Zobrazeno 1 - 10
of 481
pro vyhledávání: '"Outi, Mäkitie"'
Autor:
Heidi Arponen, Svetlana Vakkilainen, Natalie Tomnikov, Teemu Kallonen, Steffi Silling, Outi Mäkitie, Jaana Rautava
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Cartilage-hair hypoplasia (CHH) is a rare syndromic immunodeficiency with metaphyseal chondrodysplasia and increased risk of malignancy. In this cross-sectional observational study, we examined HPV status and oral microbiome in in
Externí odkaz:
https://doaj.org/article/774543ef3c0d4b6cb17a606a7e7f5f7d
Autor:
Safeer Ahmad, Mari Muurinen, Petra Loid, Muhammad Zeeshan Ali, Muhammad Muzammal, Sana Fatima, Jabbar Khan, Muzammil Ahmad Khan, Outi Mäkitie
Publikováno v:
Bone Reports, Vol 22, Iss , Pp 101789- (2024)
Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare skeletal dysplasia characterized primarily by progressive osteolysis, particularly affecting the carpal and tarsal bones, accompanied by osteoporosis. In addition, it features subcuta
Externí odkaz:
https://doaj.org/article/30d7256302c3454a8782361997028522
Publikováno v:
BMC Musculoskeletal Disorders, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Background Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder characterized by marked progressive bone loss and joint destruction resulting in skeletal deformities. MONA is caused by MMP2 deficien
Externí odkaz:
https://doaj.org/article/a34734d47874464f97360383e2bdca7e
Autor:
Eetu Pello, MD, Leena Kainulainen, MD, PhD, Mikko Vakkilainen, MSc, Paula Klemetti, MD, PhD, Mervi Taskinen, MD, PhD, Outi Mäkitie, MD, PhD, Svetlana Vakkilainen, MD, PhD
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 1, Pp 100190- (2024)
Background: Cartilage–hair hypoplasia (CHH) is a syndromic inborn error of immunity caused by variants in the RMRP gene. Disease manifestations vary, and their ability to predict outcome is uncertain. The optimal management of infants with CHH who
Externí odkaz:
https://doaj.org/article/ab35bfd8701d45edb02fe235ad93b1ef
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2024)
ObjectiveChildren with inflammatory bowel disease (IBD) often suffer from poor bone growth and impaired bone health. Humanin is a cytoprotective factor expressed in bone and other tissues and we hypothesized that humanin levels are suppressed in cond
Externí odkaz:
https://doaj.org/article/3ff2b93082ee42e093977733db53d91f
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background and objectives Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia with associated primary immunodeficiency. The aim of this cross-sectional study was to examine oral health indicators in individuals with CHH. Methods In to
Externí odkaz:
https://doaj.org/article/5e125b08c8f64f8b82d3dc05923cde5f
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:
Maria Enlund-Cerullo, Elisa Holmlund-Suila, Saara Valkama, Helena Hauta-alus, Jenni Rosendahl, Sture Andersson, Minna Pekkinen, Outi Mäkitie
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: The effects of genetic variation in fibroblast growth factor 23 (FGF23) are unclear. This study explores the associations of single-nucleotide polymorphisms (SNPs) of FGF23 with phosphate and vitamin D metabolism and bone strength in ea
Externí odkaz:
https://doaj.org/article/064220d44f95484b9cde4456b5048bd6
Autor:
Amila Larsson, Tobias Regnstrand, Pia Skott, Outi Mäkitie, Sigridur Björnsdottir, Karin Garming-Legert
Publikováno v:
Frontiers in Oral Health, Vol 4 (2023)
ObjectiveThe present study compared the dental health of patients with X-linked hypophosphatemia (XLH) with healthy age- and gender-matched controls to increase our knowledge of the impact of XLH on oral health.Materials and methodsTwenty-two adult p
Externí odkaz:
https://doaj.org/article/275307fecc5f4b3eb09e4174433a5820
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