Publications by authors named "K Patyra"
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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- Nonautoimmune hyperthyroidism (NAH) results from mutations in the thyroid stimulating hormone receptor (TSHR) and correlates with a high incidence of papillary thyroid cancer in specific mouse models.
- Whole exome sequencing and phosphoproteome analysis of these mice revealed three mutated genes but indicated distinct changes in signaling pathways related to cancer development, particularly in the ERK/MAPK pathway.
- The study establishes a potential mechanism linking TSH signaling to thyroid cancer via alterations in phosphoproteins, marking a significant finding in understanding thyroid carcinoma development.
The human adrenal cortex undergoes several rapid remodeling steps during its lifetime. In rodents, similar remodeling occurs postnatally in the "X-zone" layer through unknown mechanisms. Furthermore, little is known regarding the impact of thyroid hormone (TH) on adrenal glands in humans.
View Article and Find Full Text PDFCancer cells hijack developmental growth mechanisms but whether tissue morphogenesis and architecture modify tumorigenesis is unknown. Here, we characterized a new mouse model of sporadic thyroid carcinogenesis based on inducible expression of BRAF carrying a Val600 Glu (V600E) point mutation (BRAFV600E) from the thyroglobulin promoter (TgCreERT2). Spontaneous activation of this Braf-mutant allele due to leaky activity of the Cre recombinase revealed that intrinsic properties of thyroid follicles determined BRAF-mutant cell fate.
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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.