Androgenesis and gynogenesis in tomato (<I>Solanum lycopersicum</I> L.) <I>in vitro</I> by A. A. Shergina, A. B. Kurina

“…Obtaining doubled haploid plants makes it possible to fix and analyze new gene combinations faster than with conventional breeding techniques, and produce homozygous genotypes. Tomato is highly unsusceptible to haploid induction, which has been continuously studied for more than 40 years and is still of special interest. …”
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Biochemical Markers of Bone Turnover in Patients with β-Thalassemia Major: A Single Center Study from Southern Pakistan by Sadia Sultan, Syed Mohammed Irfan, Syed Ijlal Ahmed

“…Skeletal complications in β-homozygous thalassemic patients are uncommon but often debilitating, even amongst children and adolescent patients with well maintained transfusion and chelation therapy. …”
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Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene by Gulden Diniz, Hulya Tosun Yildirim, Sarenur Gokben, Gul Serdaroglu, Filiz Hazan, Kanay Yararbas, Ajlan Tukun

“…DNA analysis revealed a novel 7 bp homozygous deletion in exon 3 of the alpha-sarcoglycan gene. …”
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GSTP1, GSTM1 and GSTT1 genetic polymorphisms and total serum GST concentration in stable male COPD by Žuntar Irena, Petlevski Roberta, Dodig Slavica, Popović-Grle Sanja

“…The odds ratio of CC/CT+TT (wild type GSTP1 exon 6 vs. joint heterozygous and mutant homozygous GSTP1 exon 6) was 10.000 and statistically different (p = 0.002). …”
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Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases by Ibtihal Benhsaien, Fatima Ailal, Khadija Elazhary, Jalila El bakkouri, Abdallah Badou, Ahmed Aziz Bousfiha

“…The genetic study in the two cases revealed a novel mutation in the RAG2 gene, c.826G > A (p.Gly276Ser), in a homozygous state. The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.…”
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Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus by Hussein A. Saud, Paul A. O’Neill, Brian C. Ring, Tetsuhiro Kudoh

“…From an ENU-mutated mangrove killifish line R228, we have isolated a novel mutant line, no-fin-ray/nfr in which homozygous mutant of adult fish fin ray development is largely reduced. …”
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Doubled haploid production in Brassica L. by N. A. Shmykova, D. V. Shumilina, T. P. Suprunova

“…Biotechnological DH line production offers advantages to plant breeders, including the possibility to obtain homozygous lines within a year in contrast to common inbreeding methods, which may take 6–12 years. …”
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Bilateral Jugular Vein and Sigmoid Sinus Thrombosis Related to an Inherited Coagulopathy: An Unusual Presentation by Özge Altıntaş, Azize Esra Gürsoy, Gözde Baran, Elnur Mehdi, Talip Asil

“…According to the etiological workup, she had a mutation in the homozygous methylene tetrahydrofolate reductase (MTHFR) gene and reduced protein C levels and activity. …”
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An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine by Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon

“…Whole exome sequencing (WES) revealed homozygous pathogenic variants in ALDH7A1 (c.1279G > C, p.E427Q) and confirmed the diagnosis of PDE. …”
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A Giant Right Heart Thrombus-in-Transit: The Challenge of Anticoagulation in Factor V Leiden Thrombophilia by Andrew Chu, Thu Thu Aung, Minni Shreya Arumugam, Mauricio Danckers, Mohi Mitiek, Jonathan Leslie

“…We present a 51-year-old male with a past medical history of FVL homozygous mutation and recurrent blood clots, who has failed multiple different oral anticoagulants. …”
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Sickle Cell Disease Activates Peripheral Blood Mononuclear Cells to Induce Cathepsins K and V Activity in Endothelial Cells by Philip M. Keegan, Sindhuja Surapaneni, Manu O. Platt

“…ECs were stimulated with TNFα and cultured with peripheral blood mononuclear cells (PBMCs) from persons homozygous for sickle (SS) or normal (AA) hemoglobin. …”
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Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein. by June Yao, Tu Cam Le, Claudine H Kos, Joel M Henderson, Phillip G Allen, Bradley M Denker, Martin R Pollak

“…Comparison of the phenotype in wild-type, heterozygous, and homozygous Actn4 "knockin" and "knockout" mice, together with our in vitro data, suggests that the phenotypes in mice and humans involve both gain-of-function and loss-of-function mechanisms.…”
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Histological Characterization of the Dicer1 Mutant Zebrafish Retina by Saeed Akhtar, Sarita Rani Patnaik, Rakesh Kotapati Raghupathy, Turki M. Al-Mubrad, John A. Craft, Xinhua Shu

“…Zebrafish Dicer1 is expressed at the earliest stages of zebrafish development and persists into late developmental stages; it is widely expressed in adult tissues. Homozygous Dicer1 mutant fish (DICER1W1457Ter/W1457Ter) have an arrest in early growth with significantly smaller eyes and are dead at 14–18 dpf. …”
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A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report by Zahra Anvar, Farnoosh Jafarpour, Bahia Namavar Jahromi, Andrea Riccio, Mohammad Hossein Nasr‐Esfahani, Maria Vittoria Cubellis

“…Results We found a homozygous deleterious variant in the start codon of KHDC3L (c. 1A>G, p.M1V), which probably results in non‐translation or the production of a truncated protein. …”
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Polymorphism of the <i>Rca2</i> anthracnose resistance gene in strawberry cultivars (<i>Fragaria × ananassa</i>) by A. S. Lyzhin, I. V. Lukyanchuk, E. V. Zhbanova

“…‘Elianny’ and ‘Troubadour’ are presumably characterized by a dominant homozygous (Rca2Rca2) or heterozygous (Rca2rca2) genotype. …”
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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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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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