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ProteomicsInsights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model
Hermansky-Pudlak syndrome type 1 (HPS-1) is a rare, autosomal recessive disorder caused by defects in the biogenesis of lysosome-related organelles complex-3 (BLOC-3). Impaired kidney function is among its clinical manifestations. To investigate HPS-1 renal involvement, we employed 1D-gel-LC–MS/MS a...
ORGANISM(S): Homo sapiens (Human) 
2025-07-07 | PXD063765 | Pride
Proteomics Extracellular vesicles Renal pathology Hermansky-pudlak syndrome Tamm-horsfall protein 
UnknownDefining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Traditionally, the use of genomic information for personalized medical decisions relies on prior discovery and validation of genotype-phenotype associations. This approach constrains care for patients presenting with undescribed problems. The National Institutes of Health (NIH) Undiagnosed Diseases ...
S-EPMC5445140 | biostudies-literature
GenomicUndiagnosed Diseases Network (UDN)

The Undiagnosed Diseases Network (UDN) is an initiative to facilitate the diagnosis of conditions that have eluded diagnosis through the coordinated action of leading clinical and research centers. The purpose of this cooperative research network is to establish a national network added to and bu...

phs001232 | dbGaP
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