Kristiina Makkonen

Identification of a stat3 mutation, P.THR716MET in two cases of very early-onset autoimmune hypothyroidism (2024)

Endocrine Abstracts

Ravi Rowmika; Nuutinen Anita; Makkonen Kristiina; Toppari Jorma; Kero Jukka

(Konferenssiposteri)

Altered skull and bone morphology in hyperthyroid knock-in mice with TSHR M453T and D633H mutations (2024)

Endocrine Abstracts

Makkonen Kristiina; Määttä Jorma; Ivaska Kaisa; Patyra Konrad; Melnyk Vladyslav; Linnossuo Veli; Ojala Johanna; Ravi Rowmika; Jaschke Holger; Undeutsch Julian; Kero Jukka

(O2 Muu julkaisu )

Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model (2024)

JCI Insight

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

(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Decoding SLC26A7'S role in congenital hypothyroidism: delayed onset, very large goiters, and thyrotropin dependent basolateral expression (2024)

Endocrine Abstracts

Ojala Johanna; Niuro Laura; Ravi Rowmika; Melnyk Vladyslav; Linnossuo Veli; Makkonen Kristiina; Jääskelainen Jarmo; Danner Emmi; Huopio Hanna; Niinikoski Harri; Viikari Liisa; Miettinen Paivi; Schoenmakers Nadia; Pat Reeve Mary; Kero Jukka

(Konferenssiposteri)

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4 (2021)

Frontiers in Endocrinology

Patyra Konrad, Makkonen Kristiina, Haanpää Maria, Karppinen Sinikka, Viikari Liisa, Toppari Jorma, Reeve Mary Pat, Kero Jukka

(Vertaisarvioitu alkuperäisartikkeli tai data-artikkeli tieteellisessä aikakauslehdessä (A1))

Kristiina

Makkonen

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Identification of a stat3 mutation, P.THR716MET in two cases of very early-onset autoimmune hypothyroidism (2024)

Altered skull and bone morphology in hyperthyroid knock-in mice with TSHR M453T and D633H mutations (2024)

Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model (2024)

Decoding SLC26A7'S role in congenital hypothyroidism: delayed onset, very large goiters, and thyrotropin dependent basolateral expression (2024)

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4 (2021)