The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome by Min Xu, Yujie Shi, Li Lin, Liang Wang, Xianzhong Zhu, Jinglin Xiong, Jiawen Yin, Qing Qi, Wenlin Yang

“…Of these, 73 patients carried heterozygous variants, while 89 patients had homozygous variants. We observed that patients with variants or homozygous variants located in the 5′ half of the gene were more likely to experience failure to thrive (P < 0.05). …”
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Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss by N. A. Skryabin, S. A. Vasilyev, T. V. Nikitina, D. I. Zhigalina, R. R. Savchenko, N. P. Babushkina, M. E. Lopatkina, A. A. Kashevarova, I. N. Lebedev

“…Verification of recurrent homozygous regions was performed by Sanger sequencing. …”
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The CNDP1 (CTG)5 Polymorphism Is Associated with Biopsy-Proven Diabetic Nephropathy, Time on Hemodialysis, and Diabetes Duration by Thomas Albrecht, Shiqi Zhang, Jana D. Braun, Li Xia, Angelica Rodriquez, Jiedong Qiu, Verena Peters, Claus P. Schmitt, Jacob van den Born, Stephan J. L. Bakker, Alexander Lammert, Hannes Köppel, Peter Schnuelle, Bernhard K. Krämer, Benito A. Yard, Sibylle J. Hauske

“…We observed a significant trend towards high frequencies of the (CTG)5 homozygous genotype with increased time on dialysis. …”
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A novel CCR5 mutation common in sooty mangabeys reveals SIVsmm infection of CCR5-null natural hosts and efficient alternative coreceptor use in vivo. by Nadeene E Riddick, Emilia A Hermann, Lamorris M Loftin, Sarah T Elliott, Winston C Wey, Barbara Cervasi, Jessica Taaffe, Jessica C Engram, Bing Li, James G Else, Yingying Li, Beatrice H Hahn, Cynthia A Derdeyn, Donald L Sodora, Cristian Apetrei, Mirko Paiardini, Guido Silvestri, Ronald G Collman

“…Overall, 8% of animals were homozygous for defective CCR5 alleles and 41% were heterozygous. …”
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Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyperprolificacy phenotype in sheep. by Julie Demars, Stéphane Fabre, Julien Sarry, Raffaella Rossetti, Hélène Gilbert, Luca Persani, Gwenola Tosser-Klopp, Philippe Mulsant, Zuzanna Nowak, Wioleta Drobik, Elzbieta Martyniuk, Loys Bodin

“…Thus, we have identified two novel mutations in the BMP15 gene associated with increased LS and OR. Notably, homozygous FecX(Gr)/FecX(Gr) Grivette and homozygous FecX(O)/FecX(O) Olkuska ewes are hyperprolific in striking contrast with the sterility exhibited by all other known homozygous BMP15 mutations. …”
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Analysis of single nucleotide polymorphism of p16 gene in cytological samples of patients with oral potentially malignant disorders (OPMD) and oral squamous cell carcinoma (OSCC) by Neetu Oommen, Vasanthi V, Ramya Ramadoss, Rajkumar Krishnan

“…Buccal scrapings were taken and analyzed for exon 1, 2, 3 of p16 and homozygous deletion in exon 2 of p16 was also detected by PCR and gel electrophoresis. …”
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The Properties of Red Blood Cells from Patients Heterozygous for HbS and HbC (HbSC Genotype) by A. Hannemann, E. Weiss, D. C. Rees, S. Dalibalta, J. C. Ellory, J. S. Gibson

“…This paper reviews what is known about SCD in HbSC individuals and will compare the properties of their RBCs with those from homozygous HbSS patients. Important areas of similarity and potential differences will be emphasised.…”
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High Serum Level of IL-17 in Patients with Chronic Obstructive Pulmonary Disease and the Alpha-1 Antitrypsin PiZ Allele by Margarita Y. Pervakova, Alexandra V. Mazing, Sergey V. Lapin, Olga Y. Tkachenko, Anna I. Budkova, Elena A. Surkova, Vladimir L. Emanuel, Olga N. Titova

“…The aim of this study was to determine whether homozygous or heterozygous PiZ allele carriage leads to elevated level of IL-17 and other proinflammatory cytokines in COPD patients. …”
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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. …”
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Study of the association of polymorphisms of the folate cycle enzyme gene with the degree of cognitive and affective disorders in patients in the post-covid period by A.A. Shuprovych, O.V. Zinych, N.M. Kushnareva, O.M. Trofymenko, K.P. Komisarenko

“…According to the MTHGFR C677T genotype variant, the examined patients were divided into 3 groups: 1) 21 persons (male/female 10/11) with homozygous CC genotype; 2) 17 ones (male/female 12/5) with heterozygous CT genotype; 3) 3 persons with a recessive homozygous TT genotype (all men). …”
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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%. …”
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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). …”
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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. …”
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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.…”
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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. …”
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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. …”
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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.  …”
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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. …”
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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. …”
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Deletion of cyclin dependent kinase inhibitor 2a gene as a marker of oropharyngeal carcinomas non-associated with human papillomavirus and its prognostic value by I.S. Shponka, Bondarenko O.O. Bondarenko ч, O.V. Kovtunenko, V.V. Rakhmanov

“…Our study demonstrated that the patients with non-papillomavirus-oropharyngeal squamous cell carcinoma with cyclin dependent kinase inhibitor 2a gene homozygous deletion had the highest risk of the nodal metastases development. …”
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