keyword
MENU ▼
Read by QxMD icon Read
search

Kdm6a

keyword
https://www.readbyqxmd.com/read/29907798/congenital-hyperinsulinism-as-the-presenting-feature-of-kabuki-syndrome-clinical-and-molecular-characterization-of-10-affected-individuals
#1
Kai Lee Yap, Amy E Knight Johnson, David Fischer, Priscilla Kandikatla, Jacea Deml, Viswateja Nelakuditi, Sara Halbach, George S Jeha, Lindsay C Burrage, Olaf Bodamer, Valeria C Benavides, Andrea M Lewis, Sian Ellard, Pratik Shah, Declan Cody, Alejandro Diaz, Aishwarya Devarajan, Lisa Truong, Siri Atma W Greeley, Diva D De Leó-Crutchlow, Andrew C Edmondson, Soma Das, Paul Thornton, Darrel Waggoner, Daniela Del Gaudio
PURPOSE: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI. METHODS: We documented the clinical features and molecular diagnoses of 10 infants with persistent HI and KS via a combination of sequencing and copy-number profiling methodologies. Subsequently, we retrospectively evaluated 100 infants with HI lacking a genetic diagnosis, for causative variants in KS genes...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29902804/congenital-hyperinsulinism-in-infants-with-turner-syndrome-possible-association-with-monosomy-x-and-kdm6a-haploinsufficiency
#2
Christopher E Gibson, Kara E Boodhansingh, Changhong Li, Laura Conlin, Pan Chen, Susan A Becker, Tricia Bhatti, Vaneeta Bamba, N Scott Adzick, Diva D De Leon, Arupa Ganguly, Charles A Stanley
BACKGROUND: Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. OBJECTIVE: We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children's Hospital of Philadelphia (CHOP) between 1974 and 2017. METHODS: Records of girls with hyperinsulinism and Turner syndrome were reviewed. Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome...
June 14, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29873146/a-prokineticin-driven-epigenetic-switch-regulates-human-epicardial-cell-stemness-and-fate
#3
Rehana Qureshi, Michel Kindo, Mounia Boulberdaa, Jean-Jacques von Hunolstein, Marja Steenman, Canan G Nebigil
Epicardial adipose tissues (EAT) and vascular tissues may both belong to the mesoepithelial lineage that develops from epicardium-derived progenitor cells (EPDCs) in developing and injured hearts. Very little is known of the molecular mechanisms of EPDC contribution in EAT development and neovascularization in adult heart, which the topic remains a subject of intense therapeutic interest and scientific debate. Here we studied the epigenetic control of stemness and anti-adipogenic and pro-vasculogenic fate of hEPDCs, through investigating an angiogenic hormone, prokineticin-2 (PK2) signaling via its receptor PKR1...
June 6, 2018: Stem Cells
https://www.readbyqxmd.com/read/29846646/sex-differences-in-the-methylome-and-transcriptome-of-the-human-liver-and-circulating-hdl-cholesterol-levels
#4
Sonia García-Calzón, Alexander Perfilyev, Vanessa D Mello, Jussi Pihlajamäki, Charlotte Ling
Context: Epigenetics may contribute to sex-specific differences in human liver metabolism. Objective: To study the impact of sex on DNA methylation and gene expression in human liver. Design/setting: cross-sectional, Kuopio Obesity Surgery Study. Participants/Intervention: We analyzed DNA methylation with the Infinium HumanMethylation450 BeadChip in liver of an obese population (34 males, 61 females). Females had higher HDL-cholesterol levels compared with males...
May 28, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29785653/valproic-acid-treatment-response-in-vitro-is-determined-by-tp53-status-in-medulloblastoma
#5
Bruna Mascaro-Cordeiro, Indhira Dias Oliveira, Francine Tesser-Gamba, Lorena Favaro Pavon, Nasjla Saba-Silva, Sergio Cavalheiro, Patrícia Dastoli, Silvia Regina Caminada Toledo
PURPOSE: Histone deacetylate inhibitors (HDACi), as valproic acid (VA), have been reported to enhance efficacy and to prevent drug resistance in some tumors, including medulloblastoma (MB). In the present study, we investigated VA role, combined to cisplatin (CDDP) in cell viability and gene expression of MB cell lines. METHODS: Dose-response curve determined IC50 values for each treatment: (1) VA single, (2) CDDP single, and (3) VA and CDDP combined. Cytotoxicity and flow cytometry evaluated cell viability after exposure to treatments...
May 22, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29785026/resetting-the-epigenetic-balance-of-polycomb-and-compass-function-at-enhancers-for-cancer-therapy
#6
Lu Wang, Zibo Zhao, Patrick A Ozark, Damiano Fantini, Stacy A Marshall, Emily J Rendleman, Kira A Cozzolino, Nundia Louis, Xingyao He, Marc A Morgan, Yoh-Hei Takahashi, Clayton K Collings, Edwin R Smith, Panagiotis Ntziachristos, Jeffrey N Savas, Lihua Zou, Rintaro Hashizume, Joshua J Meeks, Ali Shilatifard
The lysine methyltransferase KMT2C (also known as MLL3), a subunit of the COMPASS complex, implements monomethylation of Lys4 on histone H3 (H3K4) at gene enhancers. KMT2C (hereafter referred to as MLL3) frequently incurs point mutations across a range of human tumor types, but precisely how these lesions alter MLL3 function and contribute to oncogenesis is unclear. Here we report a cancer mutational hotspot in MLL3 within the region encoding its plant homeodomain (PHD) repeats and demonstrate that this domain mediates association of MLL3 with the histone H2A deubiquitinase and tumor suppressor BAP1...
May 21, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29755455/rnai-based-identification-of-gene-specific-nuclear-cofactor-networks-regulating-interleukin-1-target-genes
#7
Johanna Meier-Soelch, Liane Jurida, Axel Weber, Doris Newel, Johnny Kim, Thomas Braun, M Lienhard Schmitz, Michael Kracht
The potent proinflammatory cytokine interleukin (IL)-1 triggers gene expression through the NF-κB signaling pathway. Here, we investigated the cofactor requirements of strongly regulated IL-1 target genes whose expression is impaired in p65 NF-κB-deficient murine embryonic fibroblasts. By two independent small-hairpin (sh)RNA screens, we examined 170 genes annotated to encode nuclear cofactors for their role in Cxcl2 mRNA expression and identified 22 factors that modulated basal or IL-1-inducible Cxcl2 levels...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29740925/metformin-directly-targets-the-h3k27me3-demethylase-kdm6a-utx
#8
Elisabet Cuyàs, Sara Verdura, Laura Llorach-Pares, Salvador Fernández-Arroyo, Fedra Luciano-Mateo, Noemí Cabré, Jan Stursa, Lukas Werner, Begoña Martin-Castillo, Benoit Viollet, Jiri Neuzil, Jorge Joven, Alfons Nonell-Canals, Melchor Sanchez-Martinez, Javier A Menendez
Metformin, the first drug chosen to be tested in a clinical trial aimed to target the biology of aging per se, has been clinically exploited for decades in the absence of a complete understanding of its therapeutic targets or chemical determinants. We here outline a systematic chemoinformatics approach to computationally predict biomolecular targets of metformin. Using several structure- and ligand-based software tools and reference databases containing 1,300,000 chemical compounds and more than 9,000 binding sites protein cavities, we identified 41 putative metformin targets including several epigenetic modifiers such as the member of the H3K27me3-specific demethylase subfamily, KDM6A/UTX...
May 8, 2018: Aging Cell
https://www.readbyqxmd.com/read/29736013/utx-mediated-enhancer-and-chromatin-remodeling-suppresses-myeloid-leukemogenesis-through-noncatalytic-inverse-regulation-of-ets-and-gata-programs
#9
Malgorzata Gozdecka, Eshwar Meduri, Milena Mazan, Konstantinos Tzelepis, Monika Dudek, Andrew J Knights, Mercedes Pardo, Lu Yu, Jyoti S Choudhary, Emmanouil Metzakopian, Vivek Iyer, Haiyang Yun, Naomi Park, Ignacio Varela, Ruben Bautista, Grace Collord, Oliver Dovey, Dimitrios A Garyfallos, Etienne De Braekeleer, Saki Kondo, Jonathan Cooper, Berthold Göttgens, Lars Bullinger, Paul A Northcott, David Adams, George S Vassiliou, Brian J P Huntly
The histone H3 Lys27-specific demethylase UTX (or KDM6A) is targeted by loss-of-function mutations in multiple cancers. Here, we demonstrate that UTX suppresses myeloid leukemogenesis through noncatalytic functions, a property shared with its catalytically inactive Y-chromosome paralog, UTY (or KDM6C). In keeping with this, we demonstrate concomitant loss/mutation of KDM6A (UTX) and UTY in multiple human cancers. Mechanistically, global genomic profiling showed only minor changes in H3K27me3 but significant and bidirectional alterations in H3K27ac and chromatin accessibility; a predominant loss of H3K4me1 modifications; alterations in ETS and GATA-factor binding; and altered gene expression after Utx loss...
May 7, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29725259/expanding-the-oro-dental-and-mutational-spectra-of-kabuki-syndrome-and-expression-of-kmt2d-and-kdm6a-in-human-tooth-germs
#10
Thantrira Porntaveetus, Mushriq F Abid, Thanakorn Theerapanon, Chalurmpon Srichomthong, Atsushi Ohazama, Katsushige Kawasaki, Maiko Kawasaki, Kanya Suphapeetiporn, Paul T Sharpe, Vorasuk Shotelersuk
Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, intellectual disability, and multiple developmental abnormalities. Despite more than 350 documented cases, the oro-dental spectrum associated with kabuki syndrome and expression of KMT2D (histone-lysine N-methyltransferase 2D) or KDM6A (lysine-specific demethylase 6A) genes in tooth development have not been well defined. Here, we report seven unrelated Thai patients with Kabuki syndrome having congenital absence of teeth, malocclusion, high-arched palate, micrognathia, and deviated tooth shape and size...
2018: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29617172/a-case-of-exudative-vitreoretinopathy-and-chorioretinal-coloboma-associated-with-microcephaly-in-a-female-with-contiguous-xp11-3-11-4-deletion
#11
Anne-Marie Hinds, Elisabeth Rosser, M Ashwin Reddy
The constellation of signs including microcephaly, retinal colobomas, and exudative vitreo-retinopathy suggests a mutation of the KIF-11 gene on chromosome 10q. We report a female infant with these features but due, instead, to a contiguous gene deletion on chromosome Xp including the OMIM morbid genes CASK, KDM6A, NDP, MAOA, NYX, and DDX3X. The NDP deletion could account for the exudative retinopathy and the CASK deletion for the microcephaly, while CASK and KDM6A have both been associated with coloboma. This case highlights genetic heterogeneity for the clustering of these signs...
June 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29616081/insertion-deletion-within-the-kdm6a-gene-is-significantly-associated-with-litter-size-in-goat
#12
Yang Cui, Hailong Yan, Ke Wang, Han Xu, Xuelian Zhang, Haijing Zhu, Jinwang Liu, Lei Qu, Xianyong Lan, Chuanying Pan
A previous whole-genome association analysis identified lysine demethylase 6A ( KDM6A ), which encodes a type of histone demethylase, as a candidate gene associated to goat fecundity. KDM6A gene knockout mouse disrupts gametophyte development, suggesting that it has a critical role in reproduction. In this study, goat KDM6A mRNA expression profiles were determined, insertion/deletion (indel) variants in the gene identified, indel variants effect on KDM6A gene expression assessed, and their association with first-born litter size analyzed in 2326 healthy female Shaanbei white cashmere goats...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29573965/the-evolution-of-bladder-cancer-genomics-what-have-we-learned-and-how-can-we-use-it
#13
REVIEW
François Audenet, Kyrollis Attalla, John P Sfakianos
BACKGROUND: With advancements in molecular biology techniques, great progress has been made in the understanding of urothelial carcinoma pathogenesis. OBJECTIVE: To examine the historic description of molecular alterations in bladder cancer and their evolution towards our current comprehension of the biology of the disease. RESULTS: Historically, a two-pathway model was described from histological and cytogenetic studies: low-grade papillary non-muscle invasive bladder cancers (NMIBC) were described to arise from epithelial hyperplasia with loss of chromosome 9 as an early event, whereas muscle-invasive bladder cancers (MIBC) were considered to develop from dysplasia, associated with genetic instability...
March 21, 2018: Urologic Oncology
https://www.readbyqxmd.com/read/29572233/kdm6a-loss-induces-aggressive-pancreatic-cancer-in-mice
#14
(no author information available yet)
Loss of the X chromosome-encoded KDM6A aberrantly activates oncogenic superenhancers.
May 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29536651/neurobehavioral-features-in-individuals-with-kabuki-syndrome
#15
Cristina Caciolo, Paolo Alfieri, Giorgia Piccini, Maria Cristina Digilio, Francesca Romana Lepri, Marco Tartaglia, Deny Menghini, Stefano Vicari
BACKGROUND: Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in cohorts of patients enrolled on the basis of clinical assessment. The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A. METHODS: The aims of the present study were to investigate the neuropsychological and behavioral profiles of individuals with molecularly confirmed diagnosis of KS, and determine the extent of heterogeneity occurring in these profiles between individuals with clinical diagnosis of KS with and without mutations in KMT2D...
March 13, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29533787/loss-of-kdm6a-activates-super-enhancers-to-induce-gender-specific-squamous-like-pancreatic-cancer-and-confers-sensitivity-to-bet-inhibitors
#16
Jaclyn Andricovich, Stephanie Perkail, Yan Kai, Nicole Casasanta, Weiqun Peng, Alexandros Tzatsos
KDM6A, an X chromosome-encoded histone demethylase and member of the COMPASS-like complex, is frequently mutated in a broad spectrum of malignancies and contributes to oncogenesis with poorly characterized mechanisms. We found that KDM6A loss induced squamous-like, metastatic pancreatic cancer selectively in females through deregulation of the COMPASS-like complex and aberrant activation of super-enhancers regulating ΔNp63, MYC, and RUNX3 oncogenes. This subtype of tumor developed in males had concomitant loss of UTY and KDM6A, suggesting overlapping roles, and points to largely demethylase independent tumor suppressor functions...
March 12, 2018: Cancer Cell
https://www.readbyqxmd.com/read/29528362/histone-3-lysine-4-9-and-27-demethylases-expression-profile-in-fertilized-and-cloned-bovine-and-porcine-embryos
#17
Werner Giehl Glanzner, Vitor Braga Rissi, Mariana Priotto de Macedo, Lady Katerine Serrano Mujica, Karina Gutierrez, Alessandra Bridi, João Ricardo Malheiros de Souza, Paulo Bayard Dias Gonçalves, Vilceu Bordignon
Epigenetic modifications in the C-terminal domain of histones coordinate important events during early development including embryo genome activation (EGA) and cell differentiation. In this study, the mRNA expression profile of the main lysine demethylases (KDMs) acting on the lysine 4 (H3K4), 9 (H3K9) and 27 (H3K27) of the histone H3 was determined at pre-, during and post- EGA stages of bovine and porcine embryos produced by in vitro fertilization (IVF) and somatic cell nuclear transfer (SCNT). In IVF embryos, mRNA abundance of most KDMs revealed a bell-shaped profile with peak expression around the EGA period, i...
March 8, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29489735/cancer-management-in-kabuki-syndrome-the-first-case-of-wilms-tumor-and-a-literature-review
#18
Hideto Teranishi, Yuhki Koga, Kentaro Nakashima, Eiji Morihana, Kanako Ishii, Yasunari Sakai, Tomoaki Taguchi, Yoshinao Oda, Noriko Miyake, Naomichi Matsumoto, Shouichi Ohga
A 3-year-old Japanese girl treated for hypoplastic left heart syndrome and Dandy-Walker syndrome was diagnosed with Kabuki syndrome (KS) with a mutation of KMT2D; c.13285C>T:p.Q4429*. Concurrently, macrohematuria portended the diagnosis of Wilms tumor. Postoperative chemotherapy has achieved complete remission despite a prolonged and reduced regimen due to liver dysfunction and convulsions. Cancer predisposition has been suggested for KS due to oncogenic mutations in KMT2D or KDM6A. The first case of nephroblastoma exemplified the treatability of malignancies in KS patients, as shown in the 9 cases reviewed...
February 27, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29484429/downregulated-mir-23b-3p-expression-acts-as-a-predictor-of-hepatocellular-carcinoma-progression-a-study-based-on-public-data-and-rt-qpcr-verification
#19
Rong-Quan He, Pei-Rong Wu, Xue-Lian Xiang, Xia Yang, Hai-Wei Liang, Xiao-Hui Qiu, Li-Hua Yang, Zhi-Gang Peng, Gang Chen
Mounting evidence has shown that miR-23b-3p, which is associated with cell proliferation, invasion, and apoptosis, acts as a biomarker for diagnosis and outcomes in numerous cancers. However, the clinicopathological implication of miR-23b-3p in hepatocellular carcinoma (HCC) remains unclear. Our study evaluated the role of miR-23b-3p in HCC and investigated its potential application as a marker for preliminary diagnosis and therapy in HCC. High-throughput data from the NCBI Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA) were collected and analyzed...
May 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29482518/identification-of-novel-kmt2d-mutations-in-two-chinese-children-with-kabuki-syndrome-a-case-report-and-systematic-literature-review
#20
Chengqi Xin, Chun Wang, Yachen Wang, Jingyuan Zhao, Liang Wang, Runjie Li, Jing Liu
BACKGROUND: Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have been proven to be the primary cause in most cases of KS. CASE PRESENTATION: Here we report two Chinese boys with clinical features of KS referred to our hospital for clinical diagnosis. Next-generation sequencing was performed on MiSeq to analyze the genetic mutations in both patients...
February 27, 2018: BMC Medical Genetics
keyword
keyword
22446
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"