155 related articles for article (PubMed ID: 25978107)
1. 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]
2. Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.
Calebiro D; Gelmini G; Cordella D; Bonomi M; Winkler F; Biebermann H; de Marco A; Marelli F; Libri DV; Antonica F; Vigone MC; Cappa M; Mian C; Sartorio A; Beck-Peccoz P; Radetti G; Weber G; Persani L
J Clin Endocrinol Metab; 2012 Jan; 97(1):E156-60. PubMed ID: 22049173
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).
Fricke-Otto S; Pfarr N; Mühlenberg R; Pohlenz J
Exp Clin Endocrinol Diabetes; 2005 Dec; 113(10):582-5. PubMed ID: 16320156
[TBL] [Abstract][Full Text] [Related]
5. TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.
Narumi S; Muroya K; Abe Y; Yasui M; Asakura Y; Adachi M; Hasegawa T
J Clin Endocrinol Metab; 2009 Apr; 94(4):1317-23. PubMed ID: 19158199
[TBL] [Abstract][Full Text] [Related]
6. 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]
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. 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]
9. 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]
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. Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.
Baş VN; Cangul H; Agladioglu SY; Kendall M; Cetinkaya S; Maher ER; Aycan Z
J Pediatr Endocrinol Metab; 2012; 25(11-12):1153-6. PubMed ID: 23329763
[TBL] [Abstract][Full Text] [Related]
12. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
Tenenbaum-Rakover Y; Almashanu S; Hess O; Admoni O; Hag-Dahood Mahameed A; Schwartz N; Allon-Shalev S; Bercovich D; Refetoff S
Thyroid; 2015 Mar; 25(3):292-9. PubMed ID: 25557138
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. [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]
17. A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.
Grasberger H; Van Sande J; Hag-Dahood Mahameed A; Tenenbaum-Rakover Y; Refetoff S
J Clin Endocrinol Metab; 2007 Jul; 92(7):2816-20. PubMed ID: 17456567
[TBL] [Abstract][Full Text] [Related]
18. The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
Ma SG; Fang PH; Hong B; Yu WN
J Pediatr Endocrinol Metab; 2010 Dec; 23(12):1339-44. PubMed ID: 21714469
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.
Alberti L; Proverbio MC; Costagliola S; Romoli R; Boldrighini B; Vigone MC; Weber G; Chiumello G; Beck-Peccoz P; Persani L
J Clin Endocrinol Metab; 2002 Jun; 87(6):2549-55. PubMed ID: 12050212
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
