Genetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan by Urwah Rasheed, Minahil Khalid, Aneeqa Noor, Umar Saeed, Rizwan Uppal, Saima Zafar

“…It is noteworthy that the MM homozygous genotype was present in 71 samples, VV genotype was present in 29. …”
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CSE-8, a filamentous fungus-specific Shr3-like chaperone, facilitates endoplasmic reticulum exit of chitin synthase CHS-3 (class I) in Neurospora crassa by Samantha Verónica González-Téllez, Meritxell Riquelme

“…Additionally, sexual development was disrupted in the Δcse-8 strain, with 20% of perithecia from homozygous crosses exhibiting two ostioles. A Δcse-7;Δcse-8 double mutant strain showed reduced N-acetylglucosamine (GlcNAc) content and decreased radial growth. …”
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Comparative gametogenesis and genomic signatures associated with pollen sterility in the seedless mutant of grapevine by Siddhi Chavan, Satish Phalake, Sujata Tetali, Vitthal T. Barvkar, Ravindra Patil

“…Genome sequence data was also used to identify induced mutations in the seedless mutant, which revealed three homozygous and 25 heterozygous InDels in the genes related to male gametophyte development. …”
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IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta. by Marjo K Hytönen, Julius Rönkkö, Sruthi Hundi, Tarja S Jokinen, Emilia Suonto, Eeva Teräväinen, Jonas Donner, Rita La Rovere, Geert Bultynck, Emil Ylikallio, Henna Tyynismaa, Hannes Lohi

“…Here, we report the identification of a homozygous nonsense variant in the ITPR3 gene in Lancashire Heeler dogs, presenting with a severe developmental enamel defect and reduced nerve conduction velocity. …”
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Distribution of the arctic variant of the CPT1A gene in indigenous populations of Siberia by B. A. Malyarchuk, M. V. Derenko, G. A. Denisova, A. N. Litvinov

“…It is also known that the homozygous Arctic variant is associated with hypoketotic hypoglycemia attributable to CPT1A deficiency and high infant mortality and occurs at high frequency in American Eskimo. …”
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Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta by Veronica Ortega, Christina Mendiola, Eric Williamson, Kenneth Higby, Gopalrao V. N. Velagaleti

“…Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(9). Parental chromosome analysis showed both parents to be carriers of inv(9) and the parents are not consanguineous. …”
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The Association of Adipokines and Myokines in the Blood of Obese Children and Adolescents with Lipoprotein Lipase rs328 Gene Variants by Alexander V. Shestopalov, Vadim V. Davydov, Genrik T. Tumanyan, Elena D. Teplyakova, Tatiana P. Shkurat, Elena V. Mashkina, Mikhail A. Shkurat, Andrey M. Gaponov, Anastasia A. Sadova, Olga V. Borisenko, Sergey A. Roumiantsev

“…The shifts in hormones, adipokines, and myokines manifest mostly in the obese individuals with Ser447Ser genotype rather than with 447Ter genotype. Obese boys homozygous for Ser447Ser have more elevated leptin levels than girls. …”
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A transgenic mouse line with a 58 kb fragment deletion shows skeletal defects by Ahmed Alamoudi, Dina Husein, Yoshio Ohyama, Angela Chen, Hanna Mochida, Yoshiyuki Mochida

“…The aim of this study was to characterize the skeletal phenotype of the homozygous 58 kb deletion mouse (58 kb-/-). Our results showed that body size and bone length of the 58 kb-/- mice were smaller than those of wild-type (WT) mice. …”
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Association of CYP2C9∗3 and CYP2C8∗3 Non-Functional Alleles with Ibuprofen-Induced Upper Gastrointestinal Toxicity in a Saudi Patient by Amina M. Bagher

“…This is the first reported Saudi patient homozygous for CYP2C9∗3 and CYP2C8∗3 variant alleles, which led to ibuprofen-induced upper GI toxicity. …”
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Using achievements of fruit crop genetics and breeding: a contribution from the Michurinsk Department of the Vavilov Society of Geneticists and Breeders by N. I. Savel’ev, N. N. Savel’eva

“…On the basis of molecular-genetic analysis of apple initial forms and hybrid seedlings, there were identified targeted alleles of monogenic scab resistance genes including dominant homozygous genotype (Rvi6Rvi6) and also alleles of genes involved in the control of the biosynthesis of ethylene (Md-ACS1 and Md-ACO1) and expansin (Md-Exp7) controlling fruit long shelf life and pulp firmness.…”
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Differential Expression of Placental Glucocorticoid Receptors and Growth Arrest-Specific Transcript 5 in Term and Preterm Pregnancies: Evidence for Involvement of Maternal Stress by D. Mparmpakas, E. Zachariades, G. Sotiriadis, A. Goumenou, A. J. Harvey, Y. Gidron, E. Karteris

“…In an attempt to assess a stress versus gene interaction, we studied four GR polymorphisms. In the homozygous group for Tth111I polymorphism, mothers with negative attitudes towards the pregnancy gave birth to infants with significantly lower birth weights compared to women with positive/neutral attitudes. …”
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Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review by Le Jiang, Dongmei Li, Qiansha Guo, Yunfeng Li, Lei Zan, Rihan Ao

“…A literature review showed that no homozygous mutations have been reported to date. After 5 years of treatment and follow-up, we found that this genotype requires high levels of potassium and is prone to urinary protein and metabolic syndrome. …”
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Prevalence of GCKR rs1260326 Variant in Subjects with Obesity Associated NAFLD and T2DM: A Case-Control Study in South Punjab, Pakistan by Tayyaba Nisar, Kashan Arshad, Zahid Abbas, Maira Ali Khan, Sohail Safdar, Rehan Sadiq Shaikh, Ali Saeed

“…The frequency of the C allele was 0.66, 0.67, and 0.74 in NAFLD normal weight, overweight, and obese subjects, respectively, while the frequency of the C allele was 0.60, 0.60, and 0.74 in T2DM in normal weight, overweight, and obese subjects, respectively. Homozygous mutant (CC) was 53% in both NAFLD and T2DM subjects, while heterozygous mutant (CT) was 15.53% in NAFLD and 22% in T2DM subjects. …”
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Collapsing glomerulopathy associated with parvovirus B19 and systemic lupus erythematosus in a patient with APOL1 high-risk variant for nephropathy by Thaíza Passaglia Bernardes, Thalita Alvarenga Ferradosa Paula, Gabriel Teixeira Montezuma Sales, Patrícia Varela Calais, Renato Demarchi Foresto, Luiz Antonio Moura, Marcelino de Souza Durão Junior, João Bosco Pesquero, Gianna Mastroianni Kirsztajn

“…In this case, the patient with SLE presented CG possibly caused by parvovirus B19 infection associated with homozygous apolipoprotein 1 (APOL1) G1 genotype, which has been described as a determinant risk factor for this glomerulopathy. …”
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RETRACTED ARTICLE: Association between cytochrome P450 1A1 (CYP1A1) gene polymorphisms and the risk of renal cell carcinoma: a meta-analysis by Fan-dong Meng, Ping Ma, Cheng-guang Sui, Xin Tian, You-hong Jiang

“…The meta-analysis indicated that the MspI polymorphism was associated with an increased RCC risk (allele model: OR = 1.49, 95%CI 1.03–2.16; homozygous model: OR = 1.64, 95%CI 1.13–2.40; dominant model: OR = 1.72, 95%CI 1.07–2.76). …”
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Cystatin C Secretion in Blood Derivatives and Cellular Models of Idiopathic Parkinson’s Disease by Kathleen Mommaerts, Anna S. Monzel, Alise Zagare, Sarah L. Nickels, Nico J. Diederich, Laura Longhino, William Mathieson, Paul M. A. Antony, Fay Betsou, Jens C. Schwamborn

“…Genotyping analyses confirmed that all subjects were homozygous AA. The identity of the derived models was confirmed using immunohistochemical staining. …”
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Loss of BRCA1 Spontaneously Induces the Tumorigenesis in Lacrimal Gland by Sun Eui Kim, Hye Jung Baek, Eun Jung Park, Sung Chul Lim, Sang Soo Kim

“…We have previously shown that spontaneous tumors form frequently in mice homozygous for a full-length Brca1 deletion. In general, mutations of BRCA1 are closely associated with induction of breast and ovarian cancers but are also known to contribute to the incidence of other cancers at a low frequency. …”
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A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases by Reema Iskafi MD, Bahaa AbuRahmeh MD, Roa’a Aljuneidi MD, Hidaya AlShweiki MD, Siraj Abdelnabi MD, Anas Abukhalaf MBBS, Bara’ Maraqa PBoS

“…This constellation of manifestations raised suspicion of a genetic disorder, prompting whole exome sequencing (WES), which revealed the presence of a homozygous likely pathogenic variant in the MAN1B1 gene (c.1976T>G)(p.Phe659Cys). …”
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Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing by Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W. Scherer, Chaim M. Roifman

“…In this study, we describe the role of whole genome sequencing (WGS) in providing a definitive diagnosis for a child with T cell deficiency, where targeted panel sequencing of SCID genes and whole exome sequencing had failed. A novel homozygous 8kb deletion in PTCRA, encoding pTCRα, was identified. …”
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The role of VNTR aggrecan gene polymorphism in the development of osteoarthritis in women by D. A. Shapovalova, A. V. Tyurin, S. S. Litvinov, E. K. Khusnutdinova, R. I. Khusainova

“…A significance of allele *27 (х2 = 6.297, p = 0.012, odds ratio (OR) = 1.50; 95 % confidence interval (CI) 1.09-2.05) in the development of OA in general, knee OA (х2 = 4.613, p = 0.031, OR = 1.52; 95 % CI 1.04-2.23), and multiple OA (х2 = 4.181, p = 0.04, OR = 1.68; 95 % CI 1.02-2.78) was revealed. Homozygous genotype *27*27 was associated with OA (х2 = 3.921, р = 0.047, OR = 1.72; 95 % CI 1-2.96), and OA with uCTD signs in women (х2 = 5.415, p = 0.019, OR = 2.34; 95 % CI 1.13-4.83).…”
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