Elena Hantmann - Publications

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease.

Journal: Kidney international reports

Published: November 01, 2024

Deceased donor urinary Dickkopf-3 associates with future allograft function following kidney transplantation.

Journal: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons

Published: April 08, 2024

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

Journal: American journal of human genetics

Published: December 16, 2022

Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery.

Journal: Scientific reports

Published: May 14, 2022

Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: March 15, 2022

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.

Journal: JHEP reports : innovation in hepatology

Published: March 08, 2022

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia.

Journal: Clinical kidney journal

Published: December 03, 2021

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

Journal: Kidney international

Published: February 24, 2021

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.

Journal: Kidney international

Published: July 24, 2019