get full text

Human SLC26A1 Gene Variants: A Pilot Study by Paul A. Dawson, Pearl Sim, David W. Mudge, David Cowley

“…DNA sequence analyses showed missense mutations in seven patients: one individual was heterozygous R372H; 4 individuals were heterozygous Q556R; one patient was homozygous Q556R; and one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T. …”
Get full text

Inheritance of protein markers in the succession of generations of interspecific hybrids of cotton by Sh. Yunuskhanov, Z. Abdurazakova

“…Plants in which this protein was absent belonged to the homozygous phenotypic class with marker H-0.13.…”
Get full text

Polymorphisms of Leptin (-2548 G/A) and Leptin Receptor (Q223R) Genes in Iranian Women with Breast Cancer by Reza Mahmoudi, Bahareh Noori Alavicheh, Mohammad Amin Nazer Mozaffari, Mohammad Fararouei, Mohsen Nikseresht

“…For -2548 G/A polymorphism, the genotypes were homozygous AA (OR = 1.13; p=0.8) and heterozygous GA (OR = 0.41; p=0.2) and for Q223R polymorphism, the genotypes were homozygous RR (OR = 6.7; p=0.09) and heterozygous QR (OR = 8.3; p=0.06). …”
Get full text