Results 161 to 170 of about 82,474 (317)
Journal of Veterinary Internal Medicine, Volume 39, Issue 4, July/August 2025.ABSTRACT Background The protein apoptosis inhibitor of macrophages (AIM) is involved in kidney repair. An AIM (fAIM) genetic variant in cats resulting in a domain duplication might abrogate fAIM's protective effect on kidney function. Objectives To confirm that the domain duplication previously described in fAIM results from an exon duplication at the ...
Gabriela C. L. Evangelista +6 more
wiley +1 more source
Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications
Advanced Science, Volume 12, Issue 21, June 5, 2025.HDAC6 regulates primary cilia, crucial for cellular signalling and environmental responses. Dysregulation of HDAC6 contributes to ciliopathies, affecting multiple organs. This review examines HDAC6's role in ciliogenesis, its interaction with signaling molecules, and its potential as a therapeutic target.
Zhiyi Wang +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
1630 THE NATURAL HISTORY OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN CHILDREN [PDF]
, 1985 Aileen B. Sedman +4 more
openalex +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis +16 more
wiley +1 more source
Clinical Case Reports, Volume 13, Issue 6, June 2025.ABSTRACT Polycystic liver disease is a hereditary disease, which is characterized by the presence of multiple cysts within the liver. In this case, we report a patient with multiple cysts in the kidneys and liver, who underwent kidney transplantation in 2019 and then liver transplantation 4 years later.
Chengjun Sun +4 more
wiley +1 more source
Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). [PDF]
, 1990 M.H. Breuning +9 more
openalex +1 more source
A Rare Diagnosis of Caroli Syndrome in a Young Patient
Clinical Case Reports, Volume 13, Issue 6, June 2025.ABSTRACT Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis.
Elaheh Karimzadeh‐Soureshjani +4 more
wiley +1 more source