Search Results - "Utkina, Marina"
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scRNA sequencing technology for PitNET studies
Published in Frontiers in endocrinology (Lausanne) (24-07-2024)“…Pituitary neuroendocrine tumors (PitNETs) are common, most likely benign tumors with complex clinical characteristics related to hormone hypersecretion and/or…”
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Factors Affecting Cell Viability during the Enzymatic Dissociation of Human Endocrine Tumor Tissues
Published in Biology (Basel, Switzerland) (01-09-2024)“…The enzymatic dissociation of human solid tissues is a critical process for disaggregating extracellular matrix and the isolation of individual cells for…”
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A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy
Published in Genes (28-09-2022)“…Variants of the gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most…”
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Conserved sequences in the Drosophila mod(mdg4) intron promote poly(A)-independent transcription termination and trans-splicing
Published in Nucleic acids research (16-11-2018)“…Abstract Alternative splicing (AS) is a regulatory mechanism of gene expression that greatly expands the coding capacities of genomes by allowing the…”
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Clinical Case Report of Non-Diabetic Hypoglycemia Due to a Combination of Germline Mutations in the MEN1 and ABCC8 Genes
Published in Genes (17-10-2023)“…Introduction: Non-diabetic hypoglycemia (NDH) is a collective term including the multiple causes of hypoglycemic syndrome not due to diabetes mellitus. NDH may…”
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Clinical Case Report of Non-Diabetic Hypoglycemia Due to a Combination of Germline Mutations in the IMEN1/I and IABCC8/I Genes
Published in Genes (01-10-2023)“…Introduction: Non-diabetic hypoglycemia (NDH) is a collective term including the multiple causes of hypoglycemic syndrome not due to diabetes mellitus. NDH may…”
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A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
Published in Genes (07-02-2022)“…Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap…”
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A Splice Variant of the IMYH7/I Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy
Published in Genes (01-09-2022)“…Variants of the MYH7 gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC)…”
Get full text
Journal Article -
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Clinical Case Report of Non-Diabetic Hypoglycemia Due to a Combination of Germline Mutations in the MEN1 and ABCC8 Genes
Published in Genes (17-10-2023)“…INTRODUCTIONNon-diabetic hypoglycemia (NDH) is a collective term including the multiple causes of hypoglycemic syndrome not due to diabetes mellitus. NDH may…”
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A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene
Published in Genes (07-02-2022)Get full text
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