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Items: 25

1.

Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels.

Stowasser M, Wolley M, Wu A, Gordon RD, Schewe J, Stölting G, Scholl UI.

Curr Hypertens Rep. 2019 Apr 4;21(4):31. doi: 10.1007/s11906-019-0934-y. Review.

PMID:
30949771
2.

USP8 Mutations in Pituitary Cushing Adenomas-Targeted Analysis by Next-Generation Sequencing.

Ballmann C, Thiel A, Korah HE, Reis AC, Saeger W, Stepanow S, Köhrer K, Reifenberger G, Knobbe-Thomsen CB, Knappe UJ, Scholl UI.

J Endocr Soc. 2018 Feb 19;2(3):266-278. doi: 10.1210/js.2017-00364. eCollection 2018 Mar 1.

3.

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

Scholl UI, Stölting G, Schewe J, Thiel A, Tan H, Nelson-Williams C, Vichot AA, Jin SC, Loring E, Untiet V, Yoo T, Choi J, Xu S, Wu A, Kirchner M, Mertins P, Rump LC, Onder AM, Gamble C, McKenney D, Lash RW, Jones DP, Chune G, Gagliardi P, Choi M, Gordon R, Stowasser M, Fahlke C, Lifton RP.

Nat Genet. 2018 Mar;50(3):349-354. doi: 10.1038/s41588-018-0048-5. Epub 2018 Feb 5.

4.

Unanswered Questions in the Genetic Basis of Primary Aldosteronism.

Scholl UI.

Horm Metab Res. 2017 Dec;49(12):963-968. doi: 10.1055/s-0043-120066. Epub 2017 Oct 24. Review.

PMID:
29065434
5.

Genetic mechanisms of human hypertension and their implications for blood pressure physiology.

Seidel E, Scholl UI.

Physiol Genomics. 2017 Nov 1;49(11):630-652. doi: 10.1152/physiolgenomics.00032.2017. Epub 2017 Sep 8. Review.

PMID:
28887369
6.

Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma.

Scholl UI, Abriola L, Zhang C, Reimer EN, Plummer M, Kazmierczak BI, Zhang J, Hoyer D, Merkel JS, Wang W, Lifton RP.

J Clin Invest. 2017 Jun 30;127(7):2739-2750. doi: 10.1172/JCI91733. Epub 2017 Jun 12.

7.

A novel FOXO1-mediated dedifferentiation blocking role for DKK3 in adrenocortical carcinogenesis.

Cheng JY, Brown TC, Murtha TD, Stenman A, Juhlin CC, Larsson C, Healy JM, Prasad ML, Knoefel WT, Krieg A, Scholl UI, Korah R, Carling T.

BMC Cancer. 2017 Mar 1;17(1):164. doi: 10.1186/s12885-017-3152-5.

8.

Intracellular Molecular Differences in Aldosterone- Compared to Cortisol-Secreting Adrenal Cortical Adenomas.

Seidel E, Scholl UI.

Front Endocrinol (Lausanne). 2016 Jun 27;7:75. doi: 10.3389/fendo.2016.00075. eCollection 2016. Review.

9.

CACNA1H(M1549V) Mutant Calcium Channel Causes Autonomous Aldosterone Production in HAC15 Cells and Is Inhibited by Mibefradil.

Reimer EN, Walenda G, Seidel E, Scholl UI.

Endocrinology. 2016 Aug;157(8):3016-22. doi: 10.1210/en.2016-1170. Epub 2016 Jun 3.

PMID:
27258646
10.

Pregnancy, Primary Aldosteronism, and Somatic CTNNB1 Mutations.

Murtha TD, Carling T, Scholl UI.

N Engl J Med. 2016 Apr 14;374(15):1492-3. doi: 10.1056/NEJMc1514508. No abstract available.

PMID:
27074081
11.

An Update on Familial Hyperaldosteronism.

Korah HE, Scholl UI.

Horm Metab Res. 2015 Dec;47(13):941-6. doi: 10.1055/s-0035-1564166. Epub 2015 Oct 7. Review.

PMID:
26445452
12.

Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype.

Scholl UI, Healy JM, Thiel A, Fonseca AL, Brown TC, Kunstman JW, Horne MJ, Dietrich D, Riemer J, Kücükköylü S, Reimer EN, Reis AC, Goh G, Kristiansen G, Mahajan A, Korah R, Lifton RP, Prasad ML, Carling T.

Clin Endocrinol (Oxf). 2015 Dec;83(6):779-89. doi: 10.1111/cen.12873. Epub 2015 Sep 23.

13.

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.

Scholl UI, Stölting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP.

Elife. 2015 Apr 24;4:e06315. doi: 10.7554/eLife.06315.

14.

Src-family protein tyrosine kinase phosphorylates WNK4 and modulates its inhibitory effect on KCNJ1 (ROMK).

Lin DH, Yue P, Yarborough O 3rd, Scholl UI, Giebisch G, Lifton RP, Rinehart J, Wang WH.

Proc Natl Acad Sci U S A. 2015 Apr 7;112(14):4495-500. doi: 10.1073/pnas.1503437112. Epub 2015 Mar 24.

15.

PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases.

Thiel A, Reis AC, Haase M, Goh G, Schott M, Willenberg HS, Scholl UI.

Eur J Endocrinol. 2015 Jun;172(6):677-85. doi: 10.1530/EJE-14-1113. Epub 2015 Mar 6.

PMID:
25750087
16.

Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

Juhlin CC, Goh G, Healy JM, Fonseca AL, Scholl UI, Stenman A, Kunstman JW, Brown TC, Overton JD, Mane SM, Nelson-Williams C, Bäckdahl M, Suttorp AC, Haase M, Choi M, Schlessinger J, Rimm DL, Höög A, Prasad ML, Korah R, Larsson C, Lifton RP, Carling T.

J Clin Endocrinol Metab. 2015 Mar;100(3):E493-502. doi: 10.1210/jc.2014-3282. Epub 2014 Dec 9.

17.

KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1).

Zhang C, Wang L, Zhang J, Su XT, Lin DH, Scholl UI, Giebisch G, Lifton RP, Wang WH.

Proc Natl Acad Sci U S A. 2014 Aug 12;111(32):11864-9. doi: 10.1073/pnas.1411705111. Epub 2014 Jul 28.

18.

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.

Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Akerström G, Björklund P, Carling T, Lifton RP.

Nat Genet. 2014 Jun;46(6):613-7. doi: 10.1038/ng.2956. Epub 2014 Apr 20. Erratum in: Nat Genet. 2014 Jul;46(7):759. Kuntsman, John W [corrected to Kunstman, John W].

19.

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Åkerström G, Björklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP.

Nat Genet. 2013 Sep;45(9):1050-4. doi: 10.1038/ng.2695. Epub 2013 Aug 4.

20.

New insights into aldosterone-producing adenomas and hereditary aldosteronism: mutations in the K+ channel KCNJ5.

Scholl UI, Lifton RP.

Curr Opin Nephrol Hypertens. 2013 Mar;22(2):141-7. doi: 10.1097/MNH.0b013e32835cecf8. Review.

PMID:
23318698
21.

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP.

Pediatr Nephrol. 2012 Nov;27(11):2081-2090. doi: 10.1007/s00467-012-2219-4. Epub 2012 Aug 21.

PMID:
22907601
22.

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

Scholl UI, Nelson-Williams C, Yue P, Grekin R, Wyatt RJ, Dillon MJ, Couch R, Hammer LK, Harley FL, Farhi A, Wang WH, Lifton RP.

Proc Natl Acad Sci U S A. 2012 Feb 14;109(7):2533-8. doi: 10.1073/pnas.1121407109. Epub 2012 Jan 30.

23.

K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.

Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, Westin G, Åkerström G, Wang W, Carling T, Lifton RP.

Science. 2011 Feb 11;331(6018):768-72. doi: 10.1126/science.1198785.

24.

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP.

Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27.

25.

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP.

Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5842-7. doi: 10.1073/pnas.0901749106. Epub 2009 Mar 16.

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