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55 Results Found

  • Article
  • Open Access
36 Citations
5,512 Views
9 Pages

TM6SF2 and MBOAT7 Gene Variants in Liver Fibrosis and Cirrhosis

  • Viktorija Basyte-Bacevice,
  • Jurgita Skieceviciene,
  • Irena Valantiene,
  • Jolanta Sumskiene and ,
  • Vitalija Petrenkiene,
  • Jurate Kondrackiene,
  • Dalius Petrauskas,
  • Frank Lammert and
  • Juozas Kupcinskas
  • + 4 authors+ 0 author

Previous large-scale genetic studies identified single nucleotide polymorphisms (SNPs) of the TM6SF2 and MBOAT7 genes as risk factors for alcoholic liver cirrhosis and non-alcoholic fatty liver disease. In this study, we tried to evaluate the associa...

(This article belongs to the Special Issue Recent Advances in Pathophysiology of Fibrosis and Scarring)
  • Case Report
  • Open Access
5 Citations
3,620 Views
8 Pages

Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review

  • Luisa Ronzoni,
  • Matteo Mureddu,
  • Francesco Malvestiti,
  • Vittoria Moretti and ,
  • Cristiana Bianco,
  • Giulia Periti,
  • Margherita Baldassarri,
  • Francesca Ariani,
  • Anna Carrer and
  • Luca Valenti
  • + 8 authors+ 3 authors

16 August 2023

The membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) protein is an acyltransferase catalyzing arachidonic acid incorporation into lysophosphatidylinositol. Patients with rare, biallelic loss-of-function variants of the MBOAT7 gene displa...

(This article belongs to the Collection Genetics and Genomics of Rare Disorders)
  • Article
  • Open Access
9 Citations
2,918 Views
13 Pages

Polymorphism’s MBOAT7 as Risk and MTARC1 as Protection for Liver Fibrosis in MASLD

  • Sofia Rocha,
  • Claudia P. Oliveira,
  • José Tadeu Stefano,
  • Roberta P. Yokogawa and ,
  • Michele Gomes-Gouvea,
  • Patricia Momoyo Youshimura Zitelli,
  • Joyce Matie Kinoshita Silva-Etto,
  • Eduarda Donegá Martins,
  • Mario G. Pessoa and
  • João Renato Rebello Pinho
  • + 7 authors+ 2 authors

Previous large-scale genetic studies identified single-nucleotide polymorphisms (SNPs) of the membrane bound O-acyltransferase domain containing 7 (MBOAT7) and patatin-like phospholipase domain containing 3 (PNPLA3) genes as risk factors for metaboli...

(This article belongs to the Special Issue Exploring the Complex Interplay Between Metabolic Diseases, MASLD, and Liver Cancer)
  • Article
  • Open Access
1,404 Views
15 Pages

Metabolic dysfunction-associated steatotic liver disease (MASLD) is increasingly recognized during adolescence and exhibits sex-specific characteristics. Its prevalence in late adolescent females is around 10% in the general population and exceeds 30...

(This article belongs to the Special Issue Pediatric Diseases: From Molecular Mechanisms to Novel Therapeutic Strategies)
  • Article
  • Open Access
7 Citations
2,624 Views
15 Pages

Circ-MBOAT2 Regulates Angiogenesis via the miR-495/NOTCH1 Axis and Associates with Myocardial Perfusion in Patients with Coronary Chronic Total Occlusion

  • Wei Gao,
  • Chenguang Li,
  • Jie Yuan,
  • Youming Zhang and ,
  • Guobing Liu,
  • Jianhui Zhang,
  • Hongcheng Shi,
  • Haibo Liu and
  • Junbo Ge
  • + 4 authors+ 0 author

Revascularization of coronary chronic total occlusion (CTO) still remains controversial. The factors that impact collateral circulation and myocardial perfusion are of interest. Circular RNA (circRNA) has been shown to regulate the process of angioge...

(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
  • Article
  • Open Access
6 Citations
3,505 Views
15 Pages

Circadian Genes MBOAT2/CDA/LPCAT2/B4GALT5 in the Metabolic Pathway Serve as New Biomarkers of PACA Prognosis and Immune Infiltration

  • Qingqing Wang,
  • Shuning Zhou,
  • Xinyi Hu,
  • Xianggang Wang and ,
  • Xue Wu,
  • Ziyou Huai,
  • Yu Gao and
  • Shujing Li
  • + 3 authors+ 0 author

30 April 2023

Pancreatic cancer (PACA) is a highly malignant tumor with a poor prognosis. Recent studies have discovered substantial differences in the expression levels of several circadian genes in PACA samples compared to normal samples. The goal of this resear...

(This article belongs to the Section Physiology and Pathology)
  • Article
  • Open Access
7 Citations
4,901 Views
18 Pages

In Search of Small Molecules That Selectively Inhibit MBOAT4

  • Emily S. Murzinski,
  • Ishika Saha,
  • Hui Ding,
  • David Strugatsky and ,
  • Ryan A. Hollibaugh,
  • Haixia Liu,
  • Peter Tontonoz and
  • Patrick G. Harran
  • + 3 authors+ 0 author

15 December 2021

Ghrelin is a 28-residue peptide hormone produced by stomach P/D1 cells located in oxyntic glands of the fundus mucosa. Post-translational octanoylation of its Ser-3 residue, catalyzed by MBOAT4 (aka ghrelin O-acyl transferase (GOAT)), is essential fo...

(This article belongs to the Special Issue Heterocyclic and Organometallic Chemistry: Theme Issue in Honor of Prof. Daniel Comins’ Great Contribution)
  • Article
  • Open Access
9 Citations
3,594 Views
17 Pages

Hyperbaric Oxygen Improves Cognitive Impairment Induced by Hypoxia via Upregulating the Expression of Oleic Acid and MBOAT2 of Mice

  • Zhen Li,
  • Jun Fu,
  • Kaiyuan Jiang,
  • Jie Gao and ,
  • Yuejun Guo,
  • Chen Li,
  • Liangcai Zhao,
  • Jutaek Nam and
  • Hongchang Gao
  • + 4 authors+ 0 author

29 October 2024

Cognitive impairment (CI) causes severe impairment of brain function and quality of life of patients, which brings a great burden to society. Cerebral hypoxia is an important factor in the pathogenesis of CI. Hyperbaric oxygen (HBO) therapy may mitig...

  • Article
  • Open Access
3 Citations
2,397 Views
15 Pages

Contribution of PNPLA3, GCKR, MBOAT7, NCAN, and TM6SF2 Genetic Variants to Hepatocellular Carcinoma Development in Mexican Patients

  • Alejandro Arreola Cruz,
  • Juan Carlos Navarro Hernández,
  • Laura Estela Cisneros Garza,
  • Antonio Miranda Duarte and ,
  • Viviana Leticia Mata Tijerina,
  • Magda Elizabeth Hernández Garcia,
  • Katia Peñuelas-Urquides,
  • Laura Adiene González-Escalante,
  • Mario Bermúdez de León and
  • Beatriz Silva Ramirez
  • + 5 authors+ 0 author

Hepatocellular carcinoma (HCC) is the most prevalent subtype of liver cancer with an increasing incidence worldwide. Single nucleotide polymorphisms (SNPs) may influence disease risk and serve as predictive markers. This study aimed to evaluate the a...

(This article belongs to the Special Issue Exploring the Complex Interplay Between Metabolic Diseases, MASLD, and Liver Cancer)
  • Review
  • Open Access
10 Citations
4,695 Views
14 Pages

20 December 2023

Non-alcoholic fatty liver disease (NAFLD) is a common and prevalent disorder affecting 25 percent of the adults in the United States and 32 percent of adults globally. It is one of the common causes of chronic liver disease characterized by steatosis...

(This article belongs to the Special Issue Liver Fibrosis: Mechanisms, Targets, Assessment and Treatment)
  • Article
  • Open Access
1 Citations
3,630 Views
14 Pages

Genetic Variants Determine Treatment Response in Autoimmune Hepatitis

  • Stephan Zandanell,
  • Lorenz Balcar,
  • Georg Semmler,
  • Alex Schirmer and ,
  • Isabella Leitner,
  • Lea Rosenstatter,
  • David Niederseer,
  • Karl Sotlar,
  • Anna-Maria Schneider and
  • Elmar Aigner
  • + 9 authors+ 4 authors

17 March 2023

Background: Autoimmune hepatitis (AIH) is a rare entity; in addition, single-nucleotide polymorphisms (SNPs) may impact its course and outcome. We investigated liver-related SNPs regarding its activity, as well as in relation to its stage and treatme...

(This article belongs to the Section Mechanisms of Diseases)
  • Article
  • Open Access
12 Citations
5,541 Views
8 Pages

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

  • Maria Asif,
  • Maryam Anayat,
  • Faiza Tariq,
  • Tanzeela Noureen and ,
  • Ghulam Naseer Ud Din,
  • Christian Becker,
  • Kerstin Becker,
  • Holger Thiele,
  • Ehtisham ul Haq Makhdoom and
  • Uzma Abdullah
  • + 10 authors+ 5 authors

23 December 2022

Intellectual disability (ID) is a condition of significant limitation of cognitive functioning and adaptive behavior, with 50% of etiology attributed to genetic predisposition. We recruited two consanguineous Pakistani families manifesting severe ID...

(This article belongs to the Special Issue Genetics of Complex Human Disease)
  • Article
  • Open Access
8 Citations
3,271 Views
14 Pages

Influence of Genetic Variants on Disease Regression and Outcomes in HCV-Related Advanced Chronic Liver Disease after SVR

  • Georg Semmler,
  • Teresa Binter,
  • Karin Kozbial,
  • Philipp Schwabl and ,
  • David Chromy,
  • David Bauer,
  • Benedikt Simbrunner,
  • Theresa Müllner-Bucsics,
  • Bernhard Scheiner and
  • Mattias Mandorfer
  • + 11 authors+ 6 authors

7 April 2021

Genetic variants including PNPLA3-rs738409 C>G, TM6SF2-rs58542926 C>T, MBOAT7-rs641738 C>T, and HSD17B13-rs72613567 T>TA have been shown to influence progression to advanced chronic liver disease (ACLD) in patients with chronic hepatitis...

  • Article
  • Open Access
14 Citations
3,921 Views
11 Pages

Metabolic Syndrome but Not Fatty Liver-Associated Genetic Variants Correlates with Glomerular Renal Function Decline in Patients with Non-Alcoholic Fatty Liver Disease

  • Francesco Baratta,
  • Laura D’Erasmo,
  • Alessia Di Costanzo,
  • Ilaria Umbro and ,
  • Daniele Pastori,
  • Francesco Angelico and
  • Maria Del Ben
  • + 2 authors+ 0 author

The association between non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD) has been extensively demonstrated. Recent studies have focused attention on the role of patatin-like phospholipase domain-containing 3 (PNPLA3) rs73840...

(This article belongs to the Special Issue Chronic Kidney and Liver Disease: From Pathophysiology to Novel Therapeutic Approaches)
  • Review
  • Open Access
9 Citations
2,246 Views
13 Pages

Genetic Predisposition to MASLD: Potential for Therapeutic Management

  • Fani Karapanagiotidi,
  • Chrysoula Boutari and
  • Emmanouil Sinakos

18 February 2026

Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) is now the most common liver disease worldwide, with a continuously increasing prevalence. The mechanisms involved in its pathophysiology are numerous and may include metabolic, environ...

(This article belongs to the Special Issue Current and Emerging Therapeutic Approaches for MASLD)
  • Article
  • Open Access
4 Citations
2,972 Views
11 Pages

TM6SF2-rs58542926 Genetic Variant Modifies the Protective Effect of a “Prudent” Dietary Pattern on Serum Triglyceride Levels

  • Ioanna Panagiota Kalafati,
  • Maria Dimitriou,
  • Konstantinos Revenas,
  • Alexander Kokkinos and ,
  • Panos Deloukas and
  • George V. Dedoussis
  • + 1 author+ 0 author

23 February 2023

The epidemic prevalence of non-alcoholic fatty liver disease (NAFLD), despite extensive research in the field, underlines the importance of focusing on personalized therapeutic approaches. However, nutrigenetic effects on NAFLD are poorly investigate...

(This article belongs to the Special Issue Nutrigenetics, Nutrigenomics, and Precision Nutrition in Complex Diseases)
  • Review
  • Open Access
6 Citations
2,163 Views
19 Pages

18 December 2025

Prostate cancer remains a leading cause of cancer-related mortality and castration-resistant prostate cancer (CRPC) is a critical therapeutic challenge. This review establishes a conceptual framework analyzing ferroptosis vulnerability through two pr...

(This article belongs to the Section Health Outcomes of Antioxidants and Oxidative Stress)
  • Article
  • Open Access
33 Citations
4,415 Views
15 Pages

Lactobacillus salivarius SNK-6 Regulates Liver Lipid Metabolism Partly via the miR-130a-5p/MBOAT2 Pathway in a NAFLD Model of Laying Hens

  • Lihui Zhu,
  • Rongrong Liao,
  • Jiwen Huang,
  • Changfeng Xiao and ,
  • Yunzhou Yang,
  • Huiying Wang,
  • Daqian He,
  • Huaxiang Yan and
  • Changsuo Yang
  • + 4 authors+ 0 author

19 December 2022

Lactobacillus spp., as probiotics, have shown efficacy in alleviating nonalcoholic fatty liver disease (NAFLD). Here, we screened a new probiotic strain, Lactobacillus salivarius SNK-6 (L. salivarius SNK-6), which was isolated from the ileum of healt...

(This article belongs to the Section Cell Signaling)
  • Article
  • Open Access
22 Citations
3,672 Views
14 Pages

Metabolic-Associated Fatty Liver Disease, Hepatitis B Surface Antigen Seroclearance, and Long-Term Risk of Hepatocellular Carcinoma in Chronic Hepatitis B

  • Ming-Whei Yu,
  • Chih-Lin Lin,
  • Chun-Jen Liu,
  • Wan-Jung Wu and ,
  • Jui-Ting Hu and
  • Yi-Wen Huang
  • + 1 author+ 0 author

6 December 2022

The value of metabolic-associated fatty liver disease (MAFLD) and its ability to assess hepatocellular carcinoma (HCC) risk remains uncertain for chronic hepatitis B (CHB). We evaluated the impacts of MAFLD and its coincidental metabolic abnormalitie...

(This article belongs to the Section Infectious Agents and Cancer)
  • Review
  • Open Access
120 Citations
10,916 Views
24 Pages

miRNA Signature in NAFLD: A Turning Point for a Non-Invasive Diagnosis

  • Paola Dongiovanni,
  • Marica Meroni,
  • Miriam Longo,
  • Silvia Fargion and
  • Anna Ludovica Fracanzani

10 December 2018

Nonalcoholic fatty liver disease (NAFLD) defines a wide pathological spectrum ranging from simple steatosis to nonalcoholic steatohepatitis (NASH) which may predispose to liver cirrhosis and hepatocellular carcinoma. It represents the leading cause o...

(This article belongs to the Special Issue Pathophysiological and Molecular Mechanisms in Non-alcoholic Fatty Liver Disease)
  • Review
  • Open Access
100 Citations
8,755 Views
21 Pages

Genetic and Epigenetic Modifiers of Alcoholic Liver Disease

  • Marica Meroni,
  • Miriam Longo,
  • Raffaela Rametta and
  • Paola Dongiovanni

3 December 2018

Alcoholic liver disease (ALD), a disorder caused by excessive alcohol consumption is a global health issue. More than two billion people consume alcohol in the world and about 75 million are classified as having alcohol disorders. ALD embraces a wide...

(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
  • Article
  • Open Access
16 Citations
5,297 Views
12 Pages

Genetic Susceptibility to Chronic Liver Disease in Individuals from Pakistan

  • Asad Mehmood Raja,
  • Ester Ciociola,
  • Imran Nazir Ahmad,
  • Faisal Saud Dar and ,
  • Syed Muhammad Saqlan Naqvi,
  • Muhammad Moaeen-ud-Din,
  • Ghazala Kaukab Raja,
  • Stefano Romeo and
  • Rosellina Margherita Mancina
  • + 4 authors+ 0 author

Chronic liver disease, with viral or non-viral etiology, is endemic in many countries and is a growing burden in Asia. Among the Asian countries, Pakistan has the highest prevalence of chronic liver disease. Despite this, the genetic susceptibility t...

(This article belongs to the Collection Feature Papers in Molecular Genetics and Genomics)
  • Article
  • Open Access
6 Citations
1,850 Views
26 Pages

A Defective Circulating Mitochondrial Bioenergetics Profile Reflects the Hepatic One and Outlines Genetic MASLD

  • Erika Paolini,
  • Miriam Longo,
  • Marica Meroni,
  • Paola Podini and ,
  • Marco Maggioni,
  • Angelo Quattrini,
  • Anna Ludovica Fracanzani and
  • Paola Dongiovanni
  • + 3 authors+ 0 author

Genetics and mitochondrial (mt) dysfunction contribute to metabolic dysfunction-associated steatotic liver disease (MASLD). Recently, we demonstrated that the co-presence of PNPLA3, TM6SF2 and MBOAT7 polymorphisms predisposes to disease progression i...

(This article belongs to the Special Issue Oxidative Stress and Liver Disease)
  • Article
  • Open Access
2 Citations
2,121 Views
20 Pages

Genetic Variants, Metabolic Dysfunction-Associated Fatty Liver Disease, and Major Health Outcomes in Older Adults

  • Daniel Clayton-Chubb,
  • Ammar Majeed,
  • William W. Kemp,
  • Chenglong Yu and ,
  • Peter W. Lange,
  • Jessica A. Fitzpatrick,
  • Robyn L. Woods,
  • Andrew M. Tonkin,
  • Andrew T. Chan and
  • Stuart K. Roberts
  • + 11 authors+ 6 authors

Background and Aims: Multiple genetic variants have been associated with disease prevalence and outcomes in middle-aged people with metabolic dysfunction-associated fatty liver disease (MAFLD). However, genetic studies in older adults have been lacki...

(This article belongs to the Special Issue Advances in Hepatology)
  • Article
  • Open Access
10 Citations
3,729 Views
16 Pages

Evaluation of Human Hepatocyte Drug Metabolism Carrying High-Risk or Protection-Associated Liver Disease Genetic Variants

  • Lanuza A. P. Faccioli,
  • Zeliha Cetin,
  • Zehra N. Kocas-Kilicarslan,
  • Kimberly Ortiz and ,
  • Yiyue Sun,
  • Zhiping Hu,
  • Takeshi Kurihara,
  • Edgar N. Tafaleng,
  • Rodrigo M. Florentino and
  • Alejandro Soto-Gutierrez
  • + 13 authors+ 8 authors

29 August 2023

Metabolic-dysfunction-associated steatotic liver disease (MASLD), which affects 30 million people in the US and is anticipated to reach over 100 million by 2030, places a significant financial strain on the healthcare system. There is presently no FD...

(This article belongs to the Section Molecular Pharmacology)
  • Article
  • Open Access
41 Citations
4,680 Views
11 Pages

Nonalcoholic Fatty Liver Disease (NAFLD), But not Its Susceptibility Gene Variants, Influences the Decrease of Kidney Function in Overweight/Obese Children

  • Alessia Di Costanzo,
  • Lucia Pacifico,
  • Laura D’Erasmo,
  • Luca Polito and ,
  • Michele Di Martino,
  • Francesco Massimo Perla,
  • Ludovica Iezzi,
  • Claudio Chiesa and
  • Marcello Arca
  • + 4 authors+ 0 author

9 September 2019

Nonalcoholic fatty liver disease (NAFLD) is associated with an increased risk of kidney disease in adults and children. However, it is uncertain whether this association is influenced by major NAFLD susceptibility genes. In a sample of 230 overweight...

(This article belongs to the Special Issue Molecular Research on Obesity and Metabolic Diseases)
  • Article
  • Open Access
7 Citations
1,965 Views
11 Pages

Early Insights from Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Patients: An Observational Study on Polygenic Risk and Liver Biomarkers

  • Pietro Torre,
  • Benedetta Maria Motta,
  • Tommaso Sarcina,
  • Mariano Festa and ,
  • Mario Masarone and
  • Marcello Persico
  • + 1 author+ 0 author

29 August 2025

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing public health concern influenced by both genetic and metabolic factors. Polygenic risk scores (PRSs), which combine the effects of known single-nucleotide polymorphisms (SN...

(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases: 2nd Edition)
  • Review
  • Open Access
45 Citations
6,602 Views
20 Pages

The Burden of Hepatocellular Carcinoma in Non-Alcoholic Fatty Liver Disease: Screening Issue and Future Perspectives

  • Grazia Pennisi,
  • Ciro Celsa,
  • Antonina Giammanco,
  • Federica Spatola and
  • Salvatore Petta

9 November 2019

In recent decades, non-alcoholic fatty liver disease (NAFLD) has become the most common liver disease in the Western world, and the occurrence of its complications, such as hepatocellular carcinoma (HCC), has rapidly increased. Obesity and diabetes a...

(This article belongs to the Special Issue Pathophysiological and Molecular Mechanisms in Non-alcoholic Fatty Liver Disease)
  • Review
  • Open Access
35 Citations
8,053 Views
13 Pages

Novel Insights into the Genetic Landscape of Nonalcoholic Fatty Liver Disease

  • Alice Emma Taliento,
  • Marcello Dallio,
  • Alessandro Federico,
  • Daniele Prati and
  • Luca Valenti

Nonalcoholic fatty liver disease (NAFLD), the most common liver disorder worldwide, is epidemiologically associated with overweight, insulin resistance features and type 2 diabetes, and can progress to advanced liver fibrosis and hepatocellular carci...

(This article belongs to the Special Issue Non-Alcoholic Fatty Liver Disease, from Pathogenesis to the Treatment Strategies: An Ever-changing World)
  • Article
  • Open Access
1 Citations
1,269 Views
16 Pages

Oleic Acid Improves Goat Sperm Quality by Enhancing the MBOAT2/ACSL3 Pathway to Attenuate Ferroptosis

  • Wen Bi,
  • Zhendong Zhu,
  • Adedeji O. Adetunji,
  • Shengyan Zhao and ,
  • Dongping Ma,
  • Xin Kou and
  • Lingjiang Min
  • + 2 authors+ 0 author

10 November 2025

Goat artificial insemination has become an indispensable tool for improving reproductive outcomes by enabling more precise control over genetic transmission [...]

(This article belongs to the Section Animal Reproduction)
  • Article
  • Open Access
4 Citations
3,820 Views
12 Pages

Syringohydromyelia in Dogs: The Genomic Component Underlying a Complex Neurological Disease

  • Sandra Andrino,
  • Valentina Lorenzo,
  • Susana Dunner,
  • Elisabeth Contreras and ,
  • Javier Cañón and
  • Natalia Sevane
  • + 1 author+ 0 author

29 September 2022

Syringohydromyelia (SHM) is a neurological disorder characterized by the appearance of fluid-containing cavities within the spinal cord. Although SHM is thought to be under multigenic control, the molecular basis of this disease remains poorly define...

(This article belongs to the Section Animal Genetics and Genomics)
  • Feature Paper
  • Review
  • Open Access
23 Citations
8,753 Views
12 Pages

Is HSD17B13 Genetic Variant a Protector for Liver Dysfunction? Future Perspective as a Potential Therapeutic Target

  • Takashi Motomura,
  • Sriram Amirneni,
  • Ricardo Diaz-Aragon,
  • Lanuza A. P. Faccioli and ,
  • Michelle R. Malizio,
  • Michael C. Coard,
  • Zehra N. Kocas-Kilicarslan,
  • Carla Frau,
  • Nils Haep and
  • Alejandro Soto-Gutierrez
  • + 7 authors+ 2 authors

30 June 2021

As diet and lifestyle have changed, fatty liver disease (FLD) has become more and more prevalent. Many genetic risk factors, such as variants of PNPLA3, TM6SF2, GCKR, and MBOAT7, have previously been uncovered via genome wide association studies (GWA...

(This article belongs to the Special Issue Personalized Medicine for Liver Disease: From Molecular Mechanisms to Potential Targeted Therapies)
  • Article
  • Open Access
6 Citations
4,865 Views
22 Pages

20 July 2023

Despite playing a key role in digestion, there is only a broad characterization of the spatiotemporal development of the three glandular regions of the stomach (cardiac, fundic and pyloric) in the weaned pig. Hence, the objective of this experiment w...

  • Review
  • Open Access
64 Citations
8,556 Views
32 Pages

Genetics Is of the Essence to Face NAFLD

  • Marica Meroni,
  • Miriam Longo,
  • Giada Tria and
  • Paola Dongiovanni

30 September 2021

Nonalcoholic fatty liver disease (NAFLD) is the commonest cause of chronic liver disease worldwide. It is closely related to obesity, insulin resistance (IR) and dyslipidemia so much so it is considered the hepatic manifestation of the Metabolic Synd...

(This article belongs to the Special Issue New Challenges in the Study of Liver Diseases: From Molecular Pathogenesis to Therapeutic Approaches)
  • Article
  • Open Access
6 Citations
3,444 Views
14 Pages

Plasma Metabolite Signatures in Male Carriers of Genetic Variants Associated with Non-Alcoholic Fatty Liver Disease

  • Lilian Fernandes Silva,
  • Jagadish Vangipurapu,
  • Anniina Oravilahti,
  • Ville Männistö and
  • Markku Laakso

13 February 2023

Both genetic and non-genetic factors are important in the pathophysiology of non-alcoholic fatty liver disease (NAFLD). The aim of our study was to identify novel metabolites and pathways associated with NAFLD by including both genetic and non-geneti...

  • Review
  • Open Access
22 Citations
4,957 Views
21 Pages

Polygenic Risk Score for Metabolic Dysfunction-Associated Steatotic Liver Disease and Steatohepatitis: A Narrative Review

  • Tatsuo Kanda,
  • Reina Sasaki-Tanaka,
  • Hiroyuki Abe,
  • Naruhiro Kimura and ,
  • Tomoaki Yoshida,
  • Kazunao Hayashi,
  • Akira Sakamaki,
  • Takeshi Yokoo,
  • Hiroteru Kamimura and
  • Shuji Terai
  • + 7 authors+ 2 authors

Metabolic dysfunction-associated steatotic liver disease (MASLD) and metabolic dysfunction-associated steatohepatitis (MASH) are spreading worldwide as the most critical causes of cirrhosis and hepatocellular carcinoma (HCC). Thus, improving the scre...

(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
  • Review
  • Open Access
139 Citations
11,984 Views
11 Pages

Genetic and Epigenetic Regulation in Nonalcoholic Fatty Liver Disease (NAFLD)

  • José A Del Campo,
  • Rocío Gallego-Durán,
  • Paloma Gallego and
  • Lourdes Grande

Genetics and epigenetics play a key role in the development of several diseases, including nonalcoholic fatty liver disease (NAFLD). Family studies demonstrate that first degree relatives of patients with NAFLD are at a much higher risk of the diseas...

(This article belongs to the Special Issue Transcriptional Regulation in Lipid Metabolism)
  • Article
  • Open Access
1 Citations
2,580 Views
17 Pages

A Modular Customizable Ligand-Conjugate (LC) System Targeting Ghrelin O-Acyltransferase

  • Amber L. Ford,
  • Caine W. Taft,
  • Andrea M. Sprague-Getsy,
  • Gracie C. Carlson and ,
  • Nilamber A. Mate,
  • Michelle A. Sieburg,
  • John D. Chisholm and
  • James L. Hougland
  • + 3 authors+ 0 author

1 February 2025

Ghrelin is a 28 amino acid peptide hormone that impacts a wide range of biological processes, including appetite regulation, glucose metabolism, growth hormone regulation, and cognitive function. To bind and activate its cognate receptor, ghrelin mus...

(This article belongs to the Special Issue Feature Papers in Cellular Biochemistry)
  • Article
  • Open Access
2 Citations
2,946 Views
15 Pages

Prenatal Exposure to Metabolism-Disrupting Chemicals, Cord Blood Transcriptome Perturbations, and Birth Weight in a Belgian Birth Cohort

  • Anran Cai,
  • Lützen Portengen,
  • Gökhan Ertaylan,
  • Juliette Legler and ,
  • Roel Vermeulen,
  • Virissa Lenters and
  • Sylvie Remy
  • + 2 authors+ 0 author

Prenatal exposure to metabolism-disrupting chemicals (MDCs) has been linked to birth weight, but the molecular mechanisms remain largely unknown. In this study, we investigated gene expressions and biological pathways underlying the associations betw...

(This article belongs to the Special Issue Metabolism Disrupting Chemicals: Screening, Testing and Molecular Pathway Identification)
  • Review
  • Open Access
9 Citations
3,510 Views
16 Pages

Genomic Signatures of MASLD: How Genomics Is Redefining Our Understanding of Metabolic Liver Disease

  • Peter Saliba-Gustafsson,
  • Jennifer Härdfeldt,
  • Matteo Pedrelli and
  • Paolo Parini

10 November 2025

Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most prevalent chronic liver condition globally, driven by strong genetic and environmental components. This review summarizes recent advances in understanding the genetic archit...

(This article belongs to the Special Issue New Insights into Liver Biology and Disease Pathogenesis: Shedding Light on Novel Diagnostic and Therapeutic Approaches)
  • Review
  • Open Access
29 Citations
5,366 Views
15 Pages

Gene Variants Implicated in Steatotic Liver Disease: Opportunities for Diagnostics and Therapeutics

  • Gary Huang,
  • Daniel F. Wallace,
  • Elizabeth E. Powell,
  • Tony Rahman and ,
  • Paul J. Clark and
  • V. Nathan Subramaniam
  • + 1 author+ 0 author

Non-alcoholic fatty liver disease (NAFLD) describes a steatotic (or fatty) liver occurring as a consequence of a combination of metabolic, environmental, and genetic factors, in the absence of significant alcohol consumption and other liver diseases....

(This article belongs to the Special Issue 10th Anniversary of Biomedicines—NAFLD: From Mechanisms to Therapeutic Approaches)
  • Article
  • Open Access
17 Citations
7,820 Views
13 Pages

Assessment of Lifestyle Factors Helps to Identify Liver Fibrosis Due to Non-Alcoholic Fatty Liver Disease in Obesity

  • Mari Lahelma,
  • Panu K. Luukkonen,
  • Sami Qadri,
  • Noora Ahlholm and ,
  • Susanna Lallukka-Brück,
  • Kimmo Porthan,
  • Anne Juuti,
  • Henna Sammalkorpi,
  • Anne K. Penttilä and
  • Hannele Yki-Järvinen
  • + 7 authors+ 2 authors

8 January 2021

Only some individuals with obesity develop liver fibrosis due to non-alcoholic fatty liver disease (NAFLD-fibrosis). We determined whether detailed assessment of lifestyle factors in addition to physical, biochemical and genetic factors helps in iden...

(This article belongs to the Section Nutrition and Metabolism)
  • Article
  • Open Access
12 Citations
5,641 Views
17 Pages

17 November 2021

Hypoglycemia has been recognized as a risk factor for diabetic vascular complications and cognitive decline, but the molecular mechanisms of the effect of hypoglycemia on target organs are not fully understood. In this work, gene networks of hypoglyc...

(This article belongs to the Section Molecular Endocrinology and Metabolism)
  • Article
  • Open Access
1 Citations
1,912 Views
17 Pages

Multi-Omics Insights into Postnatal Skeletal Muscle Development in Duroc Pigs

  • Kaiming Wang,
  • Xin Li,
  • Xibing Liu,
  • Sui Liufu and ,
  • Lanlin Xiao,
  • Bohe Chen,
  • Wenwu Chen,
  • Jun Jiang,
  • Yan Liu and
  • Haiming Ma
  • + 5 authors+ 0 author

16 September 2025

Skeletal muscles, accounting for 40% of mammalian body mass, exhibit pronounced heterogeneity due to their distinct anatomical locations. Animal husbandry has focused excessively on longissimus dorsi (LDM) development while neglecting other muscles....

(This article belongs to the Topic Advances in Molecular Genetics and Breeding of Cattle, Sheep, and Goats)
  • Systematic Review
  • Open Access
10 Citations
5,886 Views
24 Pages

1 August 2024

Metabolic and bariatric surgery (MBS) effectively treats obesity and related comorbidities, though individual responses vary. This systematic review examines how genetic variants influence MBS outcomes in morbidly obese patients. A comprehensive sear...

(This article belongs to the Section Nutrition and Obesity)
  • Article
  • Open Access
14 Citations
4,493 Views
13 Pages

MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery

  • Piotr Kalinowski,
  • Wiktor Smyk,
  • Małgorzata Nowosad,
  • Rafał Paluszkiewicz and ,
  • Łukasz Michałowski,
  • Bogna Ziarkiewicz-Wróblewska,
  • Susanne N. Weber,
  • Piotr Milkiewicz,
  • Frank Lammert and
  • Marcin Krawczyk
  • + 6 authors+ 1 author

13 December 2022

The severity of hepatic steatosis is modulated by genetic variants, such as patatin-like phospholipase domain containing 3 (PNPLA3) rs738409, transmembrane 6 superfamily member 2 (TM6SF2) rs58542926, and membrane-bound O-acyltransferase domain contai...

(This article belongs to the Special Issue Molecular Mechanism of Chronic Viral and Non-viral Liver Diseases)
  • Review
  • Open Access
3 Citations
4,237 Views
17 Pages

Genetic Variants in Liver Cirrhosis: Classifications, Mechanisms, and Implications for Clinical Practice

  • Roshni Pushpa Raghavan,
  • Kirti Theresa Alexander,
  • Shine Sadasivan,
  • Chetan Parmar and
  • Manikandan Kathirvel

5 January 2026

Background: Cirrhosis represents the final common pathway of chronic liver injury, arising from diverse etiologies such as metabolic, viral, autoimmune, and alcohol-related liver diseases. Despite similar exposures, disease progression varies conside...

(This article belongs to the Special Issue Liver Diseases: Diagnosis and Treatment in the Era of Personalized Medicine)
  • Review
  • Open Access
54 Citations
8,311 Views
15 Pages

Pathology and Pathogenesis of Metabolic Dysfunction-Associated Steatotic Liver Disease-Associated Hepatic Tumors

  • Yoshihisa Takahashi,
  • Erdenetsogt Dungubat,
  • Hiroyuki Kusano and
  • Toshio Fukusato

Nonalcoholic fatty liver disease (NAFLD) is characterized by excessive fat accumulation in the livers of patients without a history of alcohol abuse. It is classified as either simple steatosis (nonalcoholic fatty liver) or nonalcoholic steatohepatit...

(This article belongs to the Special Issue NASH and Hepatocellular Carcinoma (HCC))
  • Review
  • Open Access
12 Citations
6,024 Views
33 Pages

10 January 2024

Cardiometabolic disease (CMD), which encompasses metabolic-associated fatty liver disease (MAFLD), chronic kidney disease (CKD) and cardiovascular disease (CVD), has been increasing considerably in the past 50 years. CMD is a complex disease that can...

(This article belongs to the Section Health Outcomes of Antioxidants and Oxidative Stress)
  • Article
  • Open Access
416 Views
20 Pages

Genomic Diversity and Footprints of Selection in Hamdani Sheep

  • Ebru Demir,
  • Francesco Perini,
  • Eymen Demir,
  • Emiliano Lasagna and ,
  • Ümit Bilginer,
  • Sarp Kaya,
  • Beste Göneci Fidan,
  • Sezai Alkan,
  • Taki Karslı and
  • Bahar Argun Karslı
  • + 5 authors+ 0 author

16 September 2026

This study aimed to characterize the genomic diversity, population structure, and candidate regions consistent with selection in Hamdani (HAM) sheep using high-density SNP generated by double-digest restriction site-associated DNA sequencing (ddRADse...

(This article belongs to the Special Issue Animal Genetic Resources and Characterization of Populations)

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