The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants by Katayoun Heshmatzad, Nejat Mahdieh, Ali Rabbani, Abdolah Didban, Bahareh Rabbani

“…Four mutations were responsible for half of patients. 39 homozygous patients had MRAP mutations; 14 variants were determined in the MRAP gene. …”
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Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome by Alice D. Chang, Raffi Tachdjian, Kerry Gallagher, Deborah K. McCurdy, Charles Lassman, E. Richard Stiehm, Ora Yadin

“…Coagulation studies revealed homozygous methylene tetrahydrofolate reductase 677TT mutations, elevated cardiolipin IgM antibodies, and elevated β2-glycoprotein I IgM antibodies. …”
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Familial Mediterranean fever in Romania: a case report and literature review by Alin Iuhas, Alin Iuhas, Cristian Marinău, Cristian Marinău, Larisa Niulaș, Larisa Niulaș, Zsolt Futaki, Andreea Balmoș, Andreea Balmoș, Kinga Kozma, Kinga Kozma, Mirela Indrieș, Mirela Indrieș, Cristian Sava, Cristian Sava

“…Genetic testing confirmed a homozygous MEFV c.2082G>A (p.Met694Ile) variant. …”
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Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency by Funda Erol Çipe, Cigdem Aydogmus, Arzu Babayigit Hocaoglu, Merve Kilic, Gul Demet Kaya, Elif Yilmaz Gulec

“…A mutation in NBS1 gene was not found; then Cernunnos/XLF deficiency was investigated due to clinical similarities with previously reported cases. Homozygous mutation in Cernunnos/XLF gene (NHEJ1) was identified. …”
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SvSv-lines is an effective tool for involvement of the valuable genepool of 1 EBN diploid potato species into breeding by A. P. Yermishin, Yu. V. Polyukhovich, E. V. Voronkova, O. N. Gukasyan

“…It was anticipated that SvSv-lines have the same ability for elimination of prezygotic incompatibility in interspecific hybridization as S. verrucosum due to S-genes of that species in homozygous state. However, their use would help avoid undesirable effects associated with S. verrucosum application (male sterility and reduced tuber formation in hybrids). …”
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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

“…All identified variants were in homozygous state. The variant PCNT:c.3465-1G > A has previously been reported in two unrelated patients in Israeli Druze population. …”
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The zebrafish moonshine gene encodes transcriptional intermediary factor 1gamma, an essential regulator of hematopoiesis. by David G Ransom, Nathan Bahary, Knut Niss, David Traver, Caroline Burns, Nikolaus S Trede, Noelle Paffett-Lugassy, Walter J Saganic, C Anthoney Lim, Candace Hersey, Yi Zhou, Bruce A Barut, Shuo Lin, Paul D Kingsley, James Palis, Stuart H Orkin, Leonard I Zon

“…Three different mon mutant alleles each encode premature stop codons, and enforced expression of wild-type tif1gamma mRNA rescues embryonic hematopoiesis in homozygous mon mutants. Surprisingly, a high level of zygotic tif1gamma mRNA expression delineates ventral mesoderm during hematopoietic stem cell and progenitor formation prior to gata1 expression. …”
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The added role of Doppler ultrasound evaluation of sickle cell disease vasculopathy as a state of arterial stiffness and decreased nitric oxide bioavailability by Marwa Mohammed Mohammed Onsy, Sonia Ali El-Saiedi, Douaa Mohammed Mohammed Elsheshtawy, Marwa Abd-Elhady Abd-Elsamad

“…Results Mean age of patients was 13.85 ± 2.53 SD, 50% were males, 77.5% were homozygous sickle cell disease (SS). Brachial artery parameters showed that baseline diameter was significantly higher (p < 0.001) and flow mediated dilatation (FMD) was significantly lower in patients than control (p < 0.001). …”
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Arachis hypogaea monoacylglycerol lipase AhMAGL3b participates in lipid metabolism by Yihua Zhan, Jing Wang, Xuan Zhao, Zhifu Zheng, Yi Gan

“…Results Herein, AhMAGL3b encoding a protein with both hydrolase and acyltransferase regions, a member of MAGL gene family, was cloned and overexpressed in Arabidopsis thaliana. A total of 9 homozygous T3 generation transgenic lines were obtained. …”
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ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 by Mostafa Neissi, Ayoob Radhi Al-Zaalan, Misagh Mohammadi-Asl, Mojdeh Roghani, Javad Mohammadi-Asl, Kamele Jorfi

“…In this case report, we performed whole exome sequencing in an individual diagnosed with developmental and epileptic encephalopathy-38 in an Iranian family, revealing a novel homozygous mutation in the ARV1 gene (c.184C > T [p.Gln62Ter] in exon 2, NM_022786.3). …”
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Novel Human Induced Pluripotent Stem Cell-Based Model for Retinal Pigment Epithelial Cells to Reveal Possible Disease Mechanisms for Macular Degeneration in Pseudoxanthoma Elasticu... by Taina Viheriälä, Heidi Hongisto, Lyydia Saari, Marika Oksanen, Tanja Ilmarinen, Suvi Väärämäki, Hannu Uusitalo, Pasi Nevalainen, Heli Skottman

“…Two induced pluripotent stem cell (hiPSC) lines from a patient carrying the common homozygous mutation c.3421C > T, p.Arg1141X in the ATP-binding cassette transporter gene (ABCC6; OMIM264800) were established and fully characterized. …”
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Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review by Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco

“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. …”
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Pax6 regulates neuronal migration and cell proliferation via interacting with Wnt3a during cortical development by Bichao Zhang, Meihua Hou, Jiayan Huang, Yunfei Liu, Ciqing Yang, Juntang Lin

“…Abstract The paired box 6 (Pax6) gene encodes a highly conserved transcription factor, involved in the development of eyes, brain, and endocrine glands. Homozygous loss of Pax6 resulted in neonatal death in mice, plus loss of eyes and malformation of cerebral cortex. …”
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Nutritional Evaluation of Pediatric Patients with Sickle Cell Disease Treated with Hydroxyurea by Belkis Lázara Rodríguez Jorge, Lucía Morejón Díaz, Yoandra León Rayas, María Santa Cruz

“…<br /><strong>Results:</strong> 15 patients were studied, there was a predominance of females (60 %) and adolescents represented 80 % of the patients in the study. 10 patients (66.7 %) presented the homozygous form; the Sβ thalassemia and SC variant were represented with 2 and 3 patients, respectively. …”
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Haptoglobin Genotype-Dependent Anti-Inflammatory Signaling in CD163+ Macrophages by R. Clive Landis, Pandelis Philippidis, Jan Domin, Joseph J. Boyle, Dorian O. Haskard

“…It is notable that individuals homozygous for the Hp 2 allele (a poorer antioxidant) are at increased risk of cardiovascular disease compared to the Hp 1 allele. …”
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Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants by Abdullatif Bakır, Vehap Topçu, Büşranur Çavdarlı

“…Objective: Wilson’s disease (WD) is a rare autosomal recessive genetic liver disorder with hepatic, neurological, or psychiatric manifestations between 1st to 5th decades. WD is caused by homozygous or compound heterozygous pathogenic variants in the ATP7B gene. …”
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Assessment of breeding lines of rice (Oryza sativa L.) carrying the Pi-40 gene for resistance to rice blast strains from Krasnodar region by I. I. Suprun, V. S. Kovalyev, E. S. Kharchenko, E. G. Savenko

“…Plants carrying the dominant allele of the Pi-40 gene in the homozygous state were used in the study. A synthetic population of Magnaporthe oryzae consists of six strains selected at different rice-growing regions in the Krasnodar territory and Rostov region in the season with epiphytotic development of blast disease was used for phytopathological evaluation. …”
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A Case-Control Association Study of RANTES (-28C>G) Polymorphism as a Risk Factor for Parkinson’s Disease in Isparta, Turkey by Nilufer Sahin-Calapoglu, Serpil Demirci, Mustafa Calapoglu, Baris Yasar

“…The risk allele (G) in the homozygous and dominant models (OR = 17.29 and 32.10, 95% CI = 0.86–347.24 and 1.74–591.937, resp.) suggests additional PD risk. …”
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Expression evaluation of exogenous and endogenous alcohol dehydrogenase genes in transgenic Arabidopsis by Haoqiang Yu, Hong Lv, Fengzhong Lu, Qingqing Yang, Huaming Duan, Wanchen Li, Fengling Fu

“…To detect the differences in expression, protein accumulation, and enzyme activity between transformed exogenous and endogenous genes, the coding sequences (CDSs) of the alcohol dehydrogenase (ADH) genes were cloned from dicotyledonous Arabidopsis, monocotyledonous maize, and prokaryotic Escherichia coli, constructed into expression vector pBI121-cMycNY, and used to transform wild-type Arabidopsis, respectively. Three homozygous T3 lines with a single integration site were screened for each of the three transformed genes by antibiotic screening, polymerase chain reaction (PCR) identification, and genomic DNA resequencing. …”
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Contact zone of slow worms Anguis fragilis Linnaeus, 1758 and Anguis colchica (Nordmann, 1840) in Poland by Grzegorz Skórzewski, Bartosz Borczyk, Stanisław Bury, Daniel Kulik, Jan Kotusz

“…The presence of five hybrids was detected in three populations in the Polish part of the European contact zone. In all hybrids, homozygous alleles of RAG1 were detected, which suggests a back-crossing within the genus. …”
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