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This book includes 17 papers published in the Special Issue/Article Collection “New Insights in the Genetics and Genomics of adrenocortical tumors and pheochromocytomas” including an editorial, 10 research papers and six review articles. Adrenal tumors represent a hot topic in contemporary endocrine oncology. Significant advancements in the genetics of genomics of these tumors have been made in recent years, and these articles give a useful and comprehensive overview of these issues. Questions regarding molecular pathogenesis, diagnosis (biomarkers) and even treatment are discussed in the papers written by international leaders of the field. Manuscripts are focused on three main topics: i. primary aldosteronism (the most common cause of secondary endocrine hypertension), ii. adrenocortical cancer and iii. pheochromocytoma/paraganglioma, which are the tumors with the highest heritability in humans. The book is edited by Prof. Peter Igaz (Department of Endocrinology, Faculty of Medicine, Semmelweis University).
pheochromocytoma --- paraganglioma --- genetics --- non-coding RNA --- malignancy --- biomarker --- treatment --- adaptive metabolism --- adrenal gland --- conn adenoma --- fatty acid metabolism --- ferroptosis --- hyperaldosteronism --- metabolic reprogramming --- β-oxidation --- PPARα --- tumor microenvironment --- Next Generation Sequencing --- hereditary cancer --- endocrine tumor syndrome --- KCNJ5 somatic mutation --- pulse wave velocity --- aldosterone-producing adenoma --- adrenalectomy --- propensity score matching --- arterial stiffness --- pheochromocytomas --- paragangliomas --- mutations --- susceptibility genes --- driver mutations --- hereditary --- germline --- somatic --- environment --- variants --- tumor suppressor genes --- metastatic --- RNAseq --- next generation sequencing --- adrenocortical carcinoma --- in silico analysis --- machine learning --- bioinformatic clustering --- biomarker prediction --- aldosterone producing adenoma --- ATP2B3 --- K416-F418delinsN mutation --- primary aldosteronism --- PPGL --- telomeres --- TERT --- ATRX --- NOP10 --- prognostic biomarker --- ALT --- phaeochromocytoma --- cancer --- mitochondrial complex II --- zebrafish --- therapy --- drug discovery --- redox balance pathway --- Vitamin C --- mitotane --- H295 strains --- microRNA --- aldosterone --- circulating --- adrenocortical --- transcriptomics --- epigenetics --- metabolomics --- epidemiology --- genetic analysis --- mortality --- surveillance --- TP53 R337H --- genetic testing --- adrenocortical tumor --- neonatal screening --- screening --- adenoma --- adrenal --- tissue --- artificial intelligence --- neural network --- n/a
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This book includes 17 papers published in the Special Issue/Article Collection “New Insights in the Genetics and Genomics of adrenocortical tumors and pheochromocytomas” including an editorial, 10 research papers and six review articles. Adrenal tumors represent a hot topic in contemporary endocrine oncology. Significant advancements in the genetics of genomics of these tumors have been made in recent years, and these articles give a useful and comprehensive overview of these issues. Questions regarding molecular pathogenesis, diagnosis (biomarkers) and even treatment are discussed in the papers written by international leaders of the field. Manuscripts are focused on three main topics: i. primary aldosteronism (the most common cause of secondary endocrine hypertension), ii. adrenocortical cancer and iii. pheochromocytoma/paraganglioma, which are the tumors with the highest heritability in humans. The book is edited by Prof. Peter Igaz (Department of Endocrinology, Faculty of Medicine, Semmelweis University).
Medicine --- pheochromocytoma --- paraganglioma --- genetics --- non-coding RNA --- malignancy --- biomarker --- treatment --- adaptive metabolism --- adrenal gland --- conn adenoma --- fatty acid metabolism --- ferroptosis --- hyperaldosteronism --- metabolic reprogramming --- β-oxidation --- PPARα --- tumor microenvironment --- Next Generation Sequencing --- hereditary cancer --- endocrine tumor syndrome --- KCNJ5 somatic mutation --- pulse wave velocity --- aldosterone-producing adenoma --- adrenalectomy --- propensity score matching --- arterial stiffness --- pheochromocytomas --- paragangliomas --- mutations --- susceptibility genes --- driver mutations --- hereditary --- germline --- somatic --- environment --- variants --- tumor suppressor genes --- metastatic --- RNAseq --- next generation sequencing --- adrenocortical carcinoma --- in silico analysis --- machine learning --- bioinformatic clustering --- biomarker prediction --- aldosterone producing adenoma --- ATP2B3 --- K416-F418delinsN mutation --- primary aldosteronism --- PPGL --- telomeres --- TERT --- ATRX --- NOP10 --- prognostic biomarker --- ALT --- phaeochromocytoma --- cancer --- mitochondrial complex II --- zebrafish --- therapy --- drug discovery --- redox balance pathway --- Vitamin C --- mitotane --- H295 strains --- microRNA --- aldosterone --- circulating --- adrenocortical --- transcriptomics --- epigenetics --- metabolomics --- epidemiology --- genetic analysis --- mortality --- surveillance --- TP53 R337H --- genetic testing --- adrenocortical tumor --- neonatal screening --- screening --- adenoma --- adrenal --- tissue --- artificial intelligence --- neural network --- pheochromocytoma --- paraganglioma --- genetics --- non-coding RNA --- malignancy --- biomarker --- treatment --- adaptive metabolism --- adrenal gland --- conn adenoma --- fatty acid metabolism --- ferroptosis --- hyperaldosteronism --- metabolic reprogramming --- β-oxidation --- PPARα --- tumor microenvironment --- Next Generation Sequencing --- hereditary cancer --- endocrine tumor syndrome --- KCNJ5 somatic mutation --- pulse wave velocity --- aldosterone-producing adenoma --- adrenalectomy --- propensity score matching --- arterial stiffness --- pheochromocytomas --- paragangliomas --- mutations --- susceptibility genes --- driver mutations --- hereditary --- germline --- somatic --- environment --- variants --- tumor suppressor genes --- metastatic --- RNAseq --- next generation sequencing --- adrenocortical carcinoma --- in silico analysis --- machine learning --- bioinformatic clustering --- biomarker prediction --- aldosterone producing adenoma --- ATP2B3 --- K416-F418delinsN mutation --- primary aldosteronism --- PPGL --- telomeres --- TERT --- ATRX --- NOP10 --- prognostic biomarker --- ALT --- phaeochromocytoma --- cancer --- mitochondrial complex II --- zebrafish --- therapy --- drug discovery --- redox balance pathway --- Vitamin C --- mitotane --- H295 strains --- microRNA --- aldosterone --- circulating --- adrenocortical --- transcriptomics --- epigenetics --- metabolomics --- epidemiology --- genetic analysis --- mortality --- surveillance --- TP53 R337H --- genetic testing --- adrenocortical tumor --- neonatal screening --- screening --- adenoma --- adrenal --- tissue --- artificial intelligence --- neural network
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Arterial hypertension affects about 1 billion people worldwide and it is the strongest modifiable risk factor for cardiovascular disease and related disability. Since the initial discovery of rare monogenic disorders with large effects, the role of genomics has evolved into large genome-wide association studies detecting common variants with a modest effect size. Similarly, pharmacogenomics has emerged as a new tool for understanding variability in drug response, to maximize efficacy and reduce toxicity. This book presents the most recent advances in the field of genetics and genomics of arterial hypertension and their potential impact on clinical management. The book is a useful tool for clinicians but also to the research community and those who want to be updated in the field.
atrial natriuretic peptide --- T2238C variant --- endothelial dysfunction --- smooth muscle cells contraction --- platelet aggregation --- epigenetics --- cardiovascular diseases --- renin --- low-renin --- hypertension --- mineralocorticoid receptor --- genetics --- aldosterone --- essential hypertension --- blood pressure --- genome-wide association studies --- exome microarray --- next-generation sequencing --- rare variants --- rare-variants association testing --- burden test --- sequence kernel association test --- hypokalemia --- low renin hypertension --- monogenic hypertension --- Liddle syndrome --- SCNN1A --- SCNN1B --- SCNN1G --- non-coding RNA --- micro RNA --- primary aldosteronism --- aldosterone-producing adenoma --- transcriptome profiing --- DNA methylation --- histone modifications --- vascular smooth muscle cells --- endothelial cells --- Kruppel-like factor 15 --- left ventricular hypertrophy --- cardiac hypertrophy --- heart failure --- genetics of left ventricular hypertrophy --- fibromuscular dysplasia --- non atherosclerotic vascular stenosis --- PHACTR1 --- genetic association --- cervical artery dissection --- spontaneous coronary arteries dissection --- CRY1 --- CRY2 --- HSD3B1 --- HSD3B2 --- cardio-tonic steroids --- endogenous ouabain --- adducin --- renal damage --- African American --- ARMC5 --- GRK4 --- CACNA1D --- endocrine hypertension
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Arterial hypertension affects about 1 billion people worldwide and it is the strongest modifiable risk factor for cardiovascular disease and related disability. Since the initial discovery of rare monogenic disorders with large effects, the role of genomics has evolved into large genome-wide association studies detecting common variants with a modest effect size. Similarly, pharmacogenomics has emerged as a new tool for understanding variability in drug response, to maximize efficacy and reduce toxicity. This book presents the most recent advances in the field of genetics and genomics of arterial hypertension and their potential impact on clinical management. The book is a useful tool for clinicians but also to the research community and those who want to be updated in the field.
Research & information: general --- Biology, life sciences --- atrial natriuretic peptide --- T2238C variant --- endothelial dysfunction --- smooth muscle cells contraction --- platelet aggregation --- epigenetics --- cardiovascular diseases --- renin --- low-renin --- hypertension --- mineralocorticoid receptor --- genetics --- aldosterone --- essential hypertension --- blood pressure --- genome-wide association studies --- exome microarray --- next-generation sequencing --- rare variants --- rare-variants association testing --- burden test --- sequence kernel association test --- hypokalemia --- low renin hypertension --- monogenic hypertension --- Liddle syndrome --- SCNN1A --- SCNN1B --- SCNN1G --- non-coding RNA --- micro RNA --- primary aldosteronism --- aldosterone-producing adenoma --- transcriptome profiing --- DNA methylation --- histone modifications --- vascular smooth muscle cells --- endothelial cells --- Kruppel-like factor 15 --- left ventricular hypertrophy --- cardiac hypertrophy --- heart failure --- genetics of left ventricular hypertrophy --- fibromuscular dysplasia --- non atherosclerotic vascular stenosis --- PHACTR1 --- genetic association --- cervical artery dissection --- spontaneous coronary arteries dissection --- CRY1 --- CRY2 --- HSD3B1 --- HSD3B2 --- cardio-tonic steroids --- endogenous ouabain --- adducin --- renal damage --- African American --- ARMC5 --- GRK4 --- CACNA1D --- endocrine hypertension --- atrial natriuretic peptide --- T2238C variant --- endothelial dysfunction --- smooth muscle cells contraction --- platelet aggregation --- epigenetics --- cardiovascular diseases --- renin --- low-renin --- hypertension --- mineralocorticoid receptor --- genetics --- aldosterone --- essential hypertension --- blood pressure --- genome-wide association studies --- exome microarray --- next-generation sequencing --- rare variants --- rare-variants association testing --- burden test --- sequence kernel association test --- hypokalemia --- low renin hypertension --- monogenic hypertension --- Liddle syndrome --- SCNN1A --- SCNN1B --- SCNN1G --- non-coding RNA --- micro RNA --- primary aldosteronism --- aldosterone-producing adenoma --- transcriptome profiing --- DNA methylation --- histone modifications --- vascular smooth muscle cells --- endothelial cells --- Kruppel-like factor 15 --- left ventricular hypertrophy --- cardiac hypertrophy --- heart failure --- genetics of left ventricular hypertrophy --- fibromuscular dysplasia --- non atherosclerotic vascular stenosis --- PHACTR1 --- genetic association --- cervical artery dissection --- spontaneous coronary arteries dissection --- CRY1 --- CRY2 --- HSD3B1 --- HSD3B2 --- cardio-tonic steroids --- endogenous ouabain --- adducin --- renal damage --- African American --- ARMC5 --- GRK4 --- CACNA1D --- endocrine hypertension
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