Pharmacogenomic profiling of variants affecting efficacy and toxicity of anti-infective medicines in a south Asian population from Sri Lanka by Priyanga Ranasinghe, Hajanthy Jeyapragasam, Nirmala Sirisena, D. P. Bhagya Hendalage, Vajira H. W. Dissanayake

“…In the CYP2B6 gene, 109 individuals were homozygous for the rs3745274 (poor metaboliser) variant, with a MAF of 39.6% (95%CI:37.0-42.3), while the rs34097093 and rs28399499 variants had no individuals homozygous for the variant (MAF: 0.2% [95%CI:0-0.5] (poor/intermediate metaboliser), and 0.1% [95%CI:0-0.4] (poor/intermediate metaboliser), respectively). …”
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Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment by Qing Liu, Ye Sun, Baodong He, Haodong Chen, Lijing Wang, Gaojie Wang, Kang Zhang, Ximeng Zhao, Xinzhe Zhang, Dongchao Shen, Xue Zhang, Liying Cui

“…In both heterozygous and homozygous mutant mice, ANXA11 protein levels were comparable to those in wild-type. …”
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Pharmacokinetic Analysis of an Isoniazid Suspension Among Spanish Children Under 6 Years of Age by Antoni Noguera-Julian, Emma Wilhelmi, Maria Cussó, Rob Aarnoutse, Angela Colbers, Loreto Martorell, Maria Goretti López-Ramos, Joan Vinent, Rosa Farré, Dolors Soy, Sílvia Simó-Nebot, Clàudia Fortuny

“…The acetylator statuses were homozygous fast (<i>n</i> = 3), heterozygous intermediate (<i>n</i> = 18), and homozygous slow (<i>n</i> = 2; unavailable in one patient). …”
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Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis by Moriah Forster, Timothy Moran, Anne Beaven, Timothy Voorhees

“…On further workup, the patient was ultimately found to have a homozygous intrionic mutation in ZAP-70. This is a novel ZAP-70 mutation (c.1623 + 5G > A) associated with combined immunodeficiency and an EBV-positive LPD. …”
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Acute Sickle Hepatic Crisis after Liver Transplantation in a Patient with Hb SC Disease by J. H. Gillis, S. K. Satapathy, L. Parsa, P. B. Sylvestre, N. Dbouk

“…It occurs predominantly in patients with homozygous (Hb SS) sickle cell anemia and to a lesser degree in patients with Hb SC disease, sickle cell trait, and Hb S beta thalassemia. …”
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Principal component analysis (PCA) as a genetic diversity tool to understand the variation of rice mutant culture by S. Palaniyappan1, P. Arunachalam1*, S. Banumathy1 and S. Muthuramu2

“…The current research experiment was carried out to analyze the genetic variations among rice mutants and homozygous lines from cross derivatives by principal component analysis (PCA). …”
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An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission by Gulcin Aytac, Burcu Guven, Ilyas Aydin, Ezgi Topyildiz, Ayca Aykut, Asude Durmaz, Neslihan Edeer Karaca, Guzide Aksu, Necil Kutukculer

“…The parents were consanguineous, and targeted next-generation sequencing was performed. A homozygous mutation in the AIRE gene SAND domain (c.769C > T, p.Arg257Ter) was detected, and the patient was diagnosed with APECED syndrome. …”
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GENETIC CONTROL OF ANTHOCYANIN COLORATION IN RYE by A. V. Voylokov, A. N. Lykholay, V. G. Smirnov

“…Six recessive genes vi1–vi6 were identified, whose homozygous state led to the absence of anthocyanin from the whole plant. …”
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Nicotine Has a Therapeutic Window of Effectiveness in a Drosophila melanogaster Model of Parkinson’s Disease by Brady T. Mannett, Braden C. Capt, Krista Pearman, Lori M. Buhlman, John M. VandenBrooks, Gerald B. Call

“…We show that continuous early nicotine administration improves both climbing and flight deficiencies present in homozygous park25 mutant PD model Drosophila melanogaster. …”
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Widespread anticoagulant resistance in house mice (Mus musculus musculus) linked to the Tyr139Phe mutation in the Czech Republic by Marcela Frankova, Zuzana Starostova, Radek Aulicky, Vaclav Stejskal

“…The functional (mortality–survival) response of the Tyr139Phe mutation was validated in a laboratory choice feeding test using bromadiolone-based bait, where all resistant homozygous individuals survived, while all susceptible mice died, with a mean survival of 6.9 days.…”
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Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report by Şule Çalışkan Kamış, Begül Yağcı

“…A 7-year-old male patient with a diagnosis of congenital IV had a biopsy performed at an external center due to multiple lymphadenopathies, which revealed T-cell lymphoblastic lymphoma. A homozygous variant in the DSG1 gene was detected through whole-exome sequencing. …”
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A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families by Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

“…In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. …”
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A Girl with Autoimmune Cytopenias, Nonmalignant Lymphadenopathy, and Recurrent Infections by Marjolein A. C. Mattheij, Ellen J. H. Schatorjé, Eugenie F. A. Gemen, Lisette van de Corput, Peet T. G. A. Nooijen, Mirjam van der Burg, Esther de Vries

“…The CVID-associated TACI gene showed a homozygous polymorphism (Pro251Leu), which is found also in healthy controls.…”
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PTEN Gene: A Model for Genetic Diseases in Dermatology by Corrado Romano, Carmelo Schepis

“…A recent model sees PTEN function as a stepwise gradation, which can be impaired not only by heterozygous mutations and homozygous losses, but also by other molecular mechanisms, such as transcriptional regression, epigenetic silencing, regulation by microRNAs, posttranslational modification, and aberrant localization. …”
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Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation by Harshini Surendran, Rajani Battu, Renjitha Gopurappilly, Chethala N. Vishnuprasad, Rajarshi Pal

“…The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in >75 % people affected with a homozygous mutation. Here, we describe the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) isolated from a AATD patient using non viral and non-integrating episomal vectors. …”
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On the issue of producing doubled haploids of table beet (<i>Beta vulgaris</i> L. var. <i>conditiva</i> Alef.) (a review) by A. M. Zaretsky, A. B. Kurina, D. V. Sokolova

“…In vitro production of doubled table beet haploids makes it possible to obtain homozygous material in a short time. It can be used in breeding programs as an alternative to traditional inbred lines. …”
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The genetic control of the day- neutral habit in populations of Fragaria vesca (Rosaceae) in Western Siberia by S. O. Baturin

“…Genetic analysis of reflowering Fragaria vesca plants growing in natural conditions showed that they were usually homozygous for the dominant allele of seasonal fruiting. …”
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Warfarin Dosing in a Patient with CYP2C9*3*3 and VKORC1-1639 AA Genotypes by Mark Johnson, Craig Richard, Renee Bogdan, Robert Kidd

“…Genetic analysis later revealed that she had the homozygous variant genotypes of CYP2C9*3*3 and VKORC1-1639 AA. …”
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Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation by Ameer Kakaje, Ammar Fadel, Osama Hosam Aldeen, Othman Hamdan

“…Genetic testing for the homozygous MTHFR (C677T) mutation was later confirmed, and warfarin was indicated. …”
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Current Insights into Various In Vitro Dihaploidization Techniques Used in <i>Brassica</i> Oil Crops by Pavla Bryxová, Eloy Fernández-Cusimamani, Miroslav Klíma

“…Such DH techniques can play a significant role in plant breeding by accelerating the production of homozygous lines and increasing selection efficiency. …”
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