Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14424DOI Listing

Publication Analysis

Top Keywords

novel dkc1
4
dkc1 gene
4
gene mutation
4
mutation c1177
4
c1177 a>t
4
a>t pi393f
4
pi393f case
4
case dyskeratosis
4
dyskeratosis congenita
4
congenita severe
4

Similar Publications

Article Synopsis
  • Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive cancer with limited treatment options and a tendency to resist chemotherapy, emphasizing the need for new research in therapies.
  • The study focuses on G3BP2, a key component of stress granules (SGs) that is linked to cancer progression and chemotherapy resistance, revealing its elevated expression in PDAC is associated with poorer patient survival.
  • The researchers found that G3BP2 promotes PDAC chemotherapy resistance by stabilizing the mRNA of DKC1, which subsequently inhibits the expression of hENT, thereby suggesting that targeting G3BP2 could be a potential therapeutic strategy for PDAC.
View Article and Find Full Text PDF

ZCCHC8 p.P410A disrupts nucleocytoplasmic localization, promoting idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease.

Mol Med

September 2024

Department of Pulmonary and Critical Care Medicine, Research Unit of Respiratory Disease, Hunan Diagnosis and Treatment Center of Respiratory Disease, the Second Xiangya Hospital, Central South University, Changsha, 410011, China.

Background: Idiopathic pulmonary fibrosis (IPF) is a special kind of chronic interstitial lung disease with insidious onset. Previous studies have revealed that mutations in ZCCHC8 may lead to IPF. The aim of this study is to explore the ZCCHC8 mutations in Chinese IPF patients.

View Article and Find Full Text PDF

Background: H/ACA small nucleolar ribonucleoproteins (snoRNP) form a complex with multiple proteins to accomplish the pseudouridylation of rRNA. The assembly of H/ACA small nucleolar ribonucleoproteins (snoRNP) is initiated by H/ACA ribonucleoprotein Assembly factor, that is, SHQ1. Mutations in have been reported to cause two disorders namely, dystonia-35 childhood onset (OMIM*619921) and neurodevelopmental disorder with seizures and dystonia (OMIM*619922), both of which are inherited in an autosomal recessive manner.

View Article and Find Full Text PDF

Background: High-grade bladder cancer (HGBC) has a higher malignant potential, recurrence and progression rate compared to low-grade phenotype. Its early symptoms are often vague, making non-invasive diagnosis using urinary biomarkers a promising approach.

Methods: The gene expression data from urine samples of patients with HGBC was extracted from the GSE68020 dataset.

View Article and Find Full Text PDF

AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1.

Arab J Gastroenterol

August 2023

School of Basic Medicine, Youjiang Medical University for Nationalities, No. 98 Chengxiang Road, Youjiang District, Baise 533000, Guangxi, China.

Background And Study Aims: Previous studies have suggested that lncRNAs impact cancer progression. The lncRNA AC125611.3 (also referred to as RP11-161H23.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!