Cargando…

A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype

BACKGROUND: Imprinting centre 2 (IC2) in the chromosomal region 11p15.5 regulates the monoallelic expression of imprinted genes by differential methylation of paternal and maternal chromosomes. Copy number variants in IC2 are associated with Beckwith-Wiedemann syndrome and Silver-Russell syndrome (S...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gaudet, Marie Véronique, Allain, Eric Pierre, Gallant, Lynne M, Arts, Heleen H, Ben Amor, Mouna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2023
Materias:	Epigenetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887386/ https://www.ncbi.nlm.nih.gov/pubmed/35772847 http://dx.doi.org/10.1136/jmedgenet-2021-108288

Ejemplares similares

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
por: Stoltze, Ulrik Kristoffer, et al.
Publicado: (2023)

Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome
por: Higashimoto, Ken, et al.
Publicado: (2021)

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum
por: Passaretti, Francesco, et al.
Publicado: (2022)

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases
por: Chiesa, Nicoletta, et al.
Publicado: (2012)

KCNQ1OT1 polymorphism rs35622507 and methylation status of KCNQ1OT1 promoter influence the drug resistance to L-OHP
por: Zhang, Caihong, et al.
Publicado: (2022)

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
por: Inoue, Takanobu, et al.
Publicado: (2019)

KCNQ1OT1 promotes melanoma growth and metastasis
por: Guo, Bingyu, et al.
Publicado: (2018)

KCNQ1OT1: An Oncogenic Long Noncoding RNA
por: Cagle, Patrice, et al.
Publicado: (2021)

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
por: Yamazawa, Kazuki, et al.
Publicado: (2021)

Regulation of functional KCNQ1OT1 lncRNA by β-catenin
por: Sunamura, Naohiro, et al.
Publicado: (2016)

DNA Methylation of Imprinted Genes KCNQ1, KCNQ1OT1, and PHLDA2 in Peripheral Blood Is Associated with the Risk of Breast Cancer
por: Fu, Jinming, et al.
Publicado: (2022)

Knockdown of KCNQ1OT1 Suppresses Cell Invasion and Sensitizes Osteosarcoma Cells to CDDP by Upregulating DNMT1-Mediated Kcnq1 Expression
por: Qi, Xu, et al.
Publicado: (2019)

LncRNA KCNQ1OT1: Molecular mechanisms and pathogenic roles in human diseases
por: Xia, Fangqi, et al.
Publicado: (2021)

Silencing of KCNQ1OT1 Decreases Oxidative Stress and Pyroptosis of Renal Tubular Epithelial Cells
por: Zhu, Bei, et al.
Publicado: (2020)

Regulation of Long Non-coding RNA KCNQ1OT1 Network in Colorectal Cancer Immunity
por: Liu, Junjie, et al.
Publicado: (2021)

The Kcnq1ot1 Long Non-Coding RNA Affects Chromatin Conformation and Expression of Kcnq1, but Does Not Regulate Its Imprinting in the Developing Heart
por: Korostowski, Lisa, et al.
Publicado: (2012)

Retraction Notice to: Knockdown of KCNQ1OT1 Suppresses Cell Invasion and Sensitizes Osteosarcoma Cells to CDDP by Upregulating DNMT1-Mediated Kcnq1 Expression
por: Qi, Xu, et al.
Publicado: (2022)

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases
por: Bedeschi, Maria Francesca, et al.
Publicado: (2017)

Silencing long non-coding RNA Kcnq1ot1 alleviates pyroptosis and fibrosis in diabetic cardiomyopathy
por: Yang, Fan, et al.
Publicado: (2018)

LncRNA KCNQ1OT1 predicts further cerebral events in patients with transient ischemic attack
por: Yu, Shijia, et al.
Publicado: (2022)

Silver: Russell Syndrome with Cryptorchidism
por: Reddy, H Babul, et al.
Publicado: (2013)

PNN and KCNQ1OT1 Can Predict the Efficacy of Adjuvant Fluoropyrimidine-Based Chemotherapy in Colorectal Cancer Patients
por: Lapucci, Andrea, et al.
Publicado: (2021)

KCNQ1OT1 accelerates gastric cancer progression via miR-4319/DRAM2 axis
por: Wang, Jijun, et al.
Publicado: (2020)

Upregulation and the clinical significance of KCNQ1OT1 and HAGLROS lncRNAs in papillary thyroid cancer: An observational study
por: Mutlu Icduygu, Fadime, et al.
Publicado: (2023)

Association study between KCNQ1 and KCNQ1OT1 genetic polymorphisms and gastric cancer susceptibility and survival in a Chinese Han population: a case-control study
por: Yang, Zhenyu, et al.
Publicado: (2021)

Conservation of Repeats at the Mammalian KCNQ1OT1-CDKN1C Region Suggests a Role in Genomic Imprinting
por: De Donato, Marcos, et al.
Publicado: (2017)

Clinical spectrum of Silver - Russell syndrome
por: Varma, Sapna N.K., et al.
Publicado: (2013)

Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith–Wiedemann syndrome as a sporadic adrenocortical tumor
por: H'mida Ben-Brahim, Dorra, et al.
Publicado: (2014)

LncRNA KCNQ1OT1 promotes osteogenic differentiation to relieve osteolysis via Wnt/β-catenin activation
por: Gao, Xuren, et al.
Publicado: (2018)

Nucleoporin 107, 62 and 153 mediate Kcnq1ot1 imprinted domain regulation in extraembryonic endoderm stem cells
por: Sachani, Saqib S., et al.
Publicado: (2018)

Long noncoding RNA KCNQ1OT1 promotes colorectal carcinogenesis by enhancing aerobic glycolysis via hexokinase-2
por: Chen, Cheng, et al.
Publicado: (2020)

Knockdown of KCNQ1OT1 attenuates cardiac hypertrophy through modulation of the miR-2054/AKT3 axis
por: Chen, Yiwei, et al.
Publicado: (2020)

Retraction: Long non-coding RNA KCNQ1OT1 promotes osteosarcoma progression by increasing β-catenin activity
por: Fisher, Laura
Publicado: (2021)

lncRNA KCNQ1OT1 Promotes EMT, Angiogenesis, and Stemness of Pituitary Adenoma by Upregulation of RAB11A
por: Li, Zuowei, et al.
Publicado: (2022)

Enhancers compete with a long non-coding RNA for regulation of the Kcnq1 domain
por: Schultz, Bryant M., et al.
Publicado: (2015)

lncRNA KCNQ1OT1 promotes proliferation and invasion of glioma cells by targeting the miR-375/YAP pathway
por: Ding, Panfeng, et al.
Publicado: (2020)

KCNQ1OT1 promotes ovarian cancer progression via modulating MIR‐142‐5p/CAPN10 axis
por: Liu, Hongli, et al.
Publicado: (2020)

RETRACTION NOTICE: KCNQ1OT1 accelerates gastric cancer progression via miR-4319/DRAM2 axis
Publicado: (2021)

Retracted Article: Long non-coding RNA KCNQ1OT1 promotes osteosarcoma progression by increasing β-catenin activity
por: Zhang, Changsheng, et al.
Publicado: (2018)

LncRNA KCNQ1OT1 promotes the metastasis of ovarian cancer by increasing the methylation of EIF2B5 promoter
por: He, Si-Li, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_4hgssm9u9adrad3gke0f3ov79p