Publications by authors named "K Makkonen"
The clinical spectrum of thyrotropin receptor-mediated (TSHR-mediated) diseases varies from loss-of-function mutations causing congenital hypothyroidism to constitutively active mutations (CAMs) leading to nonautoimmune hyperthyroidism (NAH). Variation at the TSHR locus has also been associated with altered lipid and bone metabolism and autoimmune thyroid diseases. However, the extrathyroidal roles of TSHR and the mechanisms underlying phenotypic variability among TSHR-mediated diseases remain unclear.
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- Central hypothyroidism (CeH) is a rare disorder that can impact normal development, often going undetected in newborn screenings as they focus on more common forms of hypothyroidism.
- A study identified a novel genetic mutation in two brothers diagnosed with CeH, utilizing targeted next-generation sequencing (NGS) and extensive diagnostic tests.
- The research highlights a strong genetic association with thyroid disorders in a Finnish population, indicating potential links between the identified mutation and broader thyroid disease risk.
Wrist Fracture is the most common type of fracture with a high incidence rate. Conventional radiography (i.e.
View Article and Find Full Text PDFOvarian cancer is a common pathology in the structure of tumors among elderly women. The aim of the work is to identify the leading indicators of interleukin profile to improve the diagnosis of ovarian cancer in the elderly. Enzyme immunoassay studied serum levels of interleukins in 78 patients with ovarian cancer stage IIB-IIIB according to the classification of FIGO at the age of 65-70 years and 42 women of similar age without ovarian cancer at the time of the study and in history.
View Article and Find Full Text PDFBackground: Constitutively active thyrotropin receptor (TSHR) mutations are the most common etiology of non-autoimmune hyperthyroidism (NAH). Thus far, the functionality of these mutations has been tested in vitro, but the in vivo models are lacking.
Methods: To understand the pathophysiology of NAH, the patient-derived constitutively active TSHR D633H mutation was introduced into the murine Tshr by homologous recombination.