Results 191 to 200 of about 5,282,014 (364)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

open access: yesAmerican 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

Bilateral papillary thyroid cancer: Pitfalls of ACR TI-RADS and evaluation of modified parameters [PDF]

open access: gold, 2023
Tingting Li   +6 more
openalex   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

open access: yesAmerican 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

Hepatocyte Growth Factor/C-Met Axis in Thyroid Cancer: From Diagnostic Biomarker to Therapeutic Target [PDF]

open access: gold, 2017
Maria Trovato   +4 more
openalex   +1 more source

Radiation emergency medical countermeasures: Current formulary, identified gaps, and future approaches

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Current radiation medical countermeasures primarily focus on hematopoietic acute radiation syndrome (H‐ARS) using agents like granulocyte colony‐stimulating factor (G‐CSF), granulocyte‐macrophage colony‐stimulating factor (GM‐CSF), and romiplostim, alongside treatments for internal contamination (Prussian blue, diethylenetriamine pentaacetate [DTPA ...
Wen‐Bing Ma   +12 more
wiley   +1 more source

Multiomics identifies the link between intratumor steatosis and the exhausted tumor immune microenvironment in hepatocellular carcinoma

open access: yesHepatology, EarlyView., 2022
Steatotic HCC can be diagnosed by MRI and forms a pro‐tumor immune microenvironment with high expression of PD‐L1, M2 polarization of macrophages and activation of CAFs, which may be a good target for combined immunotherapy. Abstract Background and Aims Immunotherapy has become the standard‐of‐care treatment for hepatocellular carcinoma (HCC), but its ...
Hiroki Murai   +29 more
wiley   +1 more source

A Surgical Case of Bilateral Pulmonary Metastases from Thyroid Follicular Cancer

open access: diamond, 2015
Motohisa Kuwahara   +4 more
openalex   +2 more sources

Pregnancy Outcomes in Women With Systemic Sclerosis Before and/or After Diagnosis and by Parity: A Swedish Population‐Based Cohort Study

open access: yesArthritis &Rheumatology, EarlyView.
Objective To assess risks of adverse pregnancy outcomes (APOs) in a contemporary cohort of women with systemic sclerosis (SSc) in relation to the timing of SSc diagnosis and by parity. Methods From the nationwide Swedish Medical Birth Register, we assembled pregnancies with births in women with SSc and in comparator women from the general population ...
Weng Ian Che   +5 more
wiley   +1 more source

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