Computational prediction and experimental validation identify functionally conserved lncRNAs from zebrafish to human
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) …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
(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 …
Genetics, two groups independently report on the same small deletion in 11p15. 5 which …