Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis by Shiyue Ma, Lingjian Tang, Chaoli Wu, Hui Tang, Xue Pu, Jinhong Niu

“…DNA sequencing showed that His54Pro, Leu1858Val, and 6531-12C>T compound heterozygous mutations were present in the SPTA1 gene of patient I-1, Arg344Gln and c.609+86G>A heterozygous mutations were present in the SLC4A1 gene of patient II-1, and Leu2032Pro homozygous mutation was present in the SPTB gene of patient III-1. …”
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IL18 Polymorphism and Periodontitis Susceptibility, Regardless of IL12B, MMP9, and Smoking Habits by Patrícia Yumeko Tsuneto, Victor Hugo de Souza, Josiane Bazzo de Alencar, Joana Maira Valentini Zacarias, Cléverson O. Silva, Jeane Eliete Laguila Visentainer, Ana Maria Sell

“…In the multivariate analyses, homozygous IL18-137G/G and IL18-607C/C were more frequent in males compared to women with these same genotypes (OR=2.51 and OR=3.30, respectively). …”
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ANALYSIS OF A GENETIC COLLECTION OF TOMATO CULTIVARS AND HYBRID FORMS FOR RESISTANCE TO LEAF MOLD USING DNA MARKERS by I. N. Shamshin, M. V. Maslova, Y. V. Gryazneva

“…The data obtained during the work show that the majority of the studied samples turned out to be heterozygous. At the same time, homozygous forms were also noted. For in­stance, the ‘Golden Rain’ tomato cultivar has only one 250 bp fragment, which corresponds to a recessive homo­zygote. …”
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Food Intake and Core Body Temperature of Pups and Adults in a db Mouse Line Deficient in the Long Form of the Leptin Receptor without Misty Mutation by Wijang Pralampita Pulong, Miharu Ushikai, Emi Arimura, Masaharu Abe, Hiroaki Kawaguchi, Masahisa Horiuchi

“…Adult (8 weeks of age) homozygous db/db mice displayed significantly higher core body weight (BW) and FI and significantly lower core BT than WT mice. …”
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Loss of protein C vs protein S results in discrepant thrombotic phenotypes by Chia-Jui Ku, Xinge Yu, Queena Y. Zhao, Steven J. Grzegorski, Jeffrey G. Daniel, Allison C. Ferguson, Jordan A. Shavit

“…Heterozygous mutations increase the risk of adult-onset thrombosis, whereas homozygous mutations result in pre/neonatal lethal thrombosis. …”
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Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population by Junli Song, Jie Hou, Qiang Zhao, Xuezhi Liu, Qian Guo, Donghong Yin, Yan Song, Xiaoxia Li, Shuyun Wang, Xinchun Wang, Jinju Duan

“…The plasma homocysteine level of the homozygous TT in individuals was significantly higher than in those with CC or CT P<0.01. …”
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Allelic variation in an expansin, MdEXP-A1, contributes to flesh firmness at harvest in apples by Qiufang Su, Yifeng Feng, Xianglu Li, Zidun Wang, Yuanwen Zhong, Zhengyang Zhao, Huijuan Yang

“…Furthermore, the genotype of Del-1166 (homozygous deletion) in the MdEXP-A1 promoter was closely associated with the super-hard phenotype of F1 hybrids, which could be used as a functional marker for marker-assisted selection (MAS) in apple. …”
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Association of the Genetic Polymorphisms in Transcription Factor 7-Like 2 and Peroxisome Proliferator-Activated Receptors-γ2 with Type 2 Diabetes Mellitus and Its Interaction with... by Habiba Al-Safar, Ahmed Hassoun, Shaikha Almazrouei, Wala Kamal, Bachar Afandi, Naushad Rais

“…PPAR-γ2 risk allele Pro12 frequency (0.96) was similar in the groups tested and more than 90% population was homozygous for this allele. Conclusions. Our case-control study is the first of its kind in Emiratis which establishes TCF7L2 rs10885409 C allele as a T2DM risk factor in Emiratis and this association is modulated by obesity status. …”
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Synergetic effect of fungal pretreatment and lignin modification on delignification and saccharification: a case study of a natural lignin mutant in mulberry by James Paul T. Madigal, Masami Terasaki, Masatsugu Takada, Shinya Kajita

“…Both heterozygous (CAD/cad) and homozygous (cad/cad, null mutant) mulberry plants were derived from the same parents via backcrossing between Sekizaisou (cad/cad, seed parent), a natural lignin mutant, and its F1 progeny (CAD/cad, pollen parent). …”
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Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia by D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake

“…The identified variants are as follows: homozygous c.7397C > A (p.Ala2466Glu) and c.510_511delGT (p.Tyr171fs) and compound heterozygous c.5347_5350delGAAA (p.Glu1783fs), c.8137A > T (p.Arg2713∗) and c.1163A > C (p.Lys388Thr), and c.5227A > C (p.Thr1743Pro). …”
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Factors affecting DH plants <i>in vitro</i> production from microspores of European radish by E. V. Kozar, E. A. Domblides, A. V. Soldatenko

“…Doubled haploid technology considerably curtails the time required for creation of homozygous constant parental cell lines when in vitro microspore culture is used as the most promising method. …”
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Genetic variation in zona pellucida-3 (ZP3) gene and its association with litter size variation in Kari sheep by Izaz Ali, Muhammad Ibrahim, Sohail Ahmad, Sher Hayat Khan, Ihtesham Ul Haq, Ibrahim A. Alhidary, Rifat Ullah Khan, Naseer Khan Momand, Marco Ragni

“…Two missense mutations (I101L in exon 1 and R408H in exon 8) were heterozygous in twin-producing Kari ewes but homozygous in other groups, correlating with LS. Protein modelling suggested that the I101L mutation alters the binding site, potentially impacting protein function. …”
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Transcription factor DREF regulates expression of the microRNA gene <i>bantam in Drosophila melanogaster</i> by M. B.  Schwartz, M. M. Prudnikova, O. V. Andreenkov, E. I. Volkova, I. F. Zhimulev, O. V. Antonenko, S.  A. Demakov

“…Using transgenic lines containing a fulllength bantam lethality-rescuing deletion fragment and a fragment with a disrupted DREF binding site, we show that these motifs are functionally significant because their disruption at the bantam locus reduces expression levels in the larvae and ovaries of homozygous flies, which correlates with reduced vitality and fertility. …”
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Biotechnological methods as a tool for efficient sugar beet breeding by T. P. Zhuzhzhalova, E. O. Kolesnikova, E. N. Vasilchenko, N. N. Cherkasova

“…As compared to common inbreeding, this method shortens the time for development of homozygous material from 10-12 to 3-5 years, which is of great importance for speeding-up the breeding process. …”
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Study of the interphase period “shoots–earing” of the initial parental forms and hybrids of triticale with different Vrn genes by P. I. Stepochkin, M. V. Emtseva

“…The combination of two dominant genes in the hybrids, except for the combination VrnD1×VrnD4, in homozygous or heterozygous state in the genotype of plants shortened the interphase period “shoots–earing” in comparison with the parental forms and the joint action of the VrnA1 and VrnD1 genes resulted in the emergence of plants with the shortest interphase period in comparison with all triticale forms studied.…”
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Modern trends in breeding and genetic improvement of sunflower varieties and hybrids at VNIIMK by V. M. Lukomets, M. V. Trunovа, Ya. N. Demurin

“…A practical recommendation for all three alleles of the ALS gene (Imr, CLHA-Plus, Sur) was the need to create homozygous hybrids for their reliable use in appropriate production systems. …”
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Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy by Helena Escobar, Silvia Di Francescantonio, Julia Smirnova, Robin Graf, Stefanie Müthel, Andreas Marg, Alexej Zhogov, Supriya Krishna, Eric Metzler, Mina Petkova, Oliver Daumke, Ralf Kühn, Simone Spuler

“…We targeted a frequent loss-of-function, DYSF exon 44, founder frameshift mutation with mRNA-mediated delivery of SpCas9 in combination with a mutation-specific sgRNA to primary muscle stem cells from two homozygous patients. We observed a consistent >60% exon 44 re-framing, rescuing a full-length and functional dysferlin protein. …”
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NKG2D Signaling Leads to NK Cell Mediated Lysis of Childhood AML by Patrick Schlegel, Kerstin Ditthard, Peter Lang, Markus Mezger, Sebastian Michaelis, Rupert Handgretinger, Matthias Pfeiffer

“…No impact of KIR ligand-ligand mismatch was found but a significantly increased lysis of homozygous C2 blasts by KIR2DL1 negative NK cells (donor B) was revealed. …”
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A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa by Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY

“…However, since the patient is homozygous and the mother is heterozygous, only the patient has the phenotype and the mother is normal. …”
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Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families by Maria Valencia, Lara Tabet, Nadine Yazbeck, Alia Araj, Victor L. Ruiz-Perez, Khalil Charaffedine, Farah Fares, Rebecca Badra, Chantal Farra

“…We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the EVC2 gene, c.2653C>T (p.…”
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