Results 161 to 170 of about 90,318,030 (246)

Current Approaches to Support Patients to Withdraw From Image and Performance Enhancing Drugs

Clinical Endocrinology, EarlyView.
ABSTRACT Image and performance‐enhancing drugs (IPEDs) include agents such as androgens, growth hormone, and erythropoietin, which are used to enhance appearance and physical performance. Androgens, also known as anabolic‐androgenic steroids (AAS), are the most used IPEDs worldwide.
Elizabeth Hyams, Bonnie Grant, Richard Quinton, Channa N. Jayasena   +3 more
wiley   +1 more source

Coexistence of Resistance to Thyroid Hormone and a Thyroid Stimulating Hormone-Secreting Pituitary Adenoma. [PDF]

AACE Endocrinol Diabetes
Koo TH, Gharib H.
europepmc   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Liver Organoids: From Disease Modelling to Regenerative Medicine

Cell Proliferation, EarlyView.
Liver organoids provide a versatile platform for disease modelling and drug discovery, leveraging stem cells and engineering techniques. They bridge research and clinical applications, offering significant potential for advancing precision medicine and regenerative therapies for liver diseases.
Tiepeng Wang, Xiaotian Qu, Jinhong Si, Junkang Meng, Ting Zhang, Shuliang Niu   +5 more
wiley   +1 more source

Novel Thyroid Hormone Receptor β Gene Variant (F245L) Causing Mild Resistance to Thyroid Hormone. [PDF]

JCEM Case Rep
Yamagami K, Kanamoto N, Yamashita Y, Sasai Y, Tagami T.   +4 more
europepmc   +1 more source

Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation. [PDF]

Int J Mol Sci, 2022
Lai HP, Chen MH.
europepmc   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

Developmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Graves' Masquerade: A Case of Resistance to Thyroid Hormone (RTH) Syndrome. [PDF]

Cureus
Chin YH, Anthony Bernard DM, Foo SH.
europepmc   +1 more source

Structure-Guided Approach to Relieving Transcriptional Repression in Resistance to Thyroid Hormone α. [PDF]

Mol Cell Biol, 2022
Romartinez-Alonso B, Agostini M, Jones H, McLellan J, Sood DE, Tomkinson N, Marelli F, Gentile I, Visser WE, Schoenmakers E, Fairall L, Privalsky M, Moran C, Persani L, Chatterjee K, Schwabe JWR.   +15 more
europepmc   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source