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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Am J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
View Article and Find Full Text PDFFavourable Living Donor Kidney Transplantation Outcomes within a National Kidney Exchange Program: A Propensity Score Matching Analysis.
Clin J Am Soc Nephrol
January 2025
Erasmus MC Transplant Institute, Department of Surgery, Division of HPB & Transplant Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands.
Background: KEPs (kidney exchange programs) facilitate living donor kidney transplantations (LDKT) for patients with incompatible donors, who are typically higher risk than non-KEP patients because of higher sensitization and longer dialysis vintage. We conducted a comparative analysis of graft outcomes and risk factors for both KEP and non-KEP living donor kidney transplants.
Methods: All LDKTs performed in the Netherlands between 2004-2021 were included.
Targeted modulation of intestinal barrier and mucosal immune-related microbiota attenuates IgA nephropathy progression.
Gut Microbes
December 2025
State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai, China.
IgA nephropathy (IgAN) is related to the balance of gut microbiota. However, it is unclear whether changes in the gut microbiota can cause IgAN or attenuate its progression. This study employed IgAN and human microbiota-associated (HMA)-IgAN models to investigate the impact of IgAN on gut microbiota alteration and the mechanisms by which gut microbiota might trigger IgAN.
View Article and Find Full Text PDFFirst real-world evidence of sparsentan efficacy in patients with IgA nephropathy treated with SGLT2 inhibitors.
Clin Kidney J
January 2025
Department of General Internal Medicine and Nephrology, Robert Bosch Hospital Stuttgart, Stuttgart, Germany.
Background: Sparsentan, a dual-acting antagonist for both the angiotensin II receptor type 1 and the endothelin receptor type A, has emerged as a promising therapeutic agent for the treatment of IgA nephropathy (IgAN). Following the publication of the PROTECT trial, sparsentan recently received approval for the treatment of IgAN in Europe. However, it remains uncertain whether an additive effect can be observed in the context of existing treatment with sodium-glucose co-transporter 2 (SGLT2) inhibitors, given that the PROTECT study did not investigate this dual therapy approach.
View Article and Find Full Text PDFFibrillary Glomerulonephritis with Prevalent IgA Deposition Associated with Psoriasis.
Indian J Nephrol
August 2023
Department of Nephrology, Zydus Hospital, Ahmedabad, Gujarat, India.
Fibrillary and immunotactoid glomerulonephritis represent the pathological entities characterized by structured fibrillary/microtubular deposits, whose identification is possible only by electron microscopy. We report a 46-year-old female who presented with proteinuria 15 years after the onset of psoriasis. Diffuse global glomerulosclerosis pattern was noted on light microscopy.
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