Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model

FinnGen; Kristiina Makkonen; Meeri Jännäri; Luis Crisostomo; Matilda Kuusi; Konrad Patyra; Vladyslav Melnyk; Veli Linnossuo; Johanna Ojala; Rowmika Ravi; Christoffer Lof; Juho-Antti Mäkelä; Päivi Miettinen; Saila Laakso; Marja Ojaniemi; Jarmo Jääskeläinen; Markku Laakso; Filip Bossowski; Beata Sawicka; Karolina Stozek; Artur Bossowski; Gunnar Kleinau; Patrick Scheerer; Mary Pat Reeve; Jukka Kero

doi:10.1172/jci.insight.167092

Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model

FinnGen, Kristiina Makkonen, Meeri Jännäri, Luis Crisostomo, Matilda Kuusi, Konrad Patyra, Vladyslav Melnyk, Veli Linnossuo, Johanna Ojala, Rowmika Ravi, Christoffer Lof, Juho-Antti Mäkelä, Päivi Miettinen, Saila Laakso, Marja Ojaniemi, Jarmo Jääskeläinen, Markku Laakso, Filip Bossowski, Beata Sawicka, Karolina StozekArtur Bossowski, Gunnar Kleinau, Patrick Scheerer, Mary Pat Reeve, Jukka Kero

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Artikelnummer	e167092
Tidskrift	JCI INSIGHT
Volym	9
Nummer	4
Antal sidor	22
ISSN	2379-3708
DOI	https://doi.org/10.1172/jci.insight.167092
Status	Publicerad - 9 jan. 2024
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
1184 Genetik, utvecklingsbiologi, fysiologi

Åtkomst av dokument

10.1172/jci.insight.167092

167092.2-20240222091541-covered-e0fd13ba177f913fd3156f593ead4cfdSlutlig publicerad version, 20,3 MBLicens: CC BY

Citera det här

FinnGen, Makkonen, K., Jännäri, M., Crisostomo, L., Kuusi, M., Patyra, K., Melnyk, V., Linnossuo, V., Ojala, J., Ravi, R., Lof, C., Mäkelä, J.-A., Miettinen, P., Laakso, S., Ojaniemi, M., Jääskeläinen, J., Laakso, M., Bossowski, F., Sawicka, B., ... Kero, J. (2024). Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model. JCI INSIGHT, 9(4), Artikel e167092. https://doi.org/10.1172/jci.insight.167092

@article{e8e6818b0bb34d37a64b50b261d6ed56,

title = "Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model",

keywords = "Thyroid-stimulating hormone, Tsh-receptor, Somatic mutations, In-vivo, Identification, Polymorphism, Activation, Resistance, Domain, Specificity, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "FinnGen and Kristiina Makkonen and Meeri J{\"a}nn{\"a}ri and Luis Crisostomo and Matilda Kuusi and Konrad Patyra and Vladyslav Melnyk and Veli Linnossuo and Johanna Ojala and Rowmika Ravi and Christoffer Lof and Juho-Antti M{\"a}kel{\"a} and P{\"a}ivi Miettinen and Saila Laakso and Marja Ojaniemi and Jarmo J{\"a}{\"a}skel{\"a}inen and Markku Laakso and Filip Bossowski and Beata Sawicka and Karolina Stozek and Artur Bossowski and Gunnar Kleinau and Patrick Scheerer and Reeve, {Mary Pat} and Jukka Kero",

year = "2024",

month = jan,

day = "9",

doi = "10.1172/jci.insight.167092",

language = "English",

volume = "9",

journal = "JCI INSIGHT",

issn = "2379-3708",

publisher = "AMERICAN SOCIETY FOR CLINICAL INVESTIGATION",

number = "4",

}

FinnGen, Makkonen, K, Jännäri, M, Crisostomo, L, Kuusi, M, Patyra, K, Melnyk, V, Linnossuo, V, Ojala, J, Ravi, R, Lof, C, Mäkelä, J-A, Miettinen, P , Laakso, S, Ojaniemi, M, Jääskeläinen, J, Laakso, M, Bossowski, F, Sawicka, B, Stozek, K, Bossowski, A, Kleinau, G, Scheerer, P, Reeve, MP & Kero, J 2024, 'Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model', JCI INSIGHT, vol. 9, nr. 4, e167092. https://doi.org/10.1172/jci.insight.167092

TY - JOUR

T1 - Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model

AU - FinnGen

AU - Makkonen, Kristiina

AU - Jännäri, Meeri

AU - Crisostomo, Luis

AU - Kuusi, Matilda

AU - Patyra, Konrad

AU - Melnyk, Vladyslav

AU - Linnossuo, Veli

AU - Ojala, Johanna

AU - Ravi, Rowmika

AU - Lof, Christoffer

AU - Mäkelä, Juho-Antti

AU - Miettinen, Päivi

AU - Laakso, Saila

AU - Ojaniemi, Marja

AU - Jääskeläinen, Jarmo

AU - Laakso, Markku

AU - Bossowski, Filip

AU - Sawicka, Beata

AU - Stozek, Karolina

AU - Bossowski, Artur

AU - Kleinau, Gunnar

AU - Scheerer, Patrick

AU - Reeve, Mary Pat

AU - Kero, Jukka

PY - 2024/1/9

Y1 - 2024/1/9

KW - Thyroid-stimulating hormone

KW - Tsh-receptor

KW - Somatic mutations

KW - In-vivo

KW - Identification

KW - Polymorphism

KW - Activation

KW - Resistance

KW - Domain

KW - Specificity

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1172/jci.insight.167092

DO - 10.1172/jci.insight.167092

M3 - Article

C2 - 38194289

SN - 2379-3708

VL - 9

JO - JCI INSIGHT

JF - JCI INSIGHT

IS - 4

M1 - e167092

ER -