American Journal of Medical Genetics Part A, EarlyView.ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio +12 more
wiley +1 more source
International Journal of General MedicineJiwei Chen, Haifeng Zhong, Yuedong Wang Department of Thyroid Surgery, Meizhou People’s Hospital, Meizhou, People’s Republic of ChinaCorrespondence: Haifeng Zhong, Department of Thyroid Surgery, Meizhou People’s Hospital, Meizhou, People’s Republic of ...
Chen J, Zhong H, Wang Y
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Alliric Willis Leads Study Exploring Demographics, Disparities and Outcomes in Substernal Goiters [PDF]
, 2016 Lack of iodine makes goiters— enlargement of the thyroid gland in the neck—common in some parts of the world. In the United States, salt is enriched with iodine, so the condition is far less common.
core +1 more source
Schizophrenia Genetics Modulates Clinical Depressive Features
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti +13 more
wiley +1 more source
Relationship Between Mitochondrial Biological Function and Breast Cancer
The Breast JournalConclusion: In conclusion, this study provides evidence of a causal relationship between mitochondrial function and breast cancer in both European and East Asian populations. Additional research is warranted to further elucidate the mechanisms underlying
Shichen Miao, Qichao Ni, Jun Fang
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Hyperthyroidism in cats, part I : anatomy, physiology, pathophysiology, diagnosis and imaging [PDF]
, 2016 In the first part of this review article, thyroid anatomy, physiology and pathophysiology are reviewed to continue more specifically on hyperthyroidism, the most common thyroid disorder in cats.
Daminet, Sylvie +4 more
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Image-Guided Thermal Ablation as an Alternative to Surgery for Papillary Thyroid Microcarcinoma: Preliminary Results of an Italian Experience [PDF]
, 2021 Giovanni Mauri +10 more
openalex +1 more source
Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé +5 more
wiley +1 more source
Journal of Immunology ResearchIn recent years, a growing body of evidence has suggested a correlation between Hashimoto’s thyroiditis (HT) and the onset and progression of papillary thyroid carcinoma (PTC). However, the mechanism underlying the relationship between HT and PTC remains
Digui Fang, Limei Zhou, Biao Zheng
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Diffuse sclerosing variant of thyroid carcinoma presenting as Hashimoto thyroiditis: a case report [Difuzno sklerozirajući oblik papilarnog karcinoma štitnjače nalik Hashimoto tireoiditisu: prikaz slučaja] [PDF]
, 2012 The aim of report is to present a case of a rare diffuse sclerosing variant of a papillary thyroid carcinoma. A 15-year old girl referred for ultrasound examination because of painless thyroid swelling lasting 10 days before.
Banek, Tomislav +4 more
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