-
181
Impact of hydroxyurea on clinical and biological parameters of sickle cell anemia in children in Abidjan
Published 2024-02-01“…More than 75% of patients were homozygous SSFA2 major sickle cell individuals. After 6 months on hydroxyurea, our study observed rates of 84.4%, 100%, and 97.8%, respectively, for the absence of vaso-occlusive crises, hospitalization, and transfusion. …”
Get full text
Article -
182
Selection of promising apple genotypes for columnar growth habit and scab resistance using diagnostic DNA markers
Published 2016-08-01“…The hybrid seedlings that had the dominant Co allele together with the Rvi6 gene in the homozygous dominant state (Rvi6 Rvi6) in their genome have been identified, which can significantly intensify the selection process and run it into 100 % of hybrid seedlings with monogenic scab resistance and up to 50 % of genotypes with columnar growth habit.…”
Get full text
Article -
183
Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis
Published 2022-01-01“…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. …”
Get full text
Article -
184
IL18 Polymorphism and Periodontitis Susceptibility, Regardless of IL12B, MMP9, and Smoking Habits
Published 2019-01-01“…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). …”
Get full text
Article -
185
ANALYSIS OF A GENETIC COLLECTION OF TOMATO CULTIVARS AND HYBRID FORMS FOR RESISTANCE TO LEAF MOLD USING DNA MARKERS
Published 2019-10-01“…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. …”
Get full text
Article -
186
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
Published 2018-01-01“…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. …”
Get full text
Article -
187
Loss of protein C vs protein S results in discrepant thrombotic phenotypes
Published 2025-02-01“…Heterozygous mutations increase the risk of adult-onset thrombosis, whereas homozygous mutations result in pre/neonatal lethal thrombosis. …”
Get full text
Article -
188
Polymorphism of MTHFR C677T Gene and the Associations with the Severity of Essential Hypertension in Northern Chinese Population
Published 2020-01-01“…The plasma homocysteine level of the homozygous TT in individuals was significantly higher than in those with CC or CT P<0.01. …”
Get full text
Article -
189
Allelic variation in an expansin, MdEXP-A1, contributes to flesh firmness at harvest in apples
Published 2025-01-01“…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. …”
Get full text
Article -
190
Synergetic effect of fungal pretreatment and lignin modification on delignification and saccharification: a case study of a natural lignin mutant in mulberry
Published 2025-01-01“…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). …”
Get full text
Article -
191
Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia
Published 2020-01-01“…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). …”
Get full text
Article -
192
Factors affecting DH plants <i>in vitro</i> production from microspores of European radish
Published 2020-03-01“…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. …”
Get full text
Article -
193
Genetic variation in zona pellucida-3 (ZP3) gene and its association with litter size variation in Kari sheep
Published 2025-12-01“…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. …”
Get full text
Article -
194
Transcription factor DREF regulates expression of the microRNA gene <i>bantam in Drosophila melanogaster</i>
Published 2024-04-01“…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. …”
Get full text
Article -
195
Biotechnological methods as a tool for efficient sugar beet breeding
Published 2020-03-01“…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. …”
Get full text
Article -
196
Study of the interphase period “shoots–earing” of the initial parental forms and hybrids of triticale with different Vrn genes
Published 2017-11-01“…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.…”
Get full text
Article -
197
Modern trends in breeding and genetic improvement of sunflower varieties and hybrids at VNIIMK
Published 2021-07-01“…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. …”
Get full text
Article -
198
NKG2D Signaling Leads to NK Cell Mediated Lysis of Childhood AML
Published 2015-01-01“…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. …”
Get full text
Article -
199
A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa
Published 2025-02-01“…However, since the patient is homozygous and the mother is heterozygous, only the patient has the phenotype and the mother is normal. …”
Get full text
Article -
200
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families
Published 2015-01-01“…We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the EVC2 gene, c.2653C>T (p.…”
Get full text
Article