Computational prediction and experimental validation identify functionally conserved lncRNAs from zebrafish to human

W Huang, T Xiong, Y Zhao, J Heng, G Han, P Wang… - Nature Genetics, 2024 - nature.com
Functional studies of long noncoding RNAs (lncRNAs) have been hindered by the lack of
methods to assess their evolution. Here we present lncRNA Homology Explorer (lncHOME) …

Long non-coding RNA KCNQ1OT1 alleviates postmenopausal osteoporosis by modulating miR-421-3p/mTOR axis

Z Wang, H Zhang, Q Li, L Zhang, L Chen, H Wang… - Scientific Reports, 2023 - nature.com
The prevention and treatment of postmenopausal osteoporosis (PMOP) is a significant
public health issue, and non-coding RNAs are of vital importance in this process. In this …

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

T Eggermann, J Brück, C Knopp, G Fekete… - Journal of Molecular …, 2020 - Springer
Molecular diagnostic testing of the 11p15. 5-associated imprinting disorders Silver-Russell
and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging due to the broad spectrum …

Imprinted lncRNA KCNQ1OT1 regulates CDKN1C expression through promoter binding and chromatin folding in pigs

Y Zhou, H Yu, D Zhang, Z Wang, Q Li, X An, S Zhang… - Gene, 2024 - Elsevier
Long noncoding RNAs (lncRNAs) are implicated in a number of regulatory functions in
eukaryotic genomes. In humans, KCNQ1OT1 is a 91 kb imprinted lncRNA that inhibits …

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

MV Gaudet, EP Allain, LM Gallant, HH Arts… - Journal of Medical …, 2023 - jmg.bmj.com
Background Imprinting centre 2 (IC2) in the chromosomal region 11p15. 5 regulates the
monoallelic expression of imprinted genes by differential methylation of paternal and …

[PDF][PDF] 罕见病Beckwith-Wiedemann 综合征1 例病例报告

李登峰, 陈名武, 方涛, 程舒鹏 - 中国循证儿科杂志, 2023 - cjebp.net
罕见病Beckwith⁃Wiedemann综合征1例病例报告 Page 1 基金项目中国科学技术大学附属第一
医院(安徽省立医院)创新项目:MAI2022C008;安徽省自然科学基金面上项目:1608085MH196 …

Maternal versus paternal inheritance of a 132 bp 11p15. 5 microdeletion affecting KCNQ1OT1 and associated phenotypes

UK Stoltze, TVO Hansen, JS Brok… - Journal of Medical …, 2023 - jmg.bmj.com
In this brief communication, we address the possible associations of a 132 bp deletion within
the antisense gene KCNQ1OT1 on 11p15. 5 to growth abnormalities. We question its …

A paternally inherited 1.4 kb deletion of the 11p15. 5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype

C Mio, L Allegri, N Passon, E Bregant… - European Journal of …, 2021 - nature.com
Abstract The Silver–Russell syndrome (SRS) is a rare disorder characterized by
heterogeneous clinical features, including growth retardation, typical facial dysmorphisms …

CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1: TSS-DMR

K Hara-Isono, K Yamazawa, S Tanaka… - Journal of Medical …, 2022 - jmg.bmj.com
Background Two imprinting control centres, H19/IGF2: IG-differentialy methylated region
(DMR) and KCNQ1OT1: TSS-DMR, reside on chromosome 11p15. 5. Paternal deletions …

Recurrent small deletions in KCNQ1OT1: a challenge for pathogenicity prediction

T Eggermann - Journal of Medical Genetics, 2023 - jmg.bmj.com
In the articles linked to this commentary and also published by the Journal of Medical
Genetics, two groups independently report on the same small deletion in 11p15. 5 which …