Results 121 to 130 of about 588,306 (330)

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Thiopurine methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15) are key enzymes that catabolize thiopurines. Decreased or no‐function alleles in TPMT and NUDT15 are associated with reduced or no enzyme activity and predictive of pronounced adverse effects, including severe myelosuppression, that may occur among individuals treated with standard ...
Maud Maillard   +18 more
wiley   +1 more source

Preoperative Detection of Dual TERT Promoter Mutations in Thyroid Cancer: A Case Series

open access: yesDiagnostic Cytopathology, EarlyView.
ABSTRACT Telomerase reverse transcriptase promoter (TERTp) mutations are associated with aggressive thyroid cancer and are most frequently found in anaplastic and poorly differentiated thyroid cancer. Pre‐operative thyroid nodule molecular testing can detect TERTp, denoting a high risk of malignancy and possible aggressive clinical features such as ...
Amir Harari   +7 more
wiley   +1 more source

Endocrinology: Patients suffering from H63D syndrome are at high risk to develop clinically relevant endocrine abnormalities affecting their adrenal glands as well as their HPA and SMA axes

open access: green, 2022
Marius Lazar   +16 more
openalex   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser   +5 more
wiley   +1 more source

Bromocriptine approved as the first medication to target dopamine activity to improve glycemic control in patients with type 2 diabetes

open access: yesDiabetes, Metabolic Syndrome and Obesity, 2010
Michael A Via1, Himani Chandra2, Takako Araki1, Matthew V Potenza3, Maria Skamagas41Division of Endocrinology and Metabolism, Albert Einstein College of Medicine, Beth Israel Medical Center, New York, NY, USA; 2Division of Endocrinology, Diabetes and ...
Via MA
doaj   +2 more sources

Clinical Images: Methotrexate‐induced melanonychia

open access: yes
Arthritis &Rheumatology, EarlyView.
Yoshinori Taniguchi, Hirotaka Yamamoto
wiley   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki   +6 more
wiley   +1 more source

Endocrine Entropy

open access: yesJournal of the Pakistan Medical Association
This communication defines and describes the novel concept of endocrine entropy. The authors share insights regarding the various facets of entropy in endocrine epidemiology, physiology, clinical presentation and management.
Sanjay Kalra, Nitin Kapoor
doaj   +1 more source

A suggested prototype for assessing bone health [PDF]

open access: yes, 2015
Background- Osteoporosis is becoming a health concern worldwide. Considering the fact that prevention plays an important role in reducing the burden of this silent disease and in view of the limited resources available, many countries have adopted ...
Aghaei Meybodi, H.-D.   +17 more
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