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1041
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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1042
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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1043
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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1044
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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1045
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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1046
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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1047
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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1048
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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1049
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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1050
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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1051
Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome
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1052
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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1053
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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1054
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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1055
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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1056
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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1057
Exploring the genetic correlation and causal relationships between breast cancer and meningioma using bidirectional Mendelian randomization
Published 2025-02-01“…Genetic instrumental variables (IVs) for BC were identified from the Breast Cancer Association Consortium (BCAC), the Discovery Biology and Risk of Inherited Variants in Breast Cancer Consortium (DRIVE), the Collaborative Oncological Gene-environment Study (iCOGS), and 11 other BC genome-wide association studies (GWAS). …”
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1058
Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal adenocarcinoma
Published 2025-04-01“…Summary: Inherited genetics represents an important contributor to risk of esophageal adenocarcinoma (EAC), and its precursor Barrett’s esophagus (BE). …”
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1059
Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis
Published 2025-01-01“…<b>Background</b>: Charcot–Marie–Tooth (CMT) disease is an inherited peripheral neuropathy primarily involving motor and sensory neurons. …”
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1060
Research priorities for autosomal dominant polycystic kidney disease: a UK priority setting partnership
Published 2022-06-01“…Objectives Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney condition, accounting for 7%–10% of patients with kidney failure. …”
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