147 related articles for article (PubMed ID: 33446056)
1. Thyrotropin Receptor p.N432D Retained Variant Is Degraded Through an Alternative Lysosomal/Autophagosomal Pathway and Can Be Functionally Rescued by Chemical Chaperones.
Grassi ES; Lábadi A; Vezzoli V; Ghiandai V; Bonomi M; Persani L
Thyroid; 2021 Jul; 31(7):1030-1040. PubMed ID: 33446056
[No Abstract] [Full Text] [Related]
2. Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron.
Sugisawa C; Ono M; Kashimada K; Hasegawa T; Narumi S
J Clin Endocrinol Metab; 2021 Jan; 106(1):e265-e272. PubMed ID: 33108452
[TBL] [Abstract][Full Text] [Related]
3. Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
De Marco G; Agretti P; Camilot M; Teofoli F; Tatò L; Vitti P; Pinchera A; Tonacchera M
Clin Endocrinol (Oxf); 2009 Feb; 70(2):335-8. PubMed ID: 18727713
[TBL] [Abstract][Full Text] [Related]
4. Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.
Cerqueira TL; Carré A; Chevrier L; Szinnai G; Tron E; Léger J; Cabrol S; Queinnec C; De Roux N; Castanet M; Polak M; Ramos HE
J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):777-84. PubMed ID: 25153578
[TBL] [Abstract][Full Text] [Related]
5. A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes.
Lado-Abeal J; Castro-Piedras I; Palos-Paz F; Labarta-Aizpún JI; Albero-Gamboa R
Thyroid; 2011 Feb; 21(2):103-9. PubMed ID: 21186955
[TBL] [Abstract][Full Text] [Related]
6. Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
Narumi S; Nagasaki K; Ishii T; Muroya K; Asakura Y; Adachi M; Hasegawa T
J Clin Endocrinol Metab; 2011 Aug; 96(8):E1340-5. PubMed ID: 21677043
[TBL] [Abstract][Full Text] [Related]
7. New pathogenic thyrotropin receptor mutations decipher differentiated activity switching at a conserved helix 6 motif of family A GPCR.
Biebermann H; Winkler F; Handke D; Teichmann A; Gerling B; Cameron F; Eichhorst J; Grüters A; Wiesner B; Kühnen P; Krude H; Kleinau G
J Clin Endocrinol Metab; 2012 Feb; 97(2):E228-32. PubMed ID: 22112806
[TBL] [Abstract][Full Text] [Related]
8. Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.
Lábadi Á; Grassi ES; Gellén B; Kleinau G; Biebermann H; Ruzsa B; Gelmini G; Rideg O; Miseta A; Kovács GL; Patócs A; Felszeghy E; Nagy EV; Mezősi E; Persani L
J Clin Endocrinol Metab; 2015 Jul; 100(7):E1039-45. PubMed ID: 25978107
[TBL] [Abstract][Full Text] [Related]
9. The Pathogenic TSH β-subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR.
Kalveram L; Kleinau G; Szymańska K; Scheerer P; Rivero-Müller A; Grüters-Kieslich A; Biebermann H
Int J Mol Sci; 2019 Nov; 20(22):. PubMed ID: 31703413
[TBL] [Abstract][Full Text] [Related]
10. Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance.
Calebiro D; de Filippis T; Lucchi S; Covino C; Panigone S; Beck-Peccoz P; Dunlap D; Persani L
Hum Mol Genet; 2005 Oct; 14(20):2991-3002. PubMed ID: 16135555
[TBL] [Abstract][Full Text] [Related]
11.
Zhang HY; Wu FY; Li XS; Tu PH; Zhang CX; Yang RM; Cui RJ; Wu CY; Fang Y; Yang L; Song HD; Zhao SX
Ann Lab Med; 2024 Jul; 44(4):343-353. PubMed ID: 38433572
[TBL] [Abstract][Full Text] [Related]
12. Substitutions of different regions of the third cytoplasmic loop of the thyrotropin (TSH) receptor have selective effects on constitutive, TSH-, and TSH receptor autoantibody-stimulated phosphoinositide and 3',5'-cyclic adenosine monophosphate signal generation.
Kosugi S; Okajima F; Ban T; Hidaka A; Shenker A; Kohn LD
Mol Endocrinol; 1993 Aug; 7(8):1009-20. PubMed ID: 7901757
[TBL] [Abstract][Full Text] [Related]
13. Proper targeting and activity of a nonfunctioning thyroid-stimulating hormone receptor (TSHr) combining an inactivating and activating TSHr mutation in one receptor.
Agretti P; De Marco G; Collecchi P; Chiovato L; Vitti P; Pinchera A; Tonacchera M
Eur J Biochem; 2003 Sep; 270(18):3839-47. PubMed ID: 12950268
[TBL] [Abstract][Full Text] [Related]
14. [Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism].
Yuan ZF; Luo YF; Wu YD; Shen Z; Zhao ZY
Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):508-12. PubMed ID: 17953807
[TBL] [Abstract][Full Text] [Related]
15. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.
Biebermann H; Schöneberg T; Krude H; Schultz G; Gudermann T; Grüters A
J Clin Endocrinol Metab; 1997 Oct; 82(10):3471-80. PubMed ID: 9329388
[TBL] [Abstract][Full Text] [Related]
16. An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.
Sura-Trueba S; Aumas C; Carre A; Durif S; Leger J; Polak M; de Roux N
Endocrinology; 2009 Feb; 150(2):1043-50. PubMed ID: 18927215
[TBL] [Abstract][Full Text] [Related]
17. Functional characterization of five constitutively activating thyrotrophin receptor mutations.
Wonerow P; Chey S; Führer D; Holzapfel HP; Paschke R
Clin Endocrinol (Oxf); 2000 Oct; 53(4):461-8. PubMed ID: 11012571
[TBL] [Abstract][Full Text] [Related]
18. Mutation screening of the TSHR gene in 220 Chinese patients with congenital hypothyroidism.
Fang Y; Sun F; Zhang RJ; Zhang CR; Yan CY; Zhou Z; Zhang QY; Li L; Ying YX; Zhao SX; Liang J; Song HD
Clin Chim Acta; 2019 Oct; 497():147-152. PubMed ID: 31356790
[TBL] [Abstract][Full Text] [Related]
19. Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
Fu C; Wang J; Luo S; Yang Q; Li Q; Zheng H; Hu X; Su J; Zhang S; Chen R; Luo J; Zhang Y; Shen Y; Wei H; Meng D; Gui B; Zeng Z; Fan X; Chen S
Clin Chim Acta; 2016 Nov; 462():127-132. PubMed ID: 27637299
[TBL] [Abstract][Full Text] [Related]
20. Small-molecule thyrotropin receptor agonist activates naturally occurring thyrotropin-insensitive mutants and reveals their distinct cyclic adenosine monophosphate signal persistence.
Allen MD; Neumann S; Gershengorn MC
Thyroid; 2011 Aug; 21(8):907-12. PubMed ID: 21745101
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]