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Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism
Primary aldosteronism (PA) is the most common form of endocrine hypertension and is characterized by inappropriately elevated aldosterone production...
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Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes
Deafness and onychodystrophy syndromes are a group of phenotypically overlap** syndromes, which include DDOD syndrome (dominant...
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Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Pathogenic loss-of-function variants in BGN , an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic...
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Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. Whole-exome sequencing (WES)...
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Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA)...
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Structural basis of NLR activation and innate immune signalling in plants
Animals and plants have NLRs (nucleotide-binding leucine-rich repeat receptors) that recognize the presence of pathogens and initiate innate immune...
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Mechanical regulation of chromatin and transcription
Cells and tissues generate and are exposed to various mechanical forces that act across a range of scales, from tissues to cells to organelles....
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Clinical genetics of Charcot–Marie–Tooth disease
Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot–Marie–Tooth (CMT) disease has helped identify the causative...
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Collagen transport and related pathways in Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit...
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Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes...
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Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation
Spontaneous coronary artery dissection (SCAD) is an understudied cause of myocardial infarction primarily affecting women. It is not known to what...
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Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations
BackgroundHypertrophic cardiomyopathy (HCM) is the most common genetic disease of the cardiac muscle, frequently caused by mutations in MYBPC3 ....
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Psychostimulant-induced aberrant DNA methylation in an in vitro model of human peripheral blood mononuclear cells
BackgroundSeveral reports have provided crucial evidence in animal models that epigenetic modifications, such as DNA methylation, may be involved in...
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Deafness: from genetic architecture to gene therapy
Progress in deciphering the genetic architecture of human sensorineural hearing impairment (SNHI) or loss, and multidisciplinary studies of mouse...
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Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain
Secretory carrier membrane proteins (SCAMPs) play an important role in exocytosis in animals, but the precise function of SCAMPs in human disease is...
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DNA methylation signatures of incident coronary heart disease: findings from epigenome-wide association studies
Coronary heart disease (CHD) is a type of cardiovascular disease (CVD) that affects the coronary arteries, which provide oxygenated blood to the...
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Epigenetic modifications in muscle regeneration and progression of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a multisystemic disorder that affects 1:5000 boys. The severity of the phenotype varies dependent on the...
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Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape
We present a comprehensive clinically oriented workflow for large-insert genome sequencing (liGS)-based nucleotide level resolution and...
