A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes: A Case Report.

We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.

Age-related TFEB downregulation in proximal tubules causes systemic metabolic disorders and occasional apolipoprotein A4-related amyloidosis.

With the aging of society, the incidence of chronic kidney disease (CKD), a common cause of death, has been increasing. Transcription factor EB (TFEB), the master transcriptional regulator of the autophagy-lysosomal pathway, is regarded as a promising candidate for preventing various age-related diseases. However, whether TFEB in the proximal tubules plays a significant role in elderly CKD patients remains unknown.

Substitution of Glutamic Acid at Position 71 of DRβ1*04:01 Induces Collagen-Specific Tolerance Without Inducing Alloreactivity.

Objective: The DRB1 locus is strongly associated with both susceptibility and resistance to rheumatoid arthritis (RA). DRB1 alleles encoding the VKA or VRA epitope in positions 11, 71 and 74 confer the highest risk of developing RA, while the allele encoding VEA is protective. We therefore investigated the feasibility of creating antigen-specific tolerance without inducing alloreactivity by replacing lysine with glutamic acid at position 71 in DRβ1*04:01.

Long-term clinical outcomes after alcohol septal ablation for hypertrophic obstructive cardiomyopathy in Japan: a retrospective study.

Hypertrophic cardiomyopathy is characterized by significant left ventricular wall thickening, often leading to obstructive symptoms. Alcohol septal ablation (ASA) has emerged as an effective treatment for patients with hypertrophic obstructive cardiomyopathy (HOCM) who remain symptomatic despite maximal medical therapy. However, the detailed long-term effects of ASA in Japanese patients with HOCM remain unclear.