Detalhe da pesquisa
1.
Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling.
Int J Mol Sci
; 23(9)2022 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563538
2.
Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Genet Med
; 22(9): 1533-1541, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424176
3.
Severe Arterial Hypertension from Cullin 3 Mutations Is Caused by Both Renal and Vascular Effects.
J Am Soc Nephrol
; 30(5): 811-823, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30967423
4.
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
J Biol Chem
; 290(46): 27816-28, 2015 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26405036
5.
Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
Hum Mol Genet
; 22(10): 1940-8, 2013 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23376981
6.
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
N Engl J Med
; 364(23): 2218-26, 2011 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21651393
7.
[Assessment of AFP in amniotic fluid: comparison of three automated techniques]. / Dosage de l'AFP dans le liquide amniotique : comparaison de trois techniques automatisées.
Ann Biol Clin (Paris)
; 69(4): 441-6, 2011.
Artigo
em Francês
| MEDLINE | ID: mdl-21896409
8.
TREM-1 orchestrates angiotensin II-induced monocyte trafficking and promotes experimental abdominal aortic aneurysm.
J Clin Invest
; 131(2)2021 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33258804
9.
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.
Hum Mutat
; 31(4): 369-79, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358582
10.
Gain-of-function mutant of angiotensin II receptor, type 1A, causes hypertension and cardiovascular fibrosis in mice.
J Clin Invest
; 117(7): 1914-25, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17607364
11.
Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation.
Endocr Relat Cancer
; 27(4): 221-230, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32023208
12.
Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.
J Clin Invest
; 130(12): 6379-6394, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32790646
13.
Role of angiotensin II AT1 receptor activation in cardiovascular diseases.
Kidney Int
; 74(11): 1379-84, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18650793
14.
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
Eur J Endocrinol
; 157(1): 1-8, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17609395
15.
Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis.
J Bone Miner Res
; 32(2): 333-346, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27589370
16.
Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing.
Dig Liver Dis
; 49(1): 98-102, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27825921
17.
Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome.
JCI Insight
; 2(18)2017 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28931750
18.
DNA Methylation Is an Independent Prognostic Marker of Survival in Adrenocortical Cancer.
J Clin Endocrinol Metab
; 102(3): 923-932, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27967600
19.
Aldosterone-Producing Adenoma With a Somatic KCNJ5 Mutation Revealing APC-Dependent Familial Adenomatous Polyposis.
J Clin Endocrinol Metab
; 101(11): 3874-3878, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27648962
20.
Steroidogenesis in aldosterone-producing adenoma revisited by transcriptome analysis.
J Clin Endocrinol Metab
; 90(12): 6638-49, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16204365