4.6 Article

Liver Fibrosis and Steatosis in Alstrom Syndrome: A Genetic Model for Metabolic Syndrome

Related references

Note: Only part of the references are listed.
Article Endocrinology & Metabolism

Relative Adipose Tissue Failure in Alstrom Syndrome Drives Obesity-Induced Insulin Resistance

Tarekegn Geberhiwot et al.

Summary: This study reports a monogenic form of obesity called Alstrom Syndrome (ALMS) that is prone to insulin resistance. It shows relative adipose tissue failure in monogenic obese individuals, which may be a major determinant of accelerated insulin resistance without evidence of lipodystrophy. These new insights into adipocyte-driven insulin resistance could help in developing targeted therapeutic strategies for diabetes.

DIABETES (2021)

Article Genetics & Heredity

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alstrom syndrome

Francesca Dassie et al.

Summary: Alstrom Syndrome is an extremely rare autosomal recessive monogenic disease caused by pathogenic variants in the ALMS1 gene. A study was conducted to investigate cognitive functions in patients with this syndrome, identifying six new pathogenic variants in ALMS1. The research found that patients with a milder phenotype performed better on certain neurocognitive tests compared to those with a typical phenotype, and deficits in auditory working memory and apraxia were common among all patients.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

Article Transplantation

Liver Transplantation in Alstrom Syndrome: A Case Report

Fuat Aksoy et al.

Experimental and Clinical Transplantation (2021)

Article Cardiac & Cardiovascular Systems

2019 ESC Guidelines on diabetes, pre-diabetes, and cardiovascular diseases developed in collaboration with the EASD

Francesco Cosentino et al.

EUROPEAN HEART JOURNAL (2020)

Article Genetics & Heredity

Consensus clinical management guidelines for Alstrom syndrome

Natascia Tahani et al.

ORPHANET JOURNAL OF RARE DISEASES (2020)

Article Biochemistry & Molecular Biology

The EMBL-EBI search and sequence analysis tools APIs in 2019

Fabio Madeira et al.

NUCLEIC ACIDS RESEARCH (2019)

Editorial Material Gastroenterology & Hepatology

Role of two-dimensional shear wave elastography in the assessment of chronic liver diseases

Siddharth Singh et al.

HEPATOLOGY (2018)

Review Gastroenterology & Hepatology

Non-invasive assessment of non-alcoholic fatty liver disease: Clinical prediction rules and blood-based biomarkers

Eduardo Vilar-Gomez et al.

JOURNAL OF HEPATOLOGY (2018)

Editorial Material Gastroenterology & Hepatology

Response to: Comment to EASL-EASD-EASO Clinical Practice Guidelines for the management of non-alcoholic fatty liver disease

Giulio Marchesini et al.

JOURNAL OF HEPATOLOGY (2017)

Review Medicine, General & Internal

Use of Liver Imaging and Biopsy in Clinical Practice

Elliot B. Tapper et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Article Multidisciplinary Sciences

Unifying mechanism for different fibrotic diseases

Gerlinde Wernig et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Review Gastroenterology & Hepatology

AISF position paper on nonalcoholic fatty liver disease (NAFLD): Updates and future directions

Amedeo Lonardo et al.

DIGESTIVE AND LIVER DISEASE (2017)

Article Genetics & Heredity

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen et al.

HUMAN MUTATION (2016)

Article Gastroenterology & Hepatology

Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alstrom syndrome

Laura L. Gathercole et al.

LIVER INTERNATIONAL (2016)

Article Endocrinology & Metabolism

The multiple-hit pathogenesis of non-alcoholic fatty liver disease (NAFLD)

Elena Buzzetti et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2016)

Article Genetics & Heredity

Alstrom Syndrome: Mutation Spectrum of ALMS1

Jan D. Marshall et al.

HUMAN MUTATION (2015)

Article Developmental Biology

A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice

Deborah Heydet et al.

DEVELOPMENTAL NEUROBIOLOGY (2013)

Article Acoustics

Sonographic hepatorenal ratio: A noninvasive method to diagnose nonalcoholic steatosis

Valeria Ferreira de Almeida e Borges et al.

JOURNAL OF CLINICAL ULTRASOUND (2013)

Article Gastroenterology & Hepatology

Alstrom syndrome with liver cirrhosis: First case from Turkey

Murat Biyik et al.

TURKISH JOURNAL OF GASTROENTEROLOGY (2013)

Article Biochemistry & Molecular Biology

Alstrom Syndrome: Genetics and Clinical Overview

Jan D. Marshall et al.

CURRENT GENOMICS (2012)

Article Gastroenterology & Hepatology

GENERAL RULES FOR RECORDING ENDOSCOPIC FINDINGS OF ESOPHAGOGASTRIC VARICES (2ND EDITION)

Takashi Tajiri et al.

DIGESTIVE ENDOSCOPY (2010)

Article Gastroenterology & Hepatology

Comparison of Noninvasive Markers of Fibrosis in Patients With Nonalcoholic Fatty Liver Disease

Amy G. Shah et al.

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2009)

Article Endocrinology & Metabolism

Sonographic hepatic-renal ratio as indicator of hepatic steatosis: comparison with 1H magnetic resonance spectroscopy

Marcello Mancini et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2009)

Article Radiology, Nuclear Medicine & Medical Imaging

US, CT, and MR imaging of hepatic masses in Alstrom syndrome: a case report

John Morgan et al.

CLINICAL IMAGING (2008)

Article Gastroenterology & Hepatology

AST to platelet ratio index (APRI) for the noninvasive evaluation of liver fibrosis

Aurora Loaeza-del-Castillo et al.

ANNALS OF HEPATOLOGY (2008)

Article Biochemistry & Molecular Biology

Alstrom syndrome

Jan D. Marshall et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2007)

Review Peripheral Vascular Disease

2007 guidelines for the management of arterial hypertension

Giuseppe Mancia et al.

JOURNAL OF HYPERTENSION (2007)

Article Gastroenterology & Hepatology

Sampling variability of liver biopsy in nonalcoholic fatty liver disease

V Ratziu et al.

GASTROENTEROLOGY (2005)

Article Medicine, General & Internal

New Alstrom syndrome phenotypes based on the evaluation of 182 cases

JD Marshall et al.

ARCHIVES OF INTERNAL MEDICINE (2005)

Article Genetics & Heredity

Early-onset liver disease complicated with acute liver failure in Alstrom syndrome

RE Quiros-Tejeira et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2001)