Journal of the American College of Cardiology, ISSN 0735-1097, 2015, Volume 65, Issue 13, pp. 1324 - 1336
Abstract Background Aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture....
Cardiovascular | Internal Medicine | Loeys-Dietz syndrome | TGF-β pathway | thoracic aortic aneurysm | gene | Gene | Thoracic aortic aneurysm | CARDIAC & CARDIOVASCULAR SYSTEMS | DE-NOVO MUTATION | PHENOTYPE | MARFAN | REFERENCE VALUES | PREDICTION | FEATURES | PATHOGENESIS | GROWTH-FACTOR-BETA | OVERGROWTH | TGF-beta pathway | PEPTIDE DOMAIN | MIM, Mendelian Inheritance in Man | TGF, transforming growth factor | TGFBR, transforming growth factor beta receptor | LOF, loss of function | SNP, single nucleotide polymorphism | LDS, Loeys-Dietz syndrome | TAAD, thoracic aortic aneurysms and dissections | Original Investigation | LAP, latency-associated peptide | MFS, Marfan syndrome
Cardiovascular | Internal Medicine | Loeys-Dietz syndrome | TGF-β pathway | thoracic aortic aneurysm | gene | Gene | Thoracic aortic aneurysm | CARDIAC & CARDIOVASCULAR SYSTEMS | DE-NOVO MUTATION | PHENOTYPE | MARFAN | REFERENCE VALUES | PREDICTION | FEATURES | PATHOGENESIS | GROWTH-FACTOR-BETA | OVERGROWTH | TGF-beta pathway | PEPTIDE DOMAIN | MIM, Mendelian Inheritance in Man | TGF, transforming growth factor | TGFBR, transforming growth factor beta receptor | LOF, loss of function | SNP, single nucleotide polymorphism | LDS, Loeys-Dietz syndrome | TAAD, thoracic aortic aneurysms and dissections | Original Investigation | LAP, latency-associated peptide | MFS, Marfan syndrome
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 2016, Volume 67, Issue 5, pp. 515 - 525
Abstract Background Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding...
Cardiovascular | Internal Medicine | homozygous alpha-kinase 3 mutations | exome sequencing | hypertrophy | intercalated disc | PLAKOGLOBIN | PATHWAYS | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | PROTEIN | ALPHA | FAMILIAL DILATED CARDIOMYOPATHY | CONGENITAL HEART-DISEASE | OUTCOMES | RIGHT-VENTRICULAR CARDIOMYOPATHY | Genetic Predisposition to Disease | Prognosis | Genetic Association Studies | Humans | Echocardiography - methods | Muscle Proteins - genetics | Cardiomyopathies - genetics | Cell Differentiation - genetics | Exome - genetics | Animals | Myocytes, Cardiac - physiology | Age of Onset | Cardiomyopathies - diagnosis | Mice | Mutation | Pediatrics | Medical colleges | Genetic aspects | Cardiomyopathy | Heart diseases | Medical genetics | Neuromuscular diseases | Genes | Mortality | Families & family life | Genomes | Patients | Studies | Proteins | Morphology | Fibroblasts | Software | Genetic testing | Age | Deoxyribonucleic acid--DNA
Cardiovascular | Internal Medicine | homozygous alpha-kinase 3 mutations | exome sequencing | hypertrophy | intercalated disc | PLAKOGLOBIN | PATHWAYS | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | PROTEIN | ALPHA | FAMILIAL DILATED CARDIOMYOPATHY | CONGENITAL HEART-DISEASE | OUTCOMES | RIGHT-VENTRICULAR CARDIOMYOPATHY | Genetic Predisposition to Disease | Prognosis | Genetic Association Studies | Humans | Echocardiography - methods | Muscle Proteins - genetics | Cardiomyopathies - genetics | Cell Differentiation - genetics | Exome - genetics | Animals | Myocytes, Cardiac - physiology | Age of Onset | Cardiomyopathies - diagnosis | Mice | Mutation | Pediatrics | Medical colleges | Genetic aspects | Cardiomyopathy | Heart diseases | Medical genetics | Neuromuscular diseases | Genes | Mortality | Families & family life | Genomes | Patients | Studies | Proteins | Morphology | Fibroblasts | Software | Genetic testing | Age | Deoxyribonucleic acid--DNA
Journal Article
Nature Genetics, ISSN 1061-4036, 2019, Volume 51, Issue 1, pp. 42 - +
Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1-2%)(1-3) that frequently presents with ascending aortic aneurysm...
ZINC-FINGER TARGETER | CELLS | ANGIOGENESIS | ZIFIT | DISEASE | GENETICS & HEREDITY | PHENOTYPE | FRAMEWORK | MUTATIONS | DILATION | BETA | Aortic Aneurysm, Thoracic - genetics | Aortic Valve - abnormalities | Humans | Mice, Inbred C57BL | Cells, Cultured | Male | Zebrafish | Mutation - genetics | Mice, Knockout | Phenotype | Animals | Heart Valve Diseases - genetics | Female | Mice | Endothelial Cells - physiology | Disease Models, Animal | Receptors, Cell Surface - genetics | Heart valve diseases | Medical research | Genetic disorders | Gene mutations | Medicine, Experimental | Development and progression | Aortic aneurysms | Genetic aspects | Congenital heart disease | Health aspects | Endothelium | Animal models | Mesenchyme | Genomics | Genes | Aneurysm | Aneurysms | Genomes | Defects | Cell adhesion & migration | Genotype & phenotype | Etiology | Aorta | Rheumatic heart disease | Bioinformatics | Growth factors | Deoxyribonucleic acid--DNA | CRISPR | Phenotypes | Heredity | Thorax | Endothelial cells | Coronary vessels | Cell lines | Mutation | Aortic valve
ZINC-FINGER TARGETER | CELLS | ANGIOGENESIS | ZIFIT | DISEASE | GENETICS & HEREDITY | PHENOTYPE | FRAMEWORK | MUTATIONS | DILATION | BETA | Aortic Aneurysm, Thoracic - genetics | Aortic Valve - abnormalities | Humans | Mice, Inbred C57BL | Cells, Cultured | Male | Zebrafish | Mutation - genetics | Mice, Knockout | Phenotype | Animals | Heart Valve Diseases - genetics | Female | Mice | Endothelial Cells - physiology | Disease Models, Animal | Receptors, Cell Surface - genetics | Heart valve diseases | Medical research | Genetic disorders | Gene mutations | Medicine, Experimental | Development and progression | Aortic aneurysms | Genetic aspects | Congenital heart disease | Health aspects | Endothelium | Animal models | Mesenchyme | Genomics | Genes | Aneurysm | Aneurysms | Genomes | Defects | Cell adhesion & migration | Genotype & phenotype | Etiology | Aorta | Rheumatic heart disease | Bioinformatics | Growth factors | Deoxyribonucleic acid--DNA | CRISPR | Phenotypes | Heredity | Thorax | Endothelial cells | Coronary vessels | Cell lines | Mutation | Aortic valve
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 657 - 663
The progressive myoclonus epilepsies (PMEs) are a group of predominantly recessive disorders that present with action myoclonus, tonic-clonic seizures, and...
SYSTEM | COMPLEX | ALIGNMENT | GENETICS & HEREDITY | PROTEINS | SACCHAROMYCES-CEREVISIAE | GENOME | DELETION | Amino Acid Sequence | SNARE Proteins - genetics | Humans | Molecular Sequence Data | Qb-SNARE Proteins - genetics | Male | Genetic Markers | Spinocerebellar Degenerations - genetics | Genes, Recessive | Lod Score | Myoclonic Epilepsies, Progressive - pathology | Homozygote | Phenotype | Pedigree | Spinocerebellar Degenerations - pathology | Female | Myoclonic Epilepsies, Progressive - genetics | Consanguinity | Mutation | Child | Golgi Apparatus - genetics | Vesicles | Myoclonus | Creatine kinase | Scoliosis | Epilepsy | Ataxia | Age | Golgi apparatus | Seizures | chromosome 17 | Report
SYSTEM | COMPLEX | ALIGNMENT | GENETICS & HEREDITY | PROTEINS | SACCHAROMYCES-CEREVISIAE | GENOME | DELETION | Amino Acid Sequence | SNARE Proteins - genetics | Humans | Molecular Sequence Data | Qb-SNARE Proteins - genetics | Male | Genetic Markers | Spinocerebellar Degenerations - genetics | Genes, Recessive | Lod Score | Myoclonic Epilepsies, Progressive - pathology | Homozygote | Phenotype | Pedigree | Spinocerebellar Degenerations - pathology | Female | Myoclonic Epilepsies, Progressive - genetics | Consanguinity | Mutation | Child | Golgi Apparatus - genetics | Vesicles | Myoclonus | Creatine kinase | Scoliosis | Epilepsy | Ataxia | Age | Golgi apparatus | Seizures | chromosome 17 | Report
Journal Article
Nature Genetics, ISSN 1061-4036, 2011, Volume 43, Issue 2, pp. 121 - 126
Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a...
INDIVIDUALS | GROWTH-FACTOR-BETA | ACTIVATION | DESIGN | DISC | MARFAN-SYNDROME | GENETICS & HEREDITY | RECEPTOR | Signal Transduction | Humans | Aorta, Thoracic - metabolism | Osteoarthritis - metabolism | Family Health | Male | Osteoarthritis - genetics | Syndrome | Aortic Aneurysm - complications | Immunohistochemistry - methods | Radiography | Smad3 Protein - genetics | Chromosomes, Human, Pair 15 | Age of Onset | Female | Mutation | Aortic Aneurysm - genetics | Aortic Aneurysm - diagnostic imaging | Transforming Growth Factor beta - metabolism | Osteoarthritis - complications | Gene mutations | Aneurysms | Genetic aspects | Research | Health aspects | Osteoarthritis | Risk factors | Haplotypes | Studies | Pathology | Survival analysis | Genetics | Arthritis | Genetic testing | Dissection | Deoxyribonucleic acid--DNA
INDIVIDUALS | GROWTH-FACTOR-BETA | ACTIVATION | DESIGN | DISC | MARFAN-SYNDROME | GENETICS & HEREDITY | RECEPTOR | Signal Transduction | Humans | Aorta, Thoracic - metabolism | Osteoarthritis - metabolism | Family Health | Male | Osteoarthritis - genetics | Syndrome | Aortic Aneurysm - complications | Immunohistochemistry - methods | Radiography | Smad3 Protein - genetics | Chromosomes, Human, Pair 15 | Age of Onset | Female | Mutation | Aortic Aneurysm - genetics | Aortic Aneurysm - diagnostic imaging | Transforming Growth Factor beta - metabolism | Osteoarthritis - complications | Gene mutations | Aneurysms | Genetic aspects | Research | Health aspects | Osteoarthritis | Risk factors | Haplotypes | Studies | Pathology | Survival analysis | Genetics | Arthritis | Genetic testing | Dissection | Deoxyribonucleic acid--DNA
Journal Article
Frontiers in Physiology, ISSN 1664-042X, 06/2017, Volume 8, Issue JUN, p. 400
textabstractBicuspid aortic valve (BAV) is the most common congenital heart defect. Although many BAV patients remain asymptomatic, at least 20% develop...
SMAD6 | Thoracic aortic aneurysm | Variant burden test | Bicuspid aortic valve | Targeted gene panel | PHYSIOLOGY | INHIBITORY SMADS | VARIANTS | NITRIC-OXIDE SYNTHASE | GATA5 | targeted gene panel | SHPRINTZEN-GOLDBERG SYNDROME | variant burden test | thoracic aortic aneurysm | bicuspid aortic valve | MARFAN-SYNDROME | NOTCH1 MUTATIONS | DISEASE | DISSECTIONS | OSTEOARTHRITIS
SMAD6 | Thoracic aortic aneurysm | Variant burden test | Bicuspid aortic valve | Targeted gene panel | PHYSIOLOGY | INHIBITORY SMADS | VARIANTS | NITRIC-OXIDE SYNTHASE | GATA5 | targeted gene panel | SHPRINTZEN-GOLDBERG SYNDROME | variant burden test | thoracic aortic aneurysm | bicuspid aortic valve | MARFAN-SYNDROME | NOTCH1 MUTATIONS | DISEASE | DISSECTIONS | OSTEOARTHRITIS
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2016, Volume 18, Issue 9, pp. 914 - 923
Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes...
aortic valve | NOTCH1 | hypoplastic left heart syndrome | VARIANTS | bicuspid | HYPOPLASTIC LEFT-HEART | CARDIAC ANOMALIES | IDENTIFICATION | HAPLOINSUFFICIENCY | INTEGRATION | DISEASE | ADAMS-OLIVER SYNDROME | BICUSPID AORTIC-VALVE | NEURAL CREST | aortic coarctation | GENETICS & HEREDITY | Aortic Aneurysm, Thoracic - genetics | Humans | Middle Aged | Heart Failure - physiopathology | Child, Preschool | Heart Failure - genetics | Male | Hypoplastic Left Heart Syndrome - physiopathology | Aortic Aneurysm, Thoracic - physiopathology | Heart Defects, Congenital - genetics | Pedigree | Adolescent | Adult | Female | Aged | Heart Defects, Congenital - physiopathology | Aorta - physiopathology | Hypoplastic Left Heart Syndrome - genetics | Mutation | Receptor, Notch1 - genetics | Child
aortic valve | NOTCH1 | hypoplastic left heart syndrome | VARIANTS | bicuspid | HYPOPLASTIC LEFT-HEART | CARDIAC ANOMALIES | IDENTIFICATION | HAPLOINSUFFICIENCY | INTEGRATION | DISEASE | ADAMS-OLIVER SYNDROME | BICUSPID AORTIC-VALVE | NEURAL CREST | aortic coarctation | GENETICS & HEREDITY | Aortic Aneurysm, Thoracic - genetics | Humans | Middle Aged | Heart Failure - physiopathology | Child, Preschool | Heart Failure - genetics | Male | Hypoplastic Left Heart Syndrome - physiopathology | Aortic Aneurysm, Thoracic - physiopathology | Heart Defects, Congenital - genetics | Pedigree | Adolescent | Adult | Female | Aged | Heart Defects, Congenital - physiopathology | Aorta - physiopathology | Hypoplastic Left Heart Syndrome - genetics | Mutation | Receptor, Notch1 - genetics | Child
Journal Article
Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 9, pp. 1173 - 1192
Simultaneous analysis of multiple genes using next-generation sequencing (NGS) technology has become widely available. Copy-number variations (CNVs) in...
thoracic aortic dissection | eXome hidden Markov model | genetics | copy‐number variations | thoracic aortic aneurysm | copy-number variations | GENOTYPE-PHENOTYPE CORRELATIONS | CLINICAL-FEATURES | LOSARTAN THERAPY | TGFBR2 MUTATIONS | MARFAN-SYNDROME | GENETICS & HEREDITY | LOEYS-DIETZ-SYNDROME | ARTERIAL-TORTUOSITY-SYNDROME | FBN1 MUTATIONS | EHLERS-DANLOS-SYNDROME | SYNDROME TYPE-IV | Aortic Aneurysm, Thoracic - genetics | Genetic Predisposition to Disease | Genetic Testing | Humans | Middle Aged | Cyclic GMP-Dependent Protein Kinase Type I - genetics | Male | DNA Copy Number Variations - genetics | Aortic Diseases - genetics | Exome - genetics | Phenotype | Aortic Aneurysm, Thoracic - pathology | Scavenger Receptors, Class F - genetics | Chromosome Aberrations | Adult | Female | High-Throughput Nucleotide Sequencing | Receptor, Notch1 - genetics | Aorta, Thoracic - pathology | Aortic Diseases - pathology | Algorithms | Diagnostic equipment (Medical) | Analysis | Genes | Genetic research | Markov processes | Aneurysms | Genetic aspects | Aorta | Phenotypes | Smad3 protein | Thorax | Clonal deletion | Genetic analysis
thoracic aortic dissection | eXome hidden Markov model | genetics | copy‐number variations | thoracic aortic aneurysm | copy-number variations | GENOTYPE-PHENOTYPE CORRELATIONS | CLINICAL-FEATURES | LOSARTAN THERAPY | TGFBR2 MUTATIONS | MARFAN-SYNDROME | GENETICS & HEREDITY | LOEYS-DIETZ-SYNDROME | ARTERIAL-TORTUOSITY-SYNDROME | FBN1 MUTATIONS | EHLERS-DANLOS-SYNDROME | SYNDROME TYPE-IV | Aortic Aneurysm, Thoracic - genetics | Genetic Predisposition to Disease | Genetic Testing | Humans | Middle Aged | Cyclic GMP-Dependent Protein Kinase Type I - genetics | Male | DNA Copy Number Variations - genetics | Aortic Diseases - genetics | Exome - genetics | Phenotype | Aortic Aneurysm, Thoracic - pathology | Scavenger Receptors, Class F - genetics | Chromosome Aberrations | Adult | Female | High-Throughput Nucleotide Sequencing | Receptor, Notch1 - genetics | Aorta, Thoracic - pathology | Aortic Diseases - pathology | Algorithms | Diagnostic equipment (Medical) | Analysis | Genes | Genetic research | Markov processes | Aneurysms | Genetic aspects | Aorta | Phenotypes | Smad3 protein | Thorax | Clonal deletion | Genetic analysis
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2018, Volume 26, Issue 11, pp. 1611 - 1622
Acrodysostosis (MIM 101800) is a dominantly inherited condition associating (1) skeletal features (short stature, facial dysostosis, and brachydactyly with...
PROTEIN-KINASE-A | CYCLIC-AMP | AUTOSOMAL-DOMINANT TRANSMISSION | PSEUDOHYPOPARATHYROIDISM | HORMONE RESISTANCE | MENTAL-RETARDATION | PRKAR1A MUTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | IDENTIFIES PDE4D MUTATIONS | NASAL HYPOPLASIA | PERIPHERAL DYSOSTOSIS | Knee | Hypoplasia | Phenotypes | Dysplasia | Growth rate | Intellectual disabilities | Medical records | Dysostosis | Risk factors | Bone dysplasia | Skeleton | Cardiovascular diseases | Thromboembolism | Brachydactyly | Genotypes | Phosphodiesterase | Life Sciences | Genetics
PROTEIN-KINASE-A | CYCLIC-AMP | AUTOSOMAL-DOMINANT TRANSMISSION | PSEUDOHYPOPARATHYROIDISM | HORMONE RESISTANCE | MENTAL-RETARDATION | PRKAR1A MUTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | IDENTIFIES PDE4D MUTATIONS | NASAL HYPOPLASIA | PERIPHERAL DYSOSTOSIS | Knee | Hypoplasia | Phenotypes | Dysplasia | Growth rate | Intellectual disabilities | Medical records | Dysostosis | Risk factors | Bone dysplasia | Skeleton | Cardiovascular diseases | Thromboembolism | Brachydactyly | Genotypes | Phosphodiesterase | Life Sciences | Genetics
Journal Article
European journal of human genetics, ISSN 1018-4813, 2018, Volume 26, Issue 11, pp. 1603 - 1610
The pathogenicity of previously published disease-associated genes and variants is sometimes questionable. Large-scale, population-based sequencing studies...
HYPERTROPHIC CARDIOMYOPATHY | PATHOGENICITY | PROTEIN | ESC | CALRETICULIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | GUIDELINES | GENETICS & HEREDITY | GENETIC-VARIANTS | DIAGNOSTICS | Pathogenicity | Population studies | Calreticulin | Statistical analysis | Cardiomyopathy | Decision making
HYPERTROPHIC CARDIOMYOPATHY | PATHOGENICITY | PROTEIN | ESC | CALRETICULIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | GUIDELINES | GENETICS & HEREDITY | GENETIC-VARIANTS | DIAGNOSTICS | Pathogenicity | Population studies | Calreticulin | Statistical analysis | Cardiomyopathy | Decision making
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 11/2017, Volume 190, pp. 275 - 279
The cause of PHACE syndrome is unknown. In a study of 218 patients, we examined potential prenatal risk factors for PHACE syndrome. Rates of pre-eclampsia and...
hemangioma | disease pathogenesis | perinatal risk factors | INFANTILE HEMANGIOMAS | PEDIATRICS | PREVALENCE | HYPOXIA | ANOMALIES | PLACENTA | United States - epidemiology | Cross-Sectional Studies | Prenatal Care - statistics & numerical data | Humans | Risk Factors | Eye Abnormalities - epidemiology | Male | Aortic Coarctation - etiology | Placenta Previa | Pregnancy | Neurocutaneous Syndromes - etiology | Eye Abnormalities - etiology | Pre-Eclampsia | Female | Registries | Aortic Coarctation - epidemiology | Neurocutaneous Syndromes - epidemiology | Infant, Newborn | Genetic research | Medicine, Experimental | Medical research | Eye diseases | Pregnant women | Risk factors
hemangioma | disease pathogenesis | perinatal risk factors | INFANTILE HEMANGIOMAS | PEDIATRICS | PREVALENCE | HYPOXIA | ANOMALIES | PLACENTA | United States - epidemiology | Cross-Sectional Studies | Prenatal Care - statistics & numerical data | Humans | Risk Factors | Eye Abnormalities - epidemiology | Male | Aortic Coarctation - etiology | Placenta Previa | Pregnancy | Neurocutaneous Syndromes - etiology | Eye Abnormalities - etiology | Pre-Eclampsia | Female | Registries | Aortic Coarctation - epidemiology | Neurocutaneous Syndromes - epidemiology | Infant, Newborn | Genetic research | Medicine, Experimental | Medical research | Eye diseases | Pregnant women | Risk factors
Journal Article