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Items: 25

1.

Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase.

Gutierrez-Nogués A, García-Herrero CM, Oriola J, Vincent O, Navas MA.

Biochim Biophys Acta Mol Basis Dis. 2018 Jul;1864(7):2385-2394. doi: 10.1016/j.bbadis.2018.04.020. Epub 2018 Apr 26.

2.

Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.

Martínez R, Gutierrez-Nogués Á, Fernández-Ramos C, Velayos T, Vela A; Spanish Congenital Hyperinsulinism Group, Navas MÁ, Castaño L.

Clin Endocrinol (Oxf). 2017 Jun;86(6):778-783. doi: 10.1111/cen.13318. Epub 2017 Mar 27.

PMID:
28247534
3.

Usefulness of speckle myocardial imaging modalities for differential diagnosis of left ventricular non-compaction of the myocardium.

Cortés M, Oliva MR, Orejas M, Navas MA, Rábago RM, Martínez ME, Taibo M, Palfy J, Rey M, Farré J.

Int J Cardiol. 2016 Nov 15;223:813-818. doi: 10.1016/j.ijcard.2016.08.278. Epub 2016 Aug 17.

PMID:
27575783
4.

Comparison of pharmacological treatment alone versus treatment combined with cardiac resynchronization therapy in patients over 75 years.

de la Cruz E, Cortés M, Farré J, Palfy J, Ávila P, Hernández I, Romero A, Benezet J, Franco JA, Navas MA, Hernandez JJ, Briongos S, Rubio JM.

J Interv Card Electrophysiol. 2015 Jun;43(1):13-20. doi: 10.1007/s10840-015-9979-2. Epub 2015 Feb 17.

PMID:
25687979
5.

Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinase.

Oriola J, Moreno F, Gutiérrez-Nogués A, León S, García-Herrero CM, Vincent O, Navas MA.

JIMD Rep. 2015;20:21-6. doi: 10.1007/8904_2014_383. Epub 2015 Feb 10.

6.

Pure right ventricular infarction resulting from coronary ectasia: importance of diagnostic imaging.

Palfy JA, Tomás M, Farré J, Navas MA, Navarro F, Orejas M, Franco A.

Can J Cardiol. 2014 Apr;30(4):464.e9-11. doi: 10.1016/j.cjca.2013.12.018. Epub 2013 Dec 30.

PMID:
24680175
7.

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.

Capuano M, Garcia-Herrero CM, Tinto N, Carluccio C, Capobianco V, Coto I, Cola A, Iafusco D, Franzese A, Zagari A, Navas MA, Sacchetti L.

PLoS One. 2012;7(6):e38906. doi: 10.1371/journal.pone.0038906. Epub 2012 Jun 20.

8.

Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing.

García-Herrero CM, Rubio-Cabezas O, Azriel S, Gutierrez-Nogués A, Aragonés A, Vincent O, Campos-Barros A, Argente J, Navas MA.

PLoS One. 2012;7(1):e30518. doi: 10.1371/journal.pone.0030518. Epub 2012 Jan 24.

9.

Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation.

Galán M, García-Herrero CM, Azriel S, Gargallo M, Durán M, Gorgojo JJ, Andía VM, Navas MA.

Mol Med. 2011 Mar-Apr;17(3-4):256-65. doi: 10.2119/molmed.2010.00097. Epub 2010 Dec 15.

10.

[The presence of childhood obesity may mask the diagnosis of monogenic diabetes].

Rado Peralta S, Galán M, Navas MÁ, Soriano Guillén L.

Med Clin (Barc). 2010 Nov 20;135(15):720-2. doi: 10.1016/j.medcli.2009.09.024. Epub 2009 Nov 25. Spanish. No abstract available.

PMID:
19939416
11.

Leptin but not neuropeptide Y up-regulated glucagon-like peptide 1 receptor expression in GT1-7 cells and rat hypothalamic slices.

Sanz C, Vázquez P, Navas MA, Alvarez E, Blázquez E.

Metabolism. 2008 Jan;57(1):40-8.

PMID:
18078857
12.

Effects of glucose and insulin on glucokinase activity in rat hypothalamus.

Sanz C, Roncero I, Vázquez P, Navas MA, Blázquez E.

J Endocrinol. 2007 May;193(2):259-67.

PMID:
17470517
13.

Gene symbol: GCK. Disease: diabetes, MODY.

Navas MA, Galan M, Vincent O, Roncero I, Azriel S, Boix-Pallares P, Delgado-Alvarez E, Diaz-Cadórniga F, Blázquez E.

Hum Genet. 2006 Apr;119(3):363. No abstract available.

PMID:
17230658
14.

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.

García-Herrero CM, Galán M, Vincent O, Flández B, Gargallo M, Delgado-Alvarez E, Blázquez E, Navas MA.

Diabetologia. 2007 Feb;50(2):325-33. Epub 2006 Dec 21.

PMID:
17186219
15.

Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability.

Galán M, Vincent O, Roncero I, Azriel S, Boix-Pallares P, Delgado-Alvarez E, Díaz-Cadórniga F, Blázquez E, Navas MA.

Biochem J. 2006 Jan 1;393(Pt 1):389-96.

16.

The human HNF-3 genes: cloning, partial sequence and mutation screening in patients with impaired glucose homeostasis.

Navas MA, Vaisse C, Boger S, Heimesaat M, Kollee LA, Stoffel M.

Hum Hered. 2000 Nov-Dec;50(6):370-81.

PMID:
10899756
17.

Impaired glucose homeostasis and neonatal mortality in hepatocyte nuclear factor 3alpha-deficient mice.

Shih DQ, Navas MA, Kuwajima S, Duncan SA, Stoffel M.

Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10152-7.

18.

Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).

Navas MA, Munoz-Elias EJ, Kim J, Shih D, Stoffel M.

Diabetes. 1999 Jul;48(7):1459-65.

PMID:
10389854
19.

Regulation of a transcription factor network required for differentiation and metabolism.

Duncan SA, Navas MA, Dufort D, Rossant J, Stoffel M.

Science. 1998 Jul 31;281(5377):692-5.

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Two forms of factor C from the amoebocytes of Carcinoscorpius rotundicauda: purification and characterisation.

Ding JL, Navas MA 3rd, Ho B.

Biochim Biophys Acta. 1993 Sep 3;1202(1):149-56.

PMID:
8373818
24.

Futile cycles in Saccharomyces cerevisiae strains expressing the gluconeogenic enzymes during growth on glucose.

Navas MA, Cerdán S, Gancedo JM.

Proc Natl Acad Sci U S A. 1993 Feb 15;90(4):1290-4.

25.

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