Bate palmas mutant mice as a model of Kabuki syndrome: Higher susceptibility to infections and vocalization impairments?
Sign Up to like & getrecommendations! Published in 2022 at "Journal of neuroscience research"
DOI: 10.1002/jnr.25050
Abstract: The recessive mutant mouse bate palmas (bapa) arose from N-ethyl-N-nitrosourea mutagenesis. Previous studies of our group revealed some behavioral impairments and a mutation in the lysine (K)-specific methyltransferase 2D (Kmt2d) gene. Because mutations in the… read more here.
Keywords: bapa mice; kabuki syndrome; model kabuki; mice ... See more keywords
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0623-x
Abstract: Purpose Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality. To assess the frequency… read more here.
Keywords: registry study; 177 individuals; kabuki syndrome; manifestations kabuki ... See more keywords
When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0707-7
Abstract: To the Editor: In 2006, Watson et al. recommended, during their participation in an American College of Medical Genetics (ACMG) Newborn Screening Expert Group, a uniform panel of conditions for inclusion in state newborn screening… read more here.
Keywords: medicine; immunodeficiency; kabuki syndrome; disease ... See more keywords
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1701645
Abstract: Kabuki syndrome (KS) is a rare genetic condition with multiple congenital abnormalities and developmental delay. The cardinal manifestations of KS include characteristic facial features, intellectual disability, skeletal defects, dermatoglyphic abnormalities, and postnatal growth deficiencies. Cardiac… read more here.
Keywords: kabuki syndrome; corpus callosum; focal epilepsy; form ... See more keywords
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac121
Abstract: Kabuki syndrome (KS) is frequently caused by loss-of-function mutations in one allele of the H3K4 methyltransferase KMT2D and is associated with problems in neurological, immunological, and skeletal system development. We generated heterozygous KMT2D knock-out and… read more here.
Keywords: cell; stem cell; methyltransferase kmt2d; kmt2d ... See more keywords
Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinemic hypoglycemia.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical endocrinology"
DOI: 10.1111/cen.14267
Abstract: BACKGROUND AND OBJECTIVE Kabuki syndrome (KS), caused by pathogenic variants in KMT2D or KDM6A, is associated with hyperinsulinemic hypoglycemia (HH) in 0.3-4% of patients. We characterized the clinical, biochemical and molecular data of children with… read more here.
Keywords: hyperinsulinemic hypoglycemia; kabuki syndrome; meta; meta analysis ... See more keywords
Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "JCI insight"
DOI: 10.1172/jci.insight.129375
Abstract: Chromatin modifiers act to coordinate gene expression changes critical to neuronal differentiation from neural stem/progenitor cells (NSPCs). Lysine-specific methyltransferase 2D (KMT2D) encodes a histone methyltransferase that promotes transcriptional activation, and is frequently mutated in cancers… read more here.
Keywords: oxygen; kmt2d deficient; kabuki syndrome; precocious neuronal ... See more keywords
Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki Syndrome mice.
Sign Up to like & getrecommendations! Published in 2019 at "JCI insight"
DOI: 10.1172/jci.insight.129380
Abstract: Kabuki syndrome 1 (KS1) is a Mendelian disorder of the epigenetic machinery caused by mutations in the gene encoding KMT2D, which methylates lysine 4 on histone H3 (H3K4). KS1 is characterized by intellectual disability, postnatal… read more here.
Keywords: chondrocyte differentiation; kabuki syndrome; precocious chondrocyte; chondrocyte ... See more keywords
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction
Sign Up to like & getrecommendations! Published in 2021 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-021-01692-w
Abstract: Background Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used in… read more here.
Keywords: kabuki syndrome; dynamic simulations; dysfunction; c1153r ... See more keywords
Atypical Diabetes Mellitus Associated With Kabuki Syndrome: A Model of Epigenetic Disturbance in Insulin Resistance?
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DOI: 10.1210/jendso/bvab048.751
Abstract: Abstract Background: Kabuki syndrome (KS) is a genetically heterogeneous disorder characterized by striking facial features similar to make-up of actors in Japanese Kabuki performance together with multi-organ defects. The first identified and most frequently involved… read more here.
Keywords: insulin; age; kabuki syndrome; insulin resistance ... See more keywords
PRIMARY AMENORRHEA IN KABUKI SYNDROME: A CASE REPORT
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DOI: 10.16965/ijar.2018.192
Abstract: Address for Correspondence: Dr Sarah Ramamurthy, Assistant Professor, Department of Anatomy, Pondicherry Institute of Medical Sciences, Kalapet, Pondicherry, India. Phone:9962267590 E-Mail: [email protected] Kabuki syndrome also called as Niikawa Kuroki syndrome is a paediatric congenital disorder… read more here.
Keywords: kabuki syndrome; primary amenorrhea; amenorrhea kabuki; syndrome case ... See more keywords