Results 51 to 60 of about 25,377 (250)

DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis

International Journal of Neonatal Screening, 2021
Glycogen storage disease type Ia (GSDIa) is an autosomal recessive disorder caused by glucose-6-phosphatase (G6PC) deficiency. GSDIa causes not only life-threatening hypoglycemia in infancy, but also hepatocellular adenoma as a long-term complication ...
Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Hiroyuki Awano, Naoko Taniguchi, Yasuhiro Takeshima, Hisahide Nishio, Masakazu Shinohara   +6 more
doaj   +1 more source

Hypothalamic Control of Liver Health and Disease: From Circuits to Pathophysiology and Therapies

Advanced Science, EarlyView.
This review delineates the hypothalamic circuits that control liver homeostasis via autonomic and neuroendocrine pathways. Dysregulation of this hypothalamus–liver axis drives disease progression across a spectrum including steatotic liver disease, liver inflammation and injury, fibrosis, cirrhosis, and hepatocellular carcinoma.
Qin Tang, Jiahui Li, Haiying Song, Ailin Zhang, Haifeng Zeng, Yining Xu, Li Mo, Jinhan He   +7 more
wiley   +1 more source

USP5 Stabilizes TGFBR1 to Drive Vascular Smooth Muscle Cell Senescence and Atherosclerosis

Advanced Science, EarlyView.
This study reveals that USP5 drives vascular smooth muscle cell senescence and atherosclerosis by stabilizing TGFBR1, suppressing IDH2, and promoting glycolytic reprogramming, identifying the USP5‐TGFBR1‐IDH2 axis as a potential therapeutic target. ABSTRACT Vascular smooth muscle cell (VSMC) senescence contributes importantly to atherosclerotic plaque ...
Xinhai Cui, Yuanlong Hu, Lin Lin, Lei Zhang, Chao Li, Yunlun Li   +5 more
wiley   +1 more source

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

Orphanet Journal of Rare Diseases, 2022
Background Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme.
Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici, Arianna Maiorana   +3 more
doaj   +1 more source

Characterization of the extracellular matrix from human and dog umbilical cords

The Anatomical Record, EarlyView.
Abstract The extracellular matrix is important for maintaining tissue morphogenesis and homeostasis; it can also be used as a biomaterial for the production of biological scaffolds. Particularly, the umbilical cord has shown potential in the production of scaffolds for small‐diameter vessels.
Ana Carla Mendonça, Roberta Losi Guembarovski, Carlos Alberto Miqueloto, Alda Fiorina Maria Losi Guembarovski, Caio Garcia Barbosa da Silva, Laís Capelasso Lucas Pinheiro, Phelipe Oliveira Favaron   +6 more
wiley   +1 more source

Developmental Characteristics of the Embryonic Liver Tissue and Long‐Term Culture of Primary Hepatocytes in Duck

Animal Research and One Health, EarlyView.
Liver development was investigated at different embryonic ages (EAs). Furthermore, numerous hepatocyte media were formulated and evaluated. These results could elaborate the developmental characteristics of duck liver tissue and determine the most suitable medium for the proliferation and characteristic maintenance of hepatocytes in vitro, which would ...
Jie Wei, Jing Tang, Bo Zhang, Chenchen Du, Yunsheng Zhang, Ming Xie, Zhengkui Zhou, Shuisheng Hou   +7 more
wiley   +1 more source

Hyperfiltration and renal disease in glycogen storage disease, type I

Kidney International, 1989
A prospective study of 14 patients (ages 6 months to 33 years) with glycogen storage disease, Type I (GSD-I) was carried out in order to define the character and frequency of renal dysfunction. A marked increase in the glomerular filtration rate (GFR) was documented in virtually all subjects, with the mean GFR raised by approximately 50%, to the range ...
Baker, Lester, Dahlem, Stephen, Goldfarb, Stanley, Kern, Elizabeth F.O., Stanley, Charles A., Egler, Joseph, Olshan, Jerrold S., Heyman, Sidney   +7 more
openaire   +2 more sources

Efficacy and safety of empagliflozin for treating neutropenia and neutrophil dysfunction in paediatric patients with glycogen storage disease type Ib: A systematic review and meta‐analysis

British Journal of Clinical Pharmacology, EarlyView.
Aims Glycogen storage disease type Ib (GSD‐Ib) is a rare genetic disorder causing neutropenia and neutrophil dysfunction in children. G‐CSF has been the primary treatment, but emerging data support the potential of empagliflozin, an SGLT2 inhibitor, as a promising investigational option.
Elizabeth Iwasyk, Ryan Jin, Fabio Tuzzolino, Giusy Ranucci, Donatella Madonia, Alessio Provenzani   +5 more
wiley   +1 more source

The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis

Biomolecules
Glycogen storage disease type III (GSDIII) is a hereditary glycogenosis caused by deficiency of the glycogen debranching enzyme (GDE), an enzyme, encoded by Agl, enabling glycogen degradation by catalyzing alpha-1,4-oligosaccharide side chain transfer ...
Kumudesh Mishra, Sahar Sweetat, Saja Baraghithy, Uri Sprecher, Monzer Marisat, Sultan Bastu, Hava Glickstein, Joseph Tam, Hanna Rosenmann, Miguel Weil, Edoardo Malfatti, Or Kakhlon   +11 more
doaj   +1 more source

Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil

Journal of Inborn Errors of Metabolism and Screening, 2015
In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil.
Cristiano Guimarães Kozuki, Carlos Eduardo Steiner MD, PhD   +1 more
doaj   +1 more source