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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
#1
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...
April 4, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29616081/insertion-deletion-within-the-kdm6a-gene-is-significantly-associated-with-litter-size-in-goat
#2
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
#3
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
#4
(no author information available yet)
Loss of the X chromosome-encoded KDM6A aberrantly activates oncogenic superenhancers.
March 23, 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29536651/neurobehavioral-features-in-individuals-with-kabuki-syndrome
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/29340104/somatic-mutation-dynamics-in-mds-patients-treated-with-azacitidine-indicate-clonal-selection-in-patients-responders
#11
Kamila Polgarova, Karina Vargova, Vojtech Kulvait, Nina Dusilkova, Lubomir Minarik, Zuzana Zemanova, Michal Pesta, Anna Jonasova, Tomas Stopka
Azacitidine (AZA) for higher risk MDS patients is a standard therapy with limited durability. To monitor mutation dynamics during AZA therapy we utilized massive parallel sequencing of 54 genes previously associated with MDS/AML pathogenesis. Serial sampling before and during AZA therapy of 38 patients (reaching median overall survival 24 months (Mo) with 60% clinical responses) identified 116 somatic pathogenic variants with allele frequency (VAF) exceeding 5%. High accuracy of data was achieved via duplicate libraries from myeloid cells and T-cell controls...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29330206/evolution-of-cytogenetically-normal-acute-myeloid-leukemia-during-therapy-and-relapse-an-exome-sequencing-study-of-50-patients
#12
Philipp A Greif, Luise Hartmann, Sebastian Vosberg, Sophie M Stief, Raphael Mattes, Ines Hellmann, Klaus H Metzeler, Tobias Herold, Stefanos A Bamopoulos, Paul Kerbs, Vindi Jurinovic, Daniela Schumacher, Friederike Pastore, Kathrin Bräundl, Evelyn Zellmeier, Bianka Ksienzyk, Nikola P Konstandin, Stephanie Schneider, Alexander Graf, Stefan Krebs, Helmut Blum, Martin Neumann, Claudia D Baldus, Stefan K Bohlander, Stephan Wolf, Dennis Görlich, Wolfgang E Berdel, Bernhard J Wörmann, Wolfgang Hiddemann, Karsten Spiekermann
Purpose: To study mechanisms of therapy resistance and disease progression, we analyzed the evolution of cytogenetically normal acute myeloid leukemia (CN-AML) based on somatic alterations. Experimental Design: We performed exome sequencing of matched diagnosis, remission, and relapse samples from 50 CN-AML patients treated with intensive chemotherapy. Mutation patterns were correlated with clinical parameters. Results: Evolutionary patterns correlated with clinical outcome. Gain of mutations was associated with late relapse...
April 1, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29321178/transcription-factor-dependent-anti-repressive-mammalian-enhancers-exclude-h3k27me3-from-extended-genomic-domains
#13
Madhurima Saxena, Adrianna K San Roman, Nicholas K O'Neill, Rita Sulahian, Unmesh Jadhav, Ramesh A Shivdasani
Compacted chromatin and nucleosomes are known barriers to gene expression; the nature and relative importance of other transcriptional constraints remain unclear, especially at distant enhancers. Polycomb repressor complex 2 (PRC2) places the histone mark H3K27me3 predominantly at promoters, where its silencing activity is well documented. In adult tissues, enhancers lack H3K27me3, and it is unknown whether intergenic H3K27me3 deposits affect nearby genes. In primary intestinal villus cells, we identified hundreds of tissue-restricted enhancers that require the transcription factor (TF) CDX2 to prevent the incursion of H3K27me3 from adjoining areas of elevated basal marking into large well-demarcated genome domains...
December 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/29307790/under-the-mask-of-kabuki-syndrome-elucidation-of-genetic-and-phenotypic-heterogeneity-in-patients-with-kabuki-like-phenotype
#14
Jana Paderova, Jana Drabova, Andrea Holubova, Marketa Vlckova, Marketa Havlovicova, Andrea Gregorova, Radka Pourova, Vera Romankova, Veronika Moslerova, Jan Geryk, Patricia Norambuena, Veronika Krulisova, Anna Krepelova, Milan Macek, Milan Macek
Kabuki syndrome is mainly caused by dominant de-novo pathogenic variants in the KMT2D and KDM6A genes. The clinical features of this syndrome are highly variable, making the diagnosis of Kabuki-like phenotypes difficult, even for experienced clinical geneticists. Herein we present molecular genetic findings of causal genetic variation using array comparative genome hybridization and a Mendeliome analysis, utilizing targeted exome analysis focusing on regions harboring rare disease-causing variants in Kabuki-like patients which remained KMT2D/KDM6A-negative...
January 4, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29305415/histone-modifier-gene-mutations-in-peripheral-t-cell-lymphoma-not-otherwise-specified
#15
Meng-Meng Ji, Yao-Hui Huang, Jin-Yan Huang, Zhao-Fu Wang, Di Fu, Han Liu, Feng Liu, Christophe Leboeuf, Li Wang, Jing Ye, Yi-Ming Lu, Anne Janin, Shu Cheng, Wei-Li Zhao
Due to heterogeneous morphological and immunophenotypic features, approximately 50% of peripheral T-cell lymphomas are unclassifiable and categorized as peripheral T-cell lymphomas, not otherwise specified. These conditions have an aggressive course and poor clinical outcome. Identification of actionable biomarkers is urgently needed to develop better therapeutic strategies. Epigenetic alterations play a crucial role in tumor progression. Histone modifications, particularly methylation and acetylation, are generally involved in chromatin state regulation...
April 2018: Haematologica
https://www.readbyqxmd.com/read/29300383/genetic-analysis-of-charge-syndrome-identifies-overlapping-molecular-biology
#16
Amanda Moccia, Anshika Srivastava, Jennifer M Skidmore, John A Bernat, Marsha Wheeler, Jessica X Chong, Deborah Nickerson, Michael Bamshad, Margaret A Hefner, Donna M Martin, Stephanie L Bielas
PurposeCHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate-dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be found in 5-30% (depending on the cohort) of individuals with a clinical diagnosis of CHARGE syndrome...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29283410/clinical-and-neurobehavioral-features-of-three-novel-kabuki-syndrome-patients-with-mosaic-kmt2d-mutations-and-a-review-of-literature
#17
Francesca Romana Lepri, Dario Cocciadiferro, Bartolomeo Augello, Paolo Alfieri, Valentina Pes, Alessandra Vancini, Cristina Caciolo, Gabriella Maria Squeo, Natascia Malerba, Iolanda Adipietro, Antonio Novelli, Stefano Sotgiu, Renzo Gherardi, Maria Cristina Digilio, Bruno Dallapiccola, Giuseppe Merla
Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX , two interacting chromatin modifier responsible respectively for 56-75% and 5-8% of the cases. To date, three KS patients with mosaic KMT2D deletions in blood lymphocytes have been described. We report on three additional subjects displaying KMT2D gene mosaics including one in which a single nucleotide change results in a new frameshift mutation (p...
December 28, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29239295/kdm6a-overexpression-improves-the-development-of-cloned-mouse-embryos
#18
Guang-Yu Bai, Si-Hang Song, Yu-Wei Zhang, Xiang Huang, Xing-Wei Huang, Rui-Zhen Sun, Lei Lei
Somatic cell nuclear transfer (SCNT) is an important technique for life science research. However, most SCNT embryos fail to develop to term due to undefined reprogramming defects. Here, we show that abnormal Xi occurs in somatic cell NT blastocysts, whereas in female blastocysts derived from cumulus cell nuclear transfer, both X chromosomes were inactive. H3K27me3 removal by Kdm6a mRNA overexpression could significantly improve preimplantation development of NT embryos, and even reached a 70.2% blastocyst rate of cleaved embryos compared with the 38...
February 2018: Zygote: the Biology of Gametes and Early Embryos
https://www.readbyqxmd.com/read/29220567/structural-basis-of-histone-demethylase-kdm6b-histone-3-lysine-27-specificity
#19
Sarah E Jones, Lars Olsen, Michael Gajhede
KDM subfamily 6 enzymes KDM6A and KDM6B specifically catalyze demethylation of di- and trimethylated lysine on histone 3 lysine 27 (H3K27me3/2) and play an important role in repression of developmental genes. Despite identical amino acid sequence in the immediate surroundings of H3K9me3/2 (ARKS), the enzymes do not catalyze demethylation of this general marker of repression. To address this question for KDM6B, we used computational methods to identify H3(17-33)-derived peptides with improved binding affinity that would allow co-crystallization with the catalytic core of human KDM6B (ccKDM6B)...
February 6, 2018: Biochemistry
https://www.readbyqxmd.com/read/29171124/kdm6a-promotes-chondrogenic-differentiation-of-periodontal-ligament-stem-cells-by-demethylation-of-sox9
#20
Pingting Wang, Yanjing Li, Tingting Meng, Junjiang Zhang, Yuanyuan Wei, Zhaosong Meng, Yunfeng Lin, Dayong Liu, Lei Sui
OBJECTIVES: KDM6A has been demonstrated critical in the regulation of cell fates. However, whether KDM6A is involved in cartilage formation remains unclear. In this study, we investigated the role of KDM6A in chondrogenic differentiation of PDLSCs, as well as the underlying epigenetic mechanisms. METHODS: KDM6A shRNA was transfected into PDLSCs by lentivirus. The chondrogenic differentiation potential of PDLSCs was assessed by Alcian blue staining. Immunofluorescence was performed to demonstrate H3K27me3 and H3K4me3 levels during chondrogenesis...
November 23, 2017: Cell Proliferation
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