Detalhe da pesquisa
1.
Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström Syndrome cardiomyopathy.
Dis Model Mech;
2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38756069
2.
Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome.
Mol Metab;
84: 101933, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38583571
3.
Author Correction: Genotype-stratified treatment for monogenic insulin resistance: a systematic review.
Commun Med (Lond);
4(1): 57, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38532029
4.
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
J Invest Dermatol;
144(4): 811-819.e4, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802293
5.
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
J Invest Dermatol;
144(4): 820-832.e9, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802294
6.
Paradoxical dominant negative activity of an immunodeficiency-associated activating PIK3R1 variant.
bioRxiv;
2023 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38077044
7.
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Orphanet J Rare Dis;
18(1): 360, 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974153
8.
Mesenchymal-specific Alms1 knockout in mice recapitulates key metabolic features of Alström Syndrome.
bioRxiv;
2023 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873427
9.
Genotype-stratified treatment for monogenic insulin resistance: a systematic review.
Commun Med (Lond);
3(1): 134, 2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794082
10.
Resolution of dysglycaemia after treatment of monoclonal gammopathy of endocrine significance.
Eur J Endocrinol;
189(6): K25-K29, 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37818852
11.
Case report: Allogeneic stem cell transplantation for type B insulin resistance.
Front Med (Lausanne);
10: 1200037, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37706022
12.
The serotonin transporter sustains human brown adipose tissue thermogenesis.
Nat Metab;
5(8): 1319-1336, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37537371
13.
Diagnosis and treatment of anti-insulin antibody-mediated labile glycaemia in insulin-treated diabetes.
Diabet Med;
40(11): e15194, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562398
14.
Systematic review of genotype-stratified treatment for monogenic insulin resistance.
medRxiv;
2023 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205502
15.
A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion.
Elife;
122023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36722855
16.
p53 Regulates Mitochondrial Dynamics in Vascular Smooth Muscle Cell Calcification.
Int J Mol Sci;
24(2)2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675156
17.
Insulin Resistance and Adrenal Androgen Synthesis Viewed Through a Monogenic Lens.
J Clin Endocrinol Metab;
107(11): e4326-e4327, 2022 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35961312
18.
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.
J Clin Lipidol;
16(5): 583-590, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35780059
19.
Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes.
Diabetologia;
65(11): 1782-1795, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35618782
20.
PIK3CA-related overgrowth: silver bullets from the cancer arsenal?
Trends Mol Med;
28(4): 255-257, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35272946