Nephron-specific deletion of ALMS1 (Alstrom syndrome 1) increases surface NKCC2 expression and NaCl reabsorption in the Thick Ascending Limb
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DOI: 10.1152/physiol.2023.38.s1.5731922
Abstract: Mutations in the ALMS1 gene in humans cause Alström syndrome, characterized by progressive metabolic alterations that include obesity, hypertension, and chronic kidney disease (CKD). SNPs in the ALMS1 gene in the general population are associated… read more here.
Keywords: deletion; pax8 alms1; expression; physiology ... See more keywords
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells
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DOI: 10.1371/journal.pone.0170694
Abstract: The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms. ALMS1 mutations… read more here.
Keywords: hodgkin lymphoma; alstrom syndrome; lymphoma cells; transcript variants ... See more keywords