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Mashup Score: 0Patient-derived parathyroid organoids as a tracer and drug-screening application model - 2 year(s) ago
Parathyroid diseases are characterized by dysregulation of calcium homeostasis and alterations in parathyroid hormone (PTH) excretion. The development…
Source: www.sciencedirect.comCategories: Endocrinology, Latest HeadlinesTweet
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Mashup Score: 0
Background/aim: Data on the presence and extent of cardiovascular disease (CVD) risk in primary hyperparathyroidism (PHPT) are conflicting. In our study, we aimed to investigate the increased CVD risk in patients with PHPT by carotid intima-media thickness (CIMT), epicardial adipose tissue (EAT) thickness, and serum levels of endocan and nesfatin-1. Materials and methods: Patients with PHPT (n =…
Source: TÜBİTAK Academic JournalsCategories: Endocrinology, Latest HeadlinesTweet-
Increased risk of cardiovascular disease in patients with primary hyperparathyroidism? https://t.co/Fq0xmW0FzW
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Mashup Score: 0The cAMP-signaling cancers: Clinically-divergent disorders with a common central pathway - 2 year(s) ago
The cAMP-signaling cancers, which are defined by functionally-significant somatic mutations in one or more elements of the cAMP signaling pathway, have an unexpectedly wide range of cell origins, clinical manifestations, and potential therapeutic options. Mutations in at least 9 cAMP signaling pathway genes (TSHR, GPR101, GNAS, PDE8B, PDE11A, PRKARA1, PRKACA, PRKACB, and CREB) have been…
Source: FrontiersCategories: Endocrinology, Latest HeadlinesTweet-
The cAMP-signaling cancers: Clinically-divergent disorders with a common central pathway https://t.co/cPKXmuLrlu
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Mashup Score: 0Pediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases - 2 year(s) ago
Primary Hyperparathyroidism (PHPT) is rare in pediatric patients. Data regarding surgical outcomes are scarce.Single-center retrospective review (1994…
Source: www.sciencedirect.comCategories: Endocrinology, Latest HeadlinesTweet-
Nice paper detailing experience with primary hyperparathyroidism in children. @AZennoMD https://t.co/hjrN2IRzdZ
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Mashup Score: 0Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing syndrome and acral cutaneous mucinosis - 2 year(s) ago
Genetic alterations within the cAMP/PKA pathway result in a spectrum of adrenocortical disorders. Implicated genes include GNAS, PDE8, PDE11A, PRKAR1A/B, and PRKACA. To date, somatic PRKACA mutations and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While perturbations…
Source: ejeCategories: Endocrinology, Latest HeadlinesTweet-
"It suggests that the Cushing syndrome phenotypes arising from somatic and germline PRKACA abnormalities likely exist on a spectrum." Mosaic PRKACA duplication causing early-onset Cushing syndrome and acral cutaneous mucinosis https://t.co/GNSE0OD158
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Mashup Score: 0
Multiple endocrine neoplasia 4 (MEN4) is a rare multiglandular endocrine neoplasia syndrome clinically hallmarked by primary hyperparathyroidism (PHPT), pituitary adenoma (PitAd) and neuroendocrine tumors (NET), clinically overlapping MEN1. The underlying mutated gene, CDKN1B, encodes for the cell-cycle regulator p27. Possible genotype-phenotype correlation in MEN4 have not been thoroughly…
Source: ercCategories: Endocrinology, Latest HeadlinesTweet-
Phenotype-genotype correlation in MEN4 - particularly challenging in genetic disorders of incomplete penetrance. https://t.co/mTin04fmaI
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Mashup Score: 1Metastatic Grade 3 Neuroendocrine Tumor in Multiple Endocrine Neoplasia Type 1 Expressing Somatostatin Receptors - 2 year(s) ago
Abstract. Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) may occur in 30% to 90% of patients with multiple endocrine neoplasia type 1 (MEN1). However,
Source: OUP AcademicCategories: Endocrinology, Latest HeadlinesTweet-
Grade 3 NETs in MEN1 - thankful for the multidisciplinary team in caring for these patients.#MEN1 https://t.co/JWUH9a17d5… @JaydiDelRivero @samira_sadowski @jenny_blau @NIHClinicalCntr @NIDDKgov
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Mashup Score: 1Systematic detection of mosaicism by using digital NGS reveals 3 new MEN1 mosaicisms - 2 year(s) ago
Purpose: Mosaicism is a feature of several inherited tumor syndromes. Only few cases of mosaicism in Multiple Endocrine Neoplasia type 1 (MEN1) have been described. Next generation sequencing (NGS) offers new possibilities for detecting mosaicism. Here we report the first study to systematically look for MEN1 mosaicism, using blood DNA, in MEN1-suspected patients but without MEN1 pathogenic…
Source: ECCategories: Endocrinology, Latest HeadlinesTweet-
MEN1 mosaicism - the mystery of genotype-negative #MEN1 https://t.co/bKFOLCC4We
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Mashup Score: 0Metastatic Grade 3 Neuroendocrine Tumor in Multiple Endocrine Neoplasia Type 1 Expressing Somatostatin Receptors - 2 year(s) ago
Abstract. Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) may occur in 30% to 90% of patients with multiple endocrine neoplasia type 1 (MEN1). However,
Source: OUP AcademicCategories: Endocrinology, Latest HeadlinesTweet-
Grade 3 NETs in MEN1 - thankful for the multidisciplinary team in caring for these patients.#MEN1 @NIHClinicalCntr @NIDDKgov https://t.co/JWUH9a17d5 @JaydiDelRivero @samira_sadowski @jenny_blau
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Mashup Score: 3
Biased agonism is a frontier field in G-protein coupled receptor (GPCR) research. Acquired hypocalciuric hypercalcemia (AHH) is a rare disease caused by calcium-sensing receptor (CaSR) autoantibodies, to date, showing either simple blocking or biased properties (i.e., stimulatory or blocking effects …
Source: PubMedCategories: Endocrinology, Latest HeadlinesTweet-
Managing patients with acquired hypocalciuric #hypercalcemia caused by biased allosteric #CASR autoantibodies. https://t.co/kFSAGmpdab
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Patient-derived parathyroid organoids for drug-screening https://t.co/zkUq1aTbVW