Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Riikka E. Mäkitie"'
Autor:
Sandra Pihlström, Sampo Richardt, Kirsi Määttä, Minna Pekkinen, Vesa M. Olkkonen, Outi Mäkitie, Riikka E. Mäkitie
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Pathogenic heterozygous variants in SGMS2 cause a rare monogenic form of osteoporosis known as calvarial doughnut lesions with bone fragility (CDL). The clinical presentations of SGMS2-related bone pathology range from childhood-onset osteoporosis wi
Externí odkaz:
https://doaj.org/article/e6aa24c419f745f58407d86e2218a246
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:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundThe pathogenic mechanisms of early-onset osteoporosis caused by WNT1 and PLS3 mutations are incompletely understood and diagnostic biomarkers of these disorders are limited. Recently, lipocalin-2 has been recognized as an osteokine involved
Externí odkaz:
https://doaj.org/article/84475e179ce748518ccbe12148c9bc4f
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartilaginous tissues. Several different forms have been described and the full spectrum of their clinical manifestations and underlying genetic causes are s
Externí odkaz:
https://doaj.org/article/dab00533f4de4002942553916fa65d54
Autor:
Riikka E. Mäkitie, Stéphane Blouin, Ville‐Valtteri Välimäki, Sandra Pihlström, Kirsi Määttä, Minna Pekkinen, Nadja Fratzl‐Zelman, Outi Mäkitie, Markus A. Hartmann
Publikováno v:
JBMR Plus, Vol 5, Iss 11, Pp n/a-n/a (2021)
Abstract Pathological variants in SGMS2, encoding sphingomyelin synthase 2 (SMS2), result in a rare autosomal dominant skeletal disorder with cranial doughnut lesions. The disease manifests as early‐onset osteoporosis or a more severe skeletal dysp
Externí odkaz:
https://doaj.org/article/acebc817b0f14b70aa54dc378913b30f
Autor:
Riikka E. Mäkitie, Petra Henning, Yaming Jiu, Anders Kämpe, Konstantin Kogan, Alice Costantini, Ville‐Valtteri Välimäki, Carolina Medina‐Gomez, Minna Pekkinen, Isidro B. Salusky, Camilla Schalin‐Jäntti, Maria K. Haanpää, Fernando Rivadeneira, John H. Duncan Bassett, Graham R. Williams, Ulf H. Lerner, Renata C. Pereira, Pekka Lappalainen, Outi Mäkitie
Publikováno v:
JBMR Plus, Vol 5, Iss 7, Pp n/a-n/a (2021)
ABSTRACT Ras homologous guanosine triphosphatases (RhoGTPases) control several cellular functions, including cytoskeletal actin remodeling and cell migration. Their activities are downregulated by GTPase‐activating proteins (GAPs). Although RhoGTPa
Externí odkaz:
https://doaj.org/article/ae5b7d1bfcd64f619f4c5b2f5784b9ad
Autor:
Riikka E. Mäkitie, Tuukka Niinimäki, Maria Suo-Palosaari, Anders Kämpe, Alice Costantini, Sanna Toiviainen-Salo, Jaakko Niinimäki, Outi Mäkitie
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
Objective: Mutations in the X-chromosomal PLS3-gene, encoding Plastin 3, lead to severe early-onset osteoporosis, suggesting a major role for PLS3 in bone metabolism. However, the consequences of abnormal PLS3 function in bone and other tissues remai
Externí odkaz:
https://doaj.org/article/52e839588c96465dbea095ad1d3f971b
Autor:
Petra Loid, Taina Mustila, Riikka E. Mäkitie, Heli Viljakainen, Anders Kämpe, Päivi Tossavainen, Marita Lipsanen-Nyman, Minna Pekkinen, Outi Mäkitie
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
Context: The hypothalamic circuit has an essential role in the regulation of appetite and energy expenditure. Pathogenic variants in genes involved in the hypothalamic leptin–melanocortin pathway, including melanocortin-4-receptor (MC4R), have been
Externí odkaz:
https://doaj.org/article/e98d2025a9bc49f8a4cacb8362dbfde3
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
Osteoporosis, characterized by deteriorated bone microarchitecture and low bone mineral density, is a chronic skeletal disease with high worldwide prevalence. Osteoporosis related to aging is the most common form and causes significant morbidity and
Externí odkaz:
https://doaj.org/article/a9a890da9d4740ea904a19443077110f
Autor:
Alice Costantini, Sini Skarp, Anders Kämpe, Riikka E. Mäkitie, Maria Pettersson, Minna Männikkö, Hong Jiao, Fulya Taylan, Anna Lindstrand, Outi Mäkitie
Publikováno v:
Frontiers in Endocrinology, Vol 9 (2018)
Early-onset osteoporosis is characterized by low bone mineral density (BMD) and fractures since childhood or young adulthood. Several monogenic forms have been identified but the contributing genes remain inadequately characterized. In search for nov
Externí odkaz:
https://doaj.org/article/8a6606054151457db6a3f1a373ef771b