Categoría: Open access
-
Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials
BackgroundAdeno-associated virus (AAV)-mediated mini- and micro-dystrophin gene therapies have emerged as promising treatments for Duchenne muscular dystrophy (DMD), yet their overall efficacy and safety remain uncertain.ObjectiveTo systematically eval…
-
Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature
BackgroundDysregulation of the RAS-mitogen-activated protein kinase signalling pathway underlies RASopathies, a family of neurodevelopmental disorders associated with variable cancer predisposition. However, the prevalence and spectrum of solid tumours…
-
Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature
WHAT IS ALREADY KNOWN ON THIS TOPICRASopathies are a heterogeneous group of neurodevelopmental disorders caused by germline hyperactivation of the RAS-mitogen-activated protein kinase pathway and are characterised by a variable predisposition to both…
-
Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score
BackgroundHypertrophic cardiomyopathy (HCM) is a heritable trait with marked variability in expression and outcomes. Our aims were to discover new genetic loci associated with HCM and to test the effect of a new polygenic risk score (PRS) on incidence,…
-
Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score
BackgroundHypertrophic cardiomyopathy (HCM) is a heritable trait with marked variability in expression and outcomes. Our aims were to discover new genetic loci associated with HCM and to test the effect of a new polygenic risk score (PRS) on incidence,…
-
Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes
IntroductionRapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants. Although hundreds of genes are implicated in hearing loss, up to half of inherited cases remain unsolved, limiting eligibility for gen…
-
Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes
IntroductionRapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants. Although hundreds of genes are implicated in hearing loss, up to half of inherited cases remain unsolved, limiting eligibility for gen…
-
Exploring the clinical and mutational spectrum of MORC2-associated disorders
BackgroundPathogenic missense variants in the MORC2 gene are associated with two distinct disorders: Charcot-Marie-Tooth disease type 2Z (CMT2Z) and the recently described DIGFAN (developmental delay, impaired growth, dysmorphic facies and axonal neuro…
-
Exploring the clinical and mutational spectrum of MORC2-associated disorders
BackgroundPathogenic missense variants in the MORC2 gene are associated with two distinct disorders: Charcot-Marie-Tooth disease type 2Z (CMT2Z) and the recently described DIGFAN (developmental delay, impaired growth, dysmorphic facies and axonal neuro…
-
Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population
Introduction Hearing loss is a common complex multifactorial disease with numerous underlying causes including environmental, trauma and genetics.1 According to the hereditary hearing loss homepage (https://hereditaryhearingloss.org/), 156 non-syndrom…