Nephronophthisis Latest Advances
Find the Latest Research About Nephronophthisis
Last Updated: 06/30/2026
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Found 428 publications
A Rare Genetic Association of an NPHP2 Mutation With Nephronophthisis in a Child With Bombay Blood Group.
Journal: Journal of medical cases
Published: February 14, 2026
Biallelic NPHP3 Variants Causing Late Onset Chronic Kidney Insufficiency in Nephronophthisis: A Case Report.
Journal: Nephrology (Carlton, Vic.)
Published: February 08, 2026
Response to the Letter to the Editor Entitled "From Variant of Unknown Significance to Likely Pathogenic: Adult-Onset - Nephronophthisis Linked to NPHP4 p.T680M".
Journal: Kidney international reports
Published: October 01, 2025
From Variant of Uncertain Significance to Likely Pathogenic: Adult-Onset Nephronophthisis Linked to NPHP4 p.T680M.
Journal: Kidney international reports
Published: September 24, 2025
Molecular mechanisms of TTC21B gene mutations in nephronophthisis type 12 and genetic prevention through PGT.
Journal: Frontiers in genetics
Published: September 22, 2025
The nephronophthisis protein GLIS2/NPHP7 is required for the DNA damage response in kidney tubular epithelial cells.
Journal: American journal of physiology. Renal physiology
Published: July 25, 2025
Targeting GLP-1 Signaling Ameliorates Cystogenesis in a Zebrafish Model of Nephronophthisis.
Journal: International journal of molecular sciences
Published: June 24, 2025
INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report.
Journal: Kidney medicine
Published: June 06, 2025
iPSC-based drug discovery identified the Hippo signaling pathway as a therapeutic target in the fibrosis of NPHP1-deficient nephronophthisis.
Journal: Stem cell research & therapy
Published: June 04, 2025
Last Updated: 06/30/2026