Results 291 to 300 of about 380,993 (362)

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Safe dosage and potential risks of chlorogenic acid: insights from <i>in vitro</i> and <i>in vivo</i> studies. [PDF]

Front Pharmacol
Pang Y, Jiang M, Ge B, Huang L, Rao X, Wang X, Zhou H, Lyu J, Wang Z, Tan G.   +9 more
europepmc   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Enhanced liver-targeted delivery with ribofuranose-based GalNAc conjugates. [PDF]

Mol Ther Nucleic Acids
Pradeep SP, Ruchi R, Bahal R.
europepmc   +1 more source

The effect of microtubular inhibitors on secretion from liver into blood plasma and bile [PDF]

, 1976
Gratzl, Manfred, Schwab, D.
core  

Quantitative proteomics identifies clusterin as a novel biomarker for atherosclerosis

Animal Models and Experimental Medicine, EarlyView.
This schematic illustrates the proposed mechanism. In advanced atherosclerotic lesions, upregulated CLU on the cell surface activates low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1). This interaction triggers the phosphorylation and activation of AKT.
Dengfeng Ding, Yingjie Zhang, Li Zhang, Xinou Zheng, Miaomiao Niu, Yunxiao Jia, Xuezhuang Li, Hua Chen, Chao Guo, Tao Jiang, Yuqiong Zhao   +10 more
wiley   +1 more source

Synergistic therapeutic strategies for metabolic dysfunction-associated steatohepatitis and type 2 diabetes mellitus: molecular insights and clinical advances. [PDF]

Front Endocrinol (Lausanne)
Zhu B.
europepmc   +1 more source

Molecular characterization of the A52 murine hepatocellular carcinoma cell line

Animal Models and Experimental Medicine, EarlyView.
Hepatocellular carcinoma (HCC) is a poor outcome cancer with limited therapeutic choices. To advance therapeutic development we genetically characterized the A52 murine HCC cell line. We noted genetic changes that match a subset of human HCC and this offers the opportunity to test novel targeted therapies in syngeneic mice.
Rhys Gillman, Eun Jin Sun, Miriam Wankell, Matt A. Field, Ulf Schmitz, Lionel Hebbard   +5 more
wiley   +1 more source

Pregnane X Receptor Regulates Human Endocrine System by Inducing Sex Hormone-Binding Globulin Expression. [PDF]

Basic Clin Pharmacol Toxicol
Ahonen MH, Konzack A, Smutny T, Pavek P, Hakkola J, Hukkanen J.   +5 more
europepmc   +1 more source