Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mira Aronen"'
Autor:
Sandra Pihlström, Kirsi Määttä, Tiina Öhman, Riikka E. Mäkitie, Mira Aronen, Markku Varjosalo, Outi Mäkitie, Minna Pekkinen
Publikováno v:
Frontiers in Molecular Biosciences, Vol 9 (2022)
Background: Various skeletal disorders display defects in osteoblast development and function. An in vitro model can help to understand underlying disease mechanisms. Currently, access to appropriate starting material for in vitro osteoblastic studie
Externí odkaz:
https://doaj.org/article/b4992a09c3ad49ffa2d611a8eb30d27e
Publikováno v:
Bone Reports. 16:101391
Autor:
Minna Pekkinen, Outi Mäkitie, Terhi J. Heino, Lisette Nevarez, Cynthia J. Curry, Christine M. Laine, Heikki Kröger, Mira Aronen, Kyu Sang Joeng, Maija Wessman, Daniel H. Cohn, Brendan Lee, Deborah Krakow, Philippe M. Campeau, James T. Lu, William G. Cole, Richard A. Gibbs, Monica Grover, Riku Kiviranta, Tero Laine, Vappu Nieminen-Pihala, Kati Tarkkonen, Anna-Elina Lehesjoki
Publikováno v:
New England Journal of Medicine. 368:1809-1816
This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). In a separat