Ute Scholl
Ute Scholl
Patvirtintas el. paštas - Pagrindinis puslapis
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
M Choi, UI Scholl, W Ji, T Liu, IR Tikhonova, P Zumbo, A Nayir, ...
Proceedings of the National Academy of Sciences 106 (45), 19096-19101, 2009
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension
M Choi, UI Scholl, P Yue, P Björklund, B Zhao, C Nelson-Williams, W Ji, ...
Science 331 (6018), 768-772, 2011
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
UI Scholl, G Goh, G Stölting, RC de Oliveira, M Choi, JD Overton, ...
Nature genetics 45 (9), 1050-1054, 2013
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
UI Scholl, M Choi, T Liu, VT Ramaekers, MG Häusler, J Grimmer, ...
Proceedings of the National Academy of Sciences 106 (14), 5842-5847, 2009
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
UI Scholl, G Stölting, C Nelson-Williams, AA Vichot, M Choi, E Loring, ...
eLife 4, e06315, 2015
Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5
UI Scholl, C Nelson-Williams, P Yue, R Grekin, RJ Wyatt, MJ Dillon, ...
Proceedings of the National Academy of Sciences 109 (7), 2533-2538, 2012
CLCN2 chloride channel mutations in familial hyperaldosteronism type II
UI Scholl, G Stölting, J Schewe, A Thiel, H Tan, C Nelson-Williams, ...
Nature genetics 50 (3), 349-354, 2018
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors
G Goh, UI Scholl, JM Healy, M Choi, ML Prasad, C Nelson-Williams, ...
Nature genetics 46 (6), 613-617, 2014
Kidney physiology and susceptibility to acute kidney injury: implications for renoprotection
H Scholz, FJ Boivin, KM Schmidt-Ott, S Bachmann, KU Eckardt, UI Scholl, ...
Nature Reviews Nephrology 17 (5), 335-349, 2021
Diagnosis and treatment of primary aldosteronism
M Reincke, I Bancos, P Mulatero, UI Scholl, M Stowasser, TA Williams
The Lancet Diabetes & Endocrinology 9 (12), 876-892, 2021
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma
CC Juhlin, G Goh, JM Healy, AL Fonseca, UI Scholl, A Stenman, ...
The Journal of Clinical Endocrinology & Metabolism 100 (3), E493-E502, 2015
KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1)
C Zhang, L Wang, J Zhang, XT Su, DH Lin, UI Scholl, G Giebisch, ...
Proceedings of the National Academy of Sciences 111 (32), 11864-11869, 2014
Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype
UI Scholl, JM Healy, A Thiel, AL Fonseca, TC Brown, JW Kunstman, ...
Clinical Endocrinology 83 (6), 779-789, 2015
Barttin modulates trafficking and function of ClC-K channels
U Scholl, S Hebeisen, AGH Janssen, G Müller-Newen, A Alekov, ...
Proceedings of the National Academy of Sciences 103 (30), 11411-11416, 2006
Comprehensive DNA methylation analysis of benign and malignant adrenocortical tumors
AL Fonseca, J Kugelberg, LF Starker, U Scholl, M Choi, P Hellman, ...
Genes, Chromosomes and Cancer 51 (10), 949-960, 2012
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
HO Heyne, D Baez-Nieto, S Iqbal, DS Palmer, A Brunklaus, P May, ...
Science translational medicine 12 (556), eaay6848, 2020
Disease-causing dysfunctions of barttin in Bartter syndrome type IV
AGH Janssen, U Scholl, C Domeyer, D Nothmann, A Leinenweber, ...
Journal of the American Society of Nephrology 20 (1), 145-153, 2009
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome
S Riazuddin, S Anwar, M Fischer, ZM Ahmed, SY Khan, AGH Janssen, ...
The American Journal of Human Genetics 85 (2), 273-280, 2009
PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases
A Thiel, AC Reis, M Haase, G Goh, M Schott, HS Willenberg, UI Scholl
Eur J Endocrinol 172 (6), 677-685, 2015
Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma
UI Scholl, L Abriola, C Zhang, EN Reimer, M Plummer, BI Kazmierczak, ...
The Journal of Clinical Investigation 127 (7), 2017
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Straipsniai 1–20