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1381
Phenotype characterization of interspecific hybrid abalone Haliotis asinina and Haliotis squamata seed
Published 2014-01-01“…Interspesific hybridization between abalone Haliotis asinina and Haliotis squamata is required to produce hybrid seeds having a better phenotype inherited from their parents. Crossbreeding of abalone was done in the reciprocal procedure with a natural spawning technique on mass scale. …”
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1382
Phylogenetic and pangenomic analyses of members of the family <i>Micrococcaceae</i> related to a plant-growth-promoting rhizobacterium isolated from the rhizosphere of potato (<i>S...
Published 2024-05-01“…Within the paradigm with vertically inherited phylogenetic markers, this could be regarded as a signal for their following taxonomic reclassification. …”
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1383
Enhanced Interleukin 6 Trans-Signaling Modulates Disease Process in Amyotrophic Lateral Sclerosis Mouse Models
Published 2025-01-01“…<b>Conclusions:</b> Future work to investigate the site-specific influence of enhanced IL6 trans-signaling and the tissue-specific bioavailability of potential therapeutics will be necessary to identify targets for precise therapeutic interventions that may limit disease progression in the 60% of ALS patients who inherit the common <i>Il6R</i> Asp<sup>358</sup>Ala variant.…”
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1384
Derivation and Characterization of Isogenic <i>OPA1</i> Mutant and Control Human Pluripotent Stem Cell Lines
Published 2025-01-01“…Dominant optic atrophy (DOA) is the most commonly inherited optic neuropathy. The majority of DOA is caused by mutations in the <i>OPA1</i> gene, which encodes a dynamin-related GTPase located to the mitochondrion. …”
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1385
Comparative genomics analysis of the reason for 12C6+ heavy-ion irradiation in improving Fe3O4 nanoparticle yield of Acidithiobacillus ferrooxidans
Published 2025-01-01“…Herein, we employed a 12C6+ heavy-ion beam to induce mutagenesis of A. ferrooxidans BYM and successfully screened a mutant BYMT-200 with a 1.36 mg/L Fe3O4 nanoparticle yield, which could stably inherit over many generations based on assessing cell magnetism and Fe3O4 nanoparticle synthesis. …”
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1386
Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated wit...
Published 2024-11-01“…Frontotemporal dementia with parkinsonism-17 is a neurodegenerative disease characterised by pathological aggregation of the tau protein with the formation of neurofibrillary tangles and subsequent neuronal death. The inherited form of frontotemporal dementia can be caused by mutations in several genes, including the MAPT gene on chromosome 17, which encodes the tau protein. …”
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1387
Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis
Published 2024-11-01“…Systemic autoinflammatory diseases (SAIDs) are a group of inherited monogenic diseases characterized by dysregulated innate immunity leading to excessive activation of inflammatory pathways. …”
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1388
Genomic insights into the specialisation and selection of the Jinding duck
Published 2025-01-01“…A salient discovery was a 200 kb genomic interval containing three genes (NCF2, SMG7, and ARPC5) with almost exclusive haplotypes, which were inherited from Anas platyrhynchos or Anas zonorhyncha, impacting the morphological attributes of JDD. …”
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1389
Blocks identical by descent in the genomes of the indigenous population of Siberia demonstrate genetic links between populations
Published 2023-03-01“…For this, DNA fragments were analyzed, which had been inherited without recombination by each pair of individuals from their recent common ancestor, that is, segments (blocks) identical by descent (IBD). …”
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1390
Observational study on the current status of thalassaemia in Malaysia: a report from the Malaysian Thalassaemia Registry
Published 2020-06-01“…Objective Thalassaemia is the most common inherited blood disorder in Malaysia. This study aims to report the current status of thalassaemia in Malaysia and provide a comprehensive understanding of the disease through data obtained from the Malaysian Thalassaemia Registry.Design Data were extracted from the Malaysian Thalassaemia Registry, a web-based system accessible to enrolled users through www.mytalasemia.net.my.Setting The Malaysian Thalassaemia Registry data was recorded from reports obtained from 110 participating government and university hospitals in Malaysia.Participants The patients were those attending the 110 participating hospitals for thalassaemia treatment.Intervention Data were collected from the Malaysian Thalassaemia Registry from 2007 until the fourth quarter of 2018.Primary outcome measure 7984 out of 8681 patients with thalassaemia registered in the Malaysian Thalassaemia Registry were reported alive.Results Majority of the patients were reported in the state of Sabah (22.72%); the largest age group affected was 5.0–24.9 years old (64.45%); the largest ethnic group involved was Malay (63.95%); and the major diagnosis was haemoglobin E/β-thalassaemia (34.37%). …”
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1391
Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort
Published 2025-01-01“…Variations in the ITM2B gene, typically linked to dominantly inherited dementia, can sometimes present with cerebellar ataxia as an early symptom. …”
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1392
Metabolic profile of blood serum in experimental arterial hypertension
Published 2023-09-01“…Hence, there is a need to perform research on experimental models – inbred animal strains, one of them being ISIAH rat strain, which is designed to simulate inherited stress-induced arterial hypertension as close as possible to primary (or essential) hypertension in humans. …”
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1393
Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome
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1394
The Potential of Digital Storytelling as an Ethnographic Research Technique in Social Sciences
Published 2015-10-01“…However, designing dialogic field research requires refusing those dichotomies, which can be considered to be inherited from a positivist understanding of science. …”
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1395
Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies
Published 2025-01-01“…Notably, neonates carrying pathogenic CNVs inherited from asymptomatic parents demonstrated normal phenotypes.ConclusionThe integration of karyotyping, CNV-seq, and QF-PCR provides superior diagnostic yield compared to individual testing strategies in high-risk pregnancies. …”
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1396
Jackson–Vanik Amendment and Development of Soviet-American Relations in 1972-1975
Published 2020-04-01“…Boris Yeltsin appealed to Bill Clinton multiple times in 1993-1994 requesting removal of discrimination measures in trade and economic relations inherited from the soviet times. The Amendment was not cancelled it was only temporarily suspended. …”
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1397
Genetic Diversity, Association, and Path Coefficient Analyses of Sorghum [Sorghum bicolor (L.) Monech] Genotypes
Published 2024-01-01“…Almost for all the studied traits, genotypic direct and indirect effects were higher than the phenotypic direct and indirect effects, indicating that the studied traits had a genetically inherited relationship with grain yield. Grain yield in sorghum can be improved through indirect selection for traits such as plant height, leaf number, leaf length, leaf width, and biomass yield. …”
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1398
Glycogen Storage Disease Type Ia: A Retrospective Claims Analysis of Complications, Resource Utilization, and Cost of Care
Published 2025-01-01“…**Background:** Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder resulting in potentially life-threatening hypoglycemia, metabolic abnormalities, and complications often requiring hospitalization. …”
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1399
Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway
Published 2025-02-01“…Subsequently, WES identified a rare heterozygous variant of NM_003722.5: c.956G > A (p.Arg319His) in the TP63 gene in the proband, which was inherited from her father who also presented with limb deformities. …”
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1400
Sleep quality among sample of Egyptian patients with Alzheimer’s disease: risk factors and role of genetic profiling for ACE, ACE 2 and APO E genotypes
Published 2025-01-01“…Brain wave research indicate reductions in both REM (dreaming stage) along with NREM (non-dreaming stage). The inherited pattern of Alzheimer’s disease is attributed to presence of genetic polymorphisms. …”
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