Results 61 to 70 of about 2,901 (167)
Advanced Science, Volume 12, Issue 35, September 18, 2025.This study develops a nested resampling machine learning framework to establish the Immune Glioma Survival Signature (IGLoS), which stratifies glioma patients and predicts immunotherapy resistance. Multi‐omics analyses reveal TRAF3IP3 as a pivotal regulator of PD‐L1 expression and T‐cell exhaustion via ERK‐NFATC2 signaling.
Yanbo Yang +15 more
wiley +1 more source
Emerging roles and mechanisms of miR-206 in human disorders: a comprehensive review
Cancer Cell International, 2022 As a member of the miR-1 family, miR-206 is located between IL-17 and PKHD1 genes in human. This miRNA has been shown to be involved in the pathogenic processes in a variety of human disorders including cancers, amyotrophic lateral sclerosis, Alzheimer’s
Sheyda Khalilian +2 more
doaj +1 more source
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
PLoS ONE, 2023 Background and aimGene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis.Patients and methodsBoth paediatric (n = 33) and adult (
Magdaléna Neřoldová +23 more
doaj +1 more source
A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13
Clinical Case Reports, Volume 13, Issue 9, September 2025.Multiple T2‐weighted high‐signal‐intensity structures were observed in both kidneys accompanied by bilateral renal enlargement in a male neonate with trisomy 13. ABSTRACT Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD).
Fumiko Yamabe +4 more
wiley +1 more source
Genomics Data, 2016 A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing.
Burhan M. Edrees +13 more
doaj +1 more source
Livers, 2023 Congenital hepatic fibrosis/Autosomal recessive polycystic kidney disease (CHF/ARPKD) is an inherited neonatal disease induced by mutations in the PKHD1 gene and characterized by cysts and robust pericystic fibrosis in the liver and kidneys.
Satyajeet Khare +4 more
doaj +1 more source
Clinicopathological features and genetic variations in patients with polycystic liver disease [PDF]
精准医学杂志Objective To investigate the clinicopathological features and gene mutation characteristics of patients with polycystic liver disease (PLD). Methods A retrospective analysis was performed for the clinical data of 12 PLD patients who attended Department ...
ZHOU Xueyan, WANG Ye, XING Rui, LI Yixian, HAN Xinyi, ZHAO Peng
doaj +1 more source
Frontiers in Pharmacology, 2022 Kidney renal papillary cell carcinoma (KIRP) has a high mortality rate and a poor prognosis. Cu concentrations differed significantly between renal cancer tissues and adjacent normal tissues. Cuproptosis is a newly identified cell death.
Tongjin Xie +7 more
doaj +1 more source
Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease [PDF]
, 2021 Jiaru Wang +4 more
openalex +1 more source
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study
Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1263-1273, July 2025.Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba +5 more
wiley +1 more source