01f9bf34-620b-4843-8c9b-d07d11b2dd13
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromePyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrationsCommon Genetic Variants Contribute to Risk of Transposition of the Great ArteriesSingle-cell analysis uncovers that metabolic reprogramming by ErbB2 signaling is essential for cardiomyocyte proliferation in the regenerating heartDevelopmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for DesminopathiesA Nodal-independent and tissue-intrinsic mechanism controls heart-looping chiralityZebrafish prrx1a mutants have normal heartsThe zebrafish cohesin protein Sgo1 is required for cardiac function and eye developmentTwisting of the zebrafish heart tube during cardiac looping is a tbx5-dependent and tissue-intrinsic processHeterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesityNoonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafishGNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityGlypican4 promotes cardiac specification and differentiation by attenuating canonical Wnt and Bmp signalingPHYTOCHROME B and HISTONE DEACETYLASE 6 Control Light-Induced Chromatin Compaction in Arabidopsis thalianaGLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delayNodal signaling range is regulated by proprotein convertase-mediated maturationNotch and Bmp signaling pathways act coordinately during the formation of the proepicardiumBiallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organizationVariants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndromeA de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorderEffective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disordersIdentification and functional characterization of cardiac pacemaker cells in zebrafishThe centriolar satellite protein Cfap53 facilitates formation of the zygotic microtubule organizing center in the zebrafish embryoIdentification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 RegulationSox4 mediates Tbx3 transcriptional regulation of the gap junction protein Cx43Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesIdentification of human D lactate dehydrogenase deficiencyGermline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle controlAsymmetric Hapln1a drives regionalised cardiac ECM expansion and promotes heart morphogenesis in zebrafish developmentGenetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancerABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9Genetic Dissection of Morphometric Traits Reveals that Phytochrome B Affects Nucleus Size and Heterochromatin Organization in Arabidopsis thaliana