Detalhe da pesquisa
1.
A naturally occurring membrane-anchored Gαs variant, XLαs, activates phospholipase Cß4.
J Biol Chem
; 298(8): 102134, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35709985
2.
Large G protein α-subunit XLαs limits clathrin-mediated endocytosis and regulates tissue iron levels in vivo.
Proc Natl Acad Sci U S A
; 114(45): E9559-E9568, 2017 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29078380
3.
GNAS Spectrum of Disorders.
Curr Osteoporos Rep
; 13(3): 146-58, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25851935
4.
Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.
Proc Natl Acad Sci U S A
; 109(17): 6638-43, 2012 Apr 24.
Artigo
Inglês
| MEDLINE | ID: mdl-22496590
5.
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Nat Genet
; 38(11): 1248-50, 2006 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17033625
6.
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
Nat Genet
; 37(1): 25-7, 2005 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-15592469
7.
GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.
JCI Insight
; 9(5)2024 Mar 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38290008
8.
Gα11 deficiency increases fibroblast growth factor 23 levels in a mouse model of familial hypocalciuric hypercalcemia.
JCI Insight
; 9(9)2024 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38530370
9.
Amyloid-ß neuropathology induces bone loss in male mice by suppressing bone formation and enhancing bone resorption.
Bone Rep
; 21: 101771, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38725879
10.
Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib.
Proc Natl Acad Sci U S A
; 107(20): 9275-80, 2010 May 18.
Artigo
Inglês
| MEDLINE | ID: mdl-20427744
11.
The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis.
J Clin Invest
; 133(8)2023 04 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36853809
12.
Venous thrombosis in a pseudohypoparathyroidism patient with a novel GNAS frameshift mutation and complete resolution of vascular calcifications with acetazolamide treatment.
Horm Res Paediatr
; 2023 Oct 31.
Artigo
Inglês
| MEDLINE | ID: mdl-37906994
13.
1,25-Dihydroxyvitamin D3 regulates furin-mediated FGF23 cleavage.
JCI Insight
; 8(17)2023 09 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37681408
14.
Extra-long Gαs variant XLαs protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling.
J Biol Chem
; 286(44): 38558-38569, 2011 Nov 04.
Artigo
Inglês
| MEDLINE | ID: mdl-21890629
15.
Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects.
J Clin Endocrinol Metab
; 107(3): e947-e954, 2022 02 17.
Artigo
Inglês
| MEDLINE | ID: mdl-34741517
16.
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
Hum Mutat
; 32(6): 653-60, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21488135
17.
Maternal GNAS Contributes to the Extra-Large G Protein α-Subunit (XLαs) Expression in a Cell Type-Specific Manner.
Front Genet
; 12: 680537, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34220953
18.
Extra-Large Gα Protein (XLαs) Deficiency Causes Severe Adenine-Induced Renal Injury with Massive FGF23 Elevation.
Endocrinology
; 161(1)2020 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31758181
19.
Secondary ossification center induces and protects growth plate structure.
Elife
; 92020 10 16.
Artigo
Inglês
| MEDLINE | ID: mdl-33063669
20.
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Horm Res Paediatr
; 93(3): 182-196, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32756064