An Obstetrics Index for the Assessment of Risk Levels of “High Risk Pregnancy” Groups by M. Sinan Beksaç, Emine Aydın, Mert Tuğral, Ergün Karaağaoğlu

“…STUDY DESIGN: This study is consisted of 3 groups of patients; 1) Pregnancies without MTHFR polymorphisms (n=65), 2) Pregnancies with methylenetetrahydrofolate reductase (MTHFR; homozygous or compound heterozygous) polymorphisms (n=140), 3) Pregnancies with “autoimmune antibody positivity” without any other type of hereditary thrombophilia (Anti-dsDNA, anti-phospholipid Ig G/M, anti-cardiolipin Ig G/M, ASMA, APA, ENA, anti-mitochondrial antibodies) (n=76). …”
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KDM6A facilitates Xist upregulation at the onset of X inactivation by Josephine Lin, Jinli Zhang, Li Ma, He Fang, Rui Ma, Camille Groneck, Galina N. Filippova, Xinxian Deng, Chizuru Kinoshita, Jessica E. Young, Wenxiu Ma, Christine M. Disteche, Joel B. Berletch

“…The effects of both homozygous and heterozygous Kdm6a KO on Xist expression during the onset of XCI were measured by RT-PCR and RNA-FISH. …”
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Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency by Riley Hall, Tim Sikora, Annabelle Suter, Jia Yi Kuah, John Christodoulou, Nicole J Van Bergen

“…We have generated stem cells from fibroblasts of two individuals with the same homozygous TRAPPC4 c.454 + 3A > G pathogenic variant and used CRISPR/Cas9 editing to generate heterozygous gene-corrected isogenic controls. …”
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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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Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant by Shweta Jangam, Manju Kurup, Preeti Arora, Shruti Jawale, Prashant Duraphe, Sanjay Gupte

“…The results showed a homozygous autosomal recessive missense c.5849C>T (p.Pro1950Leu) variant in exon 16 of the TRIOBP gene. …”
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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 CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate. by Gülüm Kosova, Joseph K Pickrell, Joanna L Kelley, Patrick F McArdle, Alan R Shuldiner, Mark Abney, Carole Ober

“…The Met470Val locus explained 4.36% of the phenotypic variance in birth rate, and men homozygous for the Met470 allele had 0.56 fewer children on average compared to Val470 carrier men. …”
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