Results 51 to 60 of about 13,098 (199)
Chromatin regulation at the intersection of estrogen receptor and PI3K pathways in breast cancer
Molecular & Cellular Oncology, 2019 Estrogen Receptor (ER) and the phosphoinositide 3-kinase (PI3K) pathways participate in regulatory crosstalk in breast cancer. We identified that chromatin regulation is at the intersection of oncogenic PI3K and ER.
Pau Castel, Eneda Toska
doaj +1 more source
Novel heterozygous variants in KMT2D associated with holoprosencephaly
Clinical Genetics, 2019 Abstract Lysine methyltransferase 2D ( KMT2D ; OMIM 602113) encodes a histone methyltransferase involved in transcriptional regulation of the beta‐globin and estrogen receptor as part of a large protein complex known as activating signal cointegrator‐2‐containing complex ...
Cedrik Tekendo‐Ngongang +3 more
openaire +3 more sources
BMC Pediatrics, 2023 Background Pediatric pulmonary hypertension (PH) is a serious and rare disease that is often derived from genetic mutations. Kabuki syndrome (KS) is a chromosomal abnormality disease that has its origin in the mutation of lysine methyltransferase 2D ...
Xiao-xian Deng +5 more
doaj +1 more source
Loss of Kmt2c or Kmt2d drives brain metastasis via KDM6A-dependent upregulation of MMP3
Nature Cell BiologyKMT2C and KMT2D, encoding histone H3 lysine 4 methyltransferases, are among the most commonly mutated genes in triple-negative breast cancer (TNBC). However, how these mutations may shape epigenomic and transcriptomic landscapes to promote tumorigenesis ...
Marco Seehawer +13 more
semanticscholar +1 more source
Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome
JCEM Case Reports, 2023 Abstract We report a 3-year-old girl with persistent hypoglycemia and hyperinsulinism secondary to KMT2D-associated Kabuki syndrome (KS). During the neonatal period, the patient had multiple complications, including gastroesophageal reflux disease, failure to thrive, G-tube dependence, congenital heart disease, and persistent ...
Mariana Nunez Stosic, Patricia Gomez
openaire +2 more sources
Cell ReportsSUMMARY Mammalian genomes replicate in a cell-type-specific order during the S phase, correlated to transcriptional activity, histone modifications, and chromatin structure. The causal relationships between these features and DNA replication timing (RT),
Deniz Gökbuget +5 more
semanticscholar +1 more source
Comparison of Methylation Episignatures in KMT2B - and KMT2D -Related Human Disorders
Epigenomics, 2022 Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of ∼2 M CpGs using a next-generation sequencing-based assay and compared the findings with those in controls and patients with KMT2D-related Kabuki syndrome type 1 (KS1).
Lee, Sunwoo +11 more
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bioRxivKabuki syndrome type 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function variants in KMT2D which encodes a H3K4 methyltransferase. The mechanisms underlying neurodevelopmental problems in KS1 are still largely unknown.
S. Cuvertino +10 more
semanticscholar +1 more source
KMT2D Is a Haploinsufficient Tumor Suppressor in Acute Leukemia
Blood, 2018 Abstract Introduction: Epigenetic dysregulation plays a critical role in hematologic tumorigenesis and cancer progression. Histone-lysine N-methyltransferase 2D (KMT2D), also known as MLL4 (mixed-lineage leukemia 4), belongs to a family of mammalian histone H3 lysine 4 (H3K4) methyltransferases, which is amongst the most frequently ...
Jing Xu, Yu Liu, Chong Chen, Ting Niu
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Stem Cells International, 2022 Objectives. Kabuki syndrome (KS) is a rare genetic disorder characterized by developmental delay, retarded growth, and cardiac, gastrointestinal, neurocognitive, renal, craniofacial, dental, and skeletal defects.
Badam Enkhmandakh +6 more
doaj +1 more source