Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a critical signaling pathway during development. The ophthalmologist can play an important role in the diagnosis of Alagille syndrome by identifying the characteristic ocular findings. These include a posterior embryotoxon, optic disc drusen, angulated retinal vessels, and a pigmentary retinopathy. Despite recent advances in the genetics of Alagille syndrome, the correlations between genotypes and phenotypes remain incompletely defined.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/08820530701745108 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.
Neurosurg Focus
January 2025
1Department of Pediatric Neurosurgery, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris.
Objective: Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder with typical facial features and hepatobiliary, cardiac, vascular, skeletal, and ocular manifestations. The occurrence of craniosynostosis in ALGS is rare and can be associated with chronic ICH, requiring craniofacial surgery to increase the intracranial volume.
View Article and Find Full Text PDFGeneration of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.
Stem Cell Res
December 2024
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address:
Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in the identification of therapeutics to treat patients with ALGS.
View Article and Find Full Text PDFDose-related effects of intraduodenal quinine on plasma glucose, glucoregulatory hormones and gastric emptying of a nutrient drink, and energy intake, in men with type 2 diabetes: a double-blind, randomised, crossover study.
Diabetologia
December 2024
Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.
Aims/hypothesis: Quinine, when administered intraduodenally to activate bitter-taste receptors, in a dose of 600 mg, stimulates glucagon-like peptide-1 (GLP-1) and insulin, slows gastric emptying and lowers postprandial glucose in healthy people, with consequent implications for the management of type 2 diabetes; the effect of quinine on energy intake is uncertain. We have investigated the dose-related effects of quinine on postprandial blood glucose levels and energy intake in people with type 2 diabetes.
Methods: Male participants with type 2 diabetes (age: 68±5 years; HbA: 49.
Exploring bile acid transporters as key players in cancer development and treatment: Evidence from preclinical and clinical studies.
Cancer Lett
January 2025
Cancer Biology Laboratory, Department of Biosciences and Bioengineering, Indian Institute of Technology Guwahati (IITG), Guwahati, 781039, Assam, India. Electronic address:
Article Synopsis
- - Bile acid transporters (BATs) are important proteins that help move bile acids in the body, especially in the liver, kidney, and small intestine, and are linked to fat absorption and liver function.
- - Altered levels of bile acids are associated with cancer, but the specific role of BATs in cancer progression—like tumor growth and spread—has not been fully explored yet.
- - This review suggests that researching BATs further could lead to new cancer treatments, especially for liver and gastrointestinal cancers, and encourages targeting these transporters with different techniques for potential therapies.
Right Ventricular Extrinsic Compression Tamponade Caused by Dilation/Necrosis of a Coloplasty Performed for Esophageal Squamous Cell Carcinoma.
Indian J Surg Oncol
December 2024
AP-HP Nord, Anesthesiology and Intensive Care Department, Bichat-Claude Bernard University Hospital, Paris, France.
In the context of dysphagia, an infiltrating squamous cell carcinoma of the esophagus was diagnosed in a 43-year-old woman with a history of two liver and one kidney transplants as a result of Alagille syndrome. An esophagectomy with retrosternal left coloplasty (esocolic, gastrocolic, and colocolic anastomoses) was performed. On postoperative day 2, her hemodynamic status deteriorated resulting in significant increases in norepinephrine doses (from 0.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!