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8801
Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency
Published 2024-12-01“…Objective. To elucidate the genetic defect conferring impaired immunity in a patient diagnosed with common variable immunodeficiency. …”
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8802
The Significant Effects of Threshold Selection for Advancing Nitrogen Use Efficiency in Whole Genome of Bread Wheat
Published 2025-01-01“…ABSTRACT Currently in wheat breeding, genome wide association studies (GWAS) have successfully revealed the genetic basis of complex traits such as nitrogen use efficiency (NUE) and its biological processes. …”
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8803
Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in a 13-Year-Old Ethiopian Girl with Autosomal Dominant Interferon Gamma Receptor 1(IFN-γ R1) Defect: A Clinical Diagnosti...
Published 2022-01-01“…The definitive diagnosis is made by genetic analysis. Treatments constitute antimycobacterial, interferon-gamma, surgery, and hematopoietic stem cell transplantation (HSCT), which is the only known curative treatment. …”
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8804
Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease
Published 2025-01-01“…Abstract Polycystic kidney diseases (PKD) are genetic disorders which disrupt kidney architecture and function. …”
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8805
Effects of Colchicine and <sup>60</sup>Co-γ Radiation Treatments on the Leaf Size and Fruit Quality of Kiwifruit ‘Donghong’
Published 2025-01-01“…And, except for the 0.4c mutant, all other mutant materials exhibited significant genetic changes at the DNA level.…”
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8806
Intracranial germ cell tumors: advancement in genomic diagnostics and the need for novel therapeutics
Published 2025-01-01“…In this review, we will discuss profiling of intracranial GCTs for genetic and epigenetic signatures, which are emerging as promising biomarkers to assist in the diagnosis and management of intracranial GCTs. …”
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8807
Exploring the link between gut health, diet, and food allergy
Published 2024-09-01“…The etiology of food allergy is multifactorial, involving a complex interplay of genetic, environmental and immunological factors. …”
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8808
Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report
Published 2025-01-01“…The mechanisms of their formation are different, and they can occur independently. Rare genetic syndromes or inherited diseases can cause different health problems, such as lymphoma and ichthyosis, to occur together.…”
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8809
Agro-Morphological Characterization of Kenyan Slender Leaf (Crotalaria brevidens and C. ochroleuca) Accessions
Published 2020-01-01“…For a long time, this crop has been neglected in terms of research and genetic improvement. There is therefore scanty information on its morphological diversity and agronomic performance, hence the need for this study. …”
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8810
SNP-array profiling data from breast cancer patients and healthy women's blood DNA samplesGEO
Published 2025-04-01“…The aforementioned discovery provides evidence in favor of the concept that genetic factors may contribute to the onset of breast cancer. …”
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8811
From barcodes to genomes: a new era of molecular exploration in bryophyte research
Published 2025-01-01“…By highlighting key findings from recent genetic and genomic research, we underscore the importance of integrating molecular data with traditional morphological approaches. …”
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8812
A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report
Published 2025-01-01“…This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). …”
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8813
Rabies re-emergence after long-term disease freedom (Amur Oblast, Russia)
Published 2022-12-01“…Nucleotide sequences of the nucleoprotein gene of three rabies virus isolates were determined and their belonging to the Arctic-like-2 genetic lineage was established. Genetically closest rabies virus isolates have been found in Heilongjiang Province (China, 2011, 2018) and Jewish Autonomous Oblast (Russia, 1980). …”
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8814
Breast Carcinoma, Intratumour Heterogeneity and Histological Grading, Using Geostatistics
Published 2000-01-01“…Tumour progression is currently believed to result from genetic instability. Chromosomal patterns specific of a type of cancer are frequent even though phenotypic spatial heterogeneity is omnipresent. …”
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8815
The geographical distribution, trophic modes, and host preferences of Fomitopsis pinicola in Central Europe: a comprehensive review
Published 2025-02-01“…In silico analysis of available F. pinicola ITS sequences indicates its genetic homogeneity in Central Europe and the adjacent regions. …”
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8816
EMT-driven plasticity prospectively increases cell–cell variability to promote therapeutic adaptation in breast cancer
Published 2025-02-01“…Abstract Cellular plasticity enables cancer cells to adapt non-genetically, thereby preventing therapeutic success. …”
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8817
Relationship between personality traits and spontaneous coronary artery dissection risk: evidence from Mendelian randomization
Published 2025-02-01“…These findings were further substantiated by multivariate MR analyses.ConclusionsIn summary, this study identified a significant association between genetically predicted neuroticism scores and an elevated risk of SCAD. …”
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8818
Ecological drift during colonization drives within-host and between-host heterogeneity in an animal-associated symbiont.
Published 2024-04-01“…Consistent with predictions from the neutral theory of biodiversity, we found that ecological drift alone can account for heterogeneity in symbiont community composition between hosts, even when 2 strains are nearly genetically identical. When acting on competing strains, ecological drift can maintain symbiont genetic diversity among different hosts by stochastically determining the dominant strain within each host. …”
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8819
Pseudomonas cold shock proteins suppress bacterial effector translocation in Nicotiana benthamiana
Published 2025-01-01“…Here, we employed this model system to explore the in vivo roles of CSPs in modulating plant immunity by multiple genetic approaches.ResultsOur findings revealed that three highly-conserved CSPs were identified in Pseudomonas strains. …”
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8820
The role of Anatolia between Asia and Europe: A case study of oak gall wasp species, Cynips quercus (Hymenoptera, Cynipidae)
Published 2023-03-01“…Our analyses revealed that the highest genetic diversity was in Türkiye followed by Iran, Hungary, and Spain, respectively. …”
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