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ProteomicsCombined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report
Background: Patients with neurodevelopmental and neuromuscular disorders often show overlapping clinical phenotypes. Pathogenic variants in KMT5B, a histone lysine methyltransferase, have been linked to neurodevelopmental disorders, yet their effects on human skeletal muscle remain unexplored. We re...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2026-01-05 | PXD071037 | Pride
Kmt5b  muscle denervation in neurodevelopmental disorders  muscle proteomics  fast-twitch fiber predominance  hypotonia  case report 
GenomicsEpigenetic deregulation of KMT5B in glioblastoma
Epigenetic deregulation of the histone methyltransferase KMT5B contributes to malignant transformation in glioblastoma
PRJEB39613 | ENA
ProteomicsDifferentially secreted proteins in KMT5B deficient-cells compared to their isogenic clone KMT5B wild-type assessed by mass spectrometry
In patient-derived DIPG models from multiple patients, with both H3K27M mutation and EZHIP overexpression, were generated CRISPR/Cas9-engineered and subclonal isogenic cells with KMT5B and/or KMT5C deficiency.
ORGANISM(S): Homo sapiens (Human) 
2021-07-20 | PXD026670 | Pride
Crispr Kmt5b Tmt Ms/ms 
GenomicsMechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
PRJNA767091 | ENA
UnknownDifferential effects by sex with Kmt5b loss.
Not available
S-EPMC8328928 | biostudies-literature
UnknownKMT5B is required for early motor development.
Not available
S-EPMC9411648 | biostudies-literature
TranscriptomicsMechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the novelty of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n=43) patient cohort to d...
ORGANISM(S): Mus musculus 
2023-01-01 | GSE184953 | GEO
UnknownMechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Not available
S-EPMC10005179 | biostudies-literature
UnknownRefining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.
Not available
S-EPMC9005902 | biostudies-literature
UnknownEpigenetic Deregulation of the Histone Methyltransferase KMT5B Contributes to Malignant Transformation in Glioblastoma.
Not available
S-EPMC8383299 | biostudies-literature
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