Skip to Content

80 Results Found

  • Communication
  • Open Access
3 Citations
2,507 Views
7 Pages

“Pesto” Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients

  • Alessandro Salina,
  • Marta Bassi,
  • Concetta Aloi,
  • Marina Francesca Strati,
  • Renata Bocciardi,
  • Giuseppe d’Annunzio,
  • Mohamad Maghnie and
  • Nicola Minuto

17 February 2023

Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes mellitus (DM) that accounts for around 2–5% of all types of diabetes. Autosomal dominant inheritance in pathogenic variations of 14 genes related to β-cell functio...

  • Case Report
  • Open Access
2 Citations
2,840 Views
10 Pages

A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing

  • Paola Concolino,
  • Linda Tartaglione,
  • Elisa De Paolis,
  • Cinzia Carrozza,
  • Andrea Urbani,
  • Angelo Minucci,
  • Dario Pitocco and
  • Concetta Santonocito

13 November 2022

Maturity-onset diabetes of the young (MODY) is a rare form of non-autoimmune diabetes with an autosomal dominant inheritance. To date, 14 genes have been reported as genetic basis of MODY. GCK gene, encoding the glucokinase enzyme, was the first MODY...

  • Article
  • Open Access
359 Views
12 Pages

Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding Diabetes

  • Concetta Aloi,
  • Alessandro Salina,
  • Serena Cappato,
  • Nicola Minuto,
  • Giuseppe D’Annunzio,
  • Fabio Gotta,
  • Davide Maggi,
  • Paola Mandich,
  • Laura Musso and
  • Renata Bocciardi

10 February 2026

Background: The most common form of monogenic diabetes is maturity onset diabetes of the young (MODY). This study investigates the molecular basis of MODY type 2 (GCK-MODY) in a group of Italian patients, focusing on the functional characterization o...

  • Case Report
  • Open Access
10 Citations
3,064 Views
7 Pages

NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report

  • Fernanda Iafusco,
  • Giovanna Maione,
  • Cristina Mazzaccara,
  • Francesca Di Candia,
  • Enza Mozzillo,
  • Adriana Franzese and
  • Nadia Tinto

Monogenic diabetes (MD) represents a heterogeneous group of disorders whose most frequent form is maturity-onset diabetes of the young (MODY). MD is predominantly caused by a mutation in a single gene. We report a case of a female patient with suspec...

  • Article
  • Open Access
15 Citations
7,210 Views
16 Pages

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

  • Maria I. Alvelos,
  • Catarina I. Gonçalves,
  • Eduarda Coutinho,
  • Joana T. Almeida,
  • Margarida Bastos,
  • Maria L. Sampaio,
  • Miguel Melo,
  • Sofia Martins,
  • Isabel Dinis and
  • Manuel C. Lemos
  • + 12 authors

20 January 2020

Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of th...

  • Article
  • Open Access
11 Citations
9,022 Views
12 Pages

Dairy Product Consumption Interacts with Glucokinase (GCK) Gene Polymorphisms Associated with Insulin Resistance

  • Marine S. Da Silva,
  • Dominic Chartrand,
  • Marie-Claude Vohl,
  • Olivier Barbier and
  • Iwona Rudkowska

Dairy product intake and a person’s genetic background have been reported to be associated with the risk of type 2 diabetes (T2D). The objective of this study was to examine the interaction between dairy products and genes related to T2D on glucose-i...

  • Article
  • Open Access
11 Citations
4,417 Views
16 Pages

Functional Inactivation of Drosophila GCK Orthologs Causes Genomic Instability and Oxidative Stress in a Fly Model of MODY-2

  • Elisa Mascolo,
  • Francesco Liguori,
  • Lorenzo Stufera Mecarelli,
  • Noemi Amoroso,
  • Chiara Merigliano,
  • Susanna Amadio,
  • Cinzia Volonté,
  • Roberto Contestabile,
  • Angela Tramonti and
  • Fiammetta Vernì

Maturity-onset diabetes of the young (MODY) type 2 is caused by heterozygous inactivating mutations in the gene encoding glucokinase (GCK), a pivotal enzyme for glucose homeostasis. In the pancreas GCK regulates insulin secretion, while in the liver...

  • Article
  • Open Access
7 Citations
3,733 Views
20 Pages

A Comprehensive Analysis of Hungarian MODY Patients—Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases

  • Zsolt Gaál,
  • Zsuzsanna Szűcs,
  • Irén Kántor,
  • Andrea Luczay,
  • Péter Tóth-Heyn,
  • Orsolya Benn,
  • Enikő Felszeghy,
  • Zsuzsanna Karádi,
  • László Madar and
  • István Balogh

30 July 2021

MODY2 is caused by heterozygous inactivating mutations in the glucokinase (GCK) gene that result in persistent, stable and mild fasting hyperglycaemia (5.6–8.0 mmol/L, glycosylated haemoglobin range of 5.6–7.3%). Patients with GCK mutations usually d...

  • Article
  • Open Access
11 Citations
3,363 Views
15 Pages

21 February 2023

Glucokinase-maturity onset diabetes of the young (GCK-MODY) is a kind of rare diabetes with low incidence of vascular complications caused by GCK gene inactivation. This study aimed to investigate the effects of GCK inactivation on hepatic lipid meta...

  • Article
  • Open Access
2,173 Views
19 Pages

10 March 2025

Background/Objectives: Our lab has previously reported that Grifola frondosa (maitake mushroom) GF5000 has antidiabetic potential owing to its ability to improve insulin resistance. This study aimed to gain insight into the system-level hypoglycemic...

  • Review
  • Open Access
2 Citations
2,900 Views
18 Pages

Pregnancy and Neonatal Outcomes in Maturity-Onset Diabetes of the Young: A Systematic Review

  • Franciszek Ługowski,
  • Julia Babińska,
  • Katarzyna Makowska,
  • Artur Ludwin and
  • Paweł Jan Stanirowski

Maturity-onset diabetes of the young (MODY)—a monogenic form of diabetes—accounts for approximately 1–2% of all diabetes cases, with GCK-MODY being the second most commonly diagnosed type. Although the inherited nature of the diseas...

  • Feature Paper
  • Article
  • Open Access
16 Citations
5,142 Views
14 Pages

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients

  • Dinara E. Ivanoshchuk,
  • Elena V. Shakhtshneider,
  • Oksana D. Rymar,
  • Alla K. Ovsyannikova,
  • Svetlana V. Mikhailova,
  • Veniamin S. Fishman,
  • Emil S. Valeev,
  • Pavel S. Orlov and
  • Mikhail I. Voevoda

18 January 2021

Maturity onset diabetes of the young (MODY) is a congenital form of diabetes characterized by onset at a young age and a primary defect in pancreatic-β-cell function. Currently, 14 subtypes of MODY are known, and each is associated with mutation...

  • Article
  • Open Access
7 Citations
4,432 Views
16 Pages

Hyperinsulinemic Hypoglycemia in Three Generations of a Family with Glucokinase Activating Mutation, c.295T>C (p.Trp99Arg)

  • Aleksandra Gilis-Januszewska,
  • Anna Bogusławska,
  • Artur Kowalik,
  • Ewelina Rzepka,
  • Karolina Soczówka,
  • Elwira Przybylik-Mazurek,
  • Bogusław Głowa and
  • Alicja Hubalewska-Dydejczyk

1 October 2021

Familial Hyperinsulinemic Hypoglycemia (FHH) is a very rare disease with heterogeneous clinical manifestations. There are only a few reports of heterozygous activating mutations of glucokinase (GCK) attributable to FHH, with no reports describing eff...

  • Article
  • Open Access
10 Citations
8,927 Views
20 Pages

Differential Expression of Genes Associated with the Progression of Renal Disease in the Kidneys of Liver-Specific Glucokinase Gene Knockout Mice

  • Wei Xu,
  • Hui Li,
  • Rong Wang,
  • Zhen Lei,
  • Yiqing Mao,
  • Xi Wang,
  • Yizhuang Zhang,
  • Tingting Guo,
  • Rongjing Song and
  • Huanran Tan
  • + 5 authors

21 March 2013

Liver glucokinase (GCK) deficient mice possess mild renal complications associated with diabetes. To investigate the progression of kidney disease and identify candidate genes involved in the pathogenesis of renal damage, we examined changes in tissu...

  • Article
  • Open Access
12 Citations
8,097 Views
17 Pages

Role of Glucokinase in the Subcellular Localization of Glucokinase Regulatory Protein

  • Ling Jin,
  • Tingting Guo,
  • Zhixin Li,
  • Zhen Lei,
  • Hui Li,
  • Yiqing Mao,
  • Xi Wang,
  • Na Zhou,
  • Yizhuang Zhang and
  • Huanran Tan
  • + 4 authors

2 April 2015

Glucokinase (GCK) is the rate-limiting enzyme of liver glucose metabolism. Through protein-protein interactions, glucokinase regulatory protein (GCKR) post-transcriptionally regulates GCK function in the liver, and causes its nuclear localization. Ho...

  • Article
  • Open Access
12 Citations
3,857 Views
15 Pages

11 November 2022

To investigate the potential of ginsenosides in treating osteoporosis, ginsenoside compound K (GCK) was selected to explore the potential targets and mechanism based on network pharmacology (NP). Based on text mining from public databases, 206 and 65...

  • Article
  • Open Access
15 Citations
7,348 Views
13 Pages

The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study

  • Asma A. Elashi,
  • Salman M. Toor,
  • Ilhame Diboun,
  • Yasser Al-Sarraj,
  • Shahrad Taheri,
  • Karsten Suhre,
  • Abdul Badi Abou-Samra and
  • Omar M. E. Albagha

21 December 2022

Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes mellitus. In this study, we estimated the prevalence and genetic spectrum of MODY in the Middle Eastern population of Qatar using whole-genome sequencing (WGS) of 14,364...

  • Review
  • Open Access
41 Citations
17,568 Views
23 Pages

Transcriptional Regulation of Glucose Sensors in Pancreatic β-Cells and Liver: An Update

  • Jin-Sik Bae,
  • Tae-Hyun Kim,
  • Mi-Young Kim,
  • Joo-Man Park and
  • Yong-Ho Ahn

19 May 2010

Pancreatic β-cells and the liver play a key role in glucose homeostasis. After a meal or in a state of hyperglycemia, glucose is transported into the β-cells or hepatocytes where it is metabolized. In the β-cells, glucose is metabolized to increase t...

  • Review
  • Open Access
33 Citations
15,947 Views
21 Pages

Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling

  • Dawid Skoczek,
  • Józef Dulak and
  • Neli Kachamakova-Trojanowska

Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous group of monogenic endocrine disorders that is characterised by autosomal dominant inheritance and pancreatic β-cell dysfunction. These patients are commonly misdiagnosed with...

  • Article
  • Open Access
2 Citations
6,994 Views
9 Pages

In Vitro High Throughput Screening, What Next? Lessons from the Screening for Aurora Kinase Inhibitors

  • Thi-My-Nhung Hoang,
  • Hong-Lien Vu,
  • Ly-Thuy-Tram Le,
  • Chi-Hung Nguyen and
  • Annie Molla

27 February 2014

Based on in vitro assays, we performed a High Throughput Screening (HTS) to identify kinase inhibitors among 10,000 small chemical compounds. In this didactic paper, we describe step-by-step the approach to validate the hits as well as the major pitf...

  • Review
  • Open Access
12 Citations
21,576 Views
11 Pages

Diagnosis and Treatment of MODY: An Updated Mini Review

  • Abegail Tshivhase,
  • Tandi Matsha and
  • Shanel Raghubeer

11 October 2021

Maturity-Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes resulting from a single gene mutation. It is characterized by mild hyperglycemia, autosomal dominant inheritance, early onset of diabetes (<25 years), insuli...

  • Review
  • Open Access
8 Citations
4,026 Views
11 Pages

The Challenges of Treating Glucokinase MODY during Pregnancy: A Review of Maternal and Fetal Outcomes

  • Alena Kirzhner,
  • Oren Barak,
  • Edi Vaisbuch,
  • Taiba Zornitzki and
  • Tal Schiller

Background: The optimal treatment strategy for the follow-up and management of women with glucokinase maturity-onset diabetes of the young (GCK−MODY)during pregnancy remains unknown. Data regarding maternal and fetal outcomes are lacking. Aim:...

  • Article
  • Open Access
14 Citations
5,707 Views
16 Pages

Genome-Wide Methylation Mapping Using Nanopore Sequencing Technology Identifies Novel Tumor Suppressor Genes in Hepatocellular Carcinoma

  • Colin F. Davenport,
  • Tobias Scheithauer,
  • Alessia Dunst,
  • Frauke Sophie Bahr,
  • Marie Dorda,
  • Lutz Wiehlmann and
  • Doan Duy Hai Tran

Downregulation of multiple tumor suppressor genes (TSGs) plays an important role in cancer formation. Recent evidence has accumulated that cancer progression involves genome-wide alteration of epigenetic modifications, which may cause downregulation...

  • Article
  • Open Access
1,058 Views
17 Pages

Comprehensive Analysis of the Putative Substratome of FAM20C, the Master Serine Kinase of the Secretory Pathway

  • Luca Cesaro,
  • Francesca Noventa,
  • Trinidad De Los Angeles Cordero,
  • Barbara Molon,
  • Valentina Bosello Travain,
  • Maria Cristina Aspromonte and
  • Mauro Salvi

11 November 2025

FAM20C, previously known as Golgi casein kinase (GCK), is a serine/threonine kinase localized to the Golgi apparatus and classified within the acidophilic kinase family. Its phosphorylation motif is characterized by a glutamic acid residue at the +2...

  • Article
  • Open Access
16 Citations
4,177 Views
18 Pages

Domain 2 of Hepatitis C Virus Protein NS5A Activates Glucokinase and Induces Lipogenesis in Hepatocytes

  • Laure Perrin-Cocon,
  • Cindy Kundlacz,
  • Clémence Jacquemin,
  • Xavier Hanoulle,
  • Anne Aublin-Gex,
  • Marianne Figl,
  • Jeremy Manteca,
  • Patrice André,
  • Pierre-Olivier Vidalain and
  • Olivier Diaz
  • + 1 author

Hepatitis C virus (HCV) relies on cellular lipid metabolism for its replication, and actively modulates lipogenesis and lipid trafficking in infected hepatocytes. This translates into an intracellular accumulation of triglycerides leading to liver st...

  • Article
  • Open Access
15 Citations
3,978 Views
17 Pages

11 April 2023

Background: Insulin resistance (IR) is a major contributing factor to the pathogenesis of metabolic syndrome and type 2 diabetes mellitus (T2D). Adipocyte metabolism is known to play a crucial role in IR. Therefore, the aims of this study were to ide...

  • Article
  • Open Access
9 Citations
4,040 Views
13 Pages

A Comprehensive Analysis of Hungarian MODY Patients—Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes

  • Zsolt Gaál,
  • Zsuzsanna Szűcs,
  • Irén Kántor,
  • Andrea Luczay,
  • Péter Tóth-Heyn,
  • Orsolya Benn,
  • Enikő Felszeghy,
  • Zsuzsanna Karádi,
  • László Madar and
  • István Balogh

27 July 2021

Maturity-onset diabetes of the young (MODY) has about a dozen known causal genes to date, the most common ones being HNF1A, HNF4A, HNF1B and GCK. The phenotype of this clinically and genetically heterogeneous form of diabetes depends on the gene in w...

  • Article
  • Open Access
3 Citations
2,546 Views
22 Pages

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia

  • Ildar R. Minniakhmetov,
  • Rita I. Khusainova,
  • Dmitry N. Laptev,
  • Bulat I. Yalaev,
  • Yulia S. Karpova,
  • Roman V. Deev,
  • Ramil R. Salakhov,
  • Dmitry D. Panteleev,
  • Kirill V. Smirnov and
  • Natalia G. Mokrysheva
  • + 2 authors

Analyzing the genetic architecture of hereditary forms of diabetes in different populations is a critical step toward optimizing diagnostic and preventive algorithms. This requires consideration of regional and population-specific characteristics, in...

  • Article
  • Open Access
3 Citations
2,732 Views
11 Pages

14 February 2023

This study aimed to investigate the effects of perfluorooctanesulfonic acid (PFOS) exposure on glucose-stimulated insulin secretion (GSIS) of rat insulinoma (INS-1) cells and the potential protective effects of procyanidins (PC). The effects of PFOS...

  • Article
  • Open Access
5 Citations
8,924 Views
17 Pages

Resistance Training Improves Beta Cell Glucose Sensing and Survival in Diabetic Models

  • Gabriela Alves Bronczek,
  • Gabriela Moreira Soares,
  • Carine Marmentini,
  • Antonio Carlos Boschero and
  • José Maria Costa-Júnior

21 August 2022

Resistance training increases insulin secretion and beta cell function in healthy mice. Here, we explored the effects of resistance training on beta cell glucose sensing and survival by using in vitro and in vivo diabetic models. A pancreatic beta ce...

  • Article
  • Open Access
13 Citations
4,563 Views
16 Pages

Liquid Biopsy in Type 2 Diabetes Mellitus Management: Building Specific Biosignatures via Machine Learning

  • Makrina Karaglani,
  • Maria Panagopoulou,
  • Christina Cheimonidi,
  • Ioannis Tsamardinos,
  • Efstratios Maltezos,
  • Nikolaos Papanas,
  • Dimitrios Papazoglou,
  • George Mastorakos and
  • Ekaterini Chatzaki

17 February 2022

Background: The need for minimally invasive biomarkers for the early diagnosis of type 2 diabetes (T2DM) prior to the clinical onset and monitoring of β-pancreatic cell loss is emerging. Here, we focused on studying circulating cell-free DNA (ccfDNA)...

  • Article
  • Open Access
15 Citations
5,497 Views
16 Pages

Gymnema sylvestre is traditionally used as an herbal remedy for diabetes. The effect of Gymnema sylvestre supplementation on beta cell and hepatic activity was explored in an alloxan-induced hyperglycemic adult rat. Animals were made hyperglycem...

  • Article
  • Open Access
4 Citations
1,930 Views
9 Pages

The Association between CDKAL1 Gene rs10946398 Polymorphism and Post-Transplant Diabetes in Kidney Allograft Recipients Treated with Tacrolimus

  • Violetta Dziedziejko,
  • Krzysztof Safranow,
  • Mirosława Kijko-Nowak,
  • Jerzy Sieńko,
  • Damian Malinowski,
  • Kamila Szumilas and
  • Andrzej Pawlik

7 August 2023

Post-transplant diabetes mellitus (PTDM) is a common complication that occurs in kidney transplant patients, increasing the risk of infection, cardiovascular disease and loss of graft function. Currently, factors that increase the risk of this compli...

  • Review
  • Open Access
5 Citations
3,949 Views
35 Pages

5 December 2024

Misshapen/NIKs-related kinase (MINK) 1 belongs to the mammalian germinal center kinase (GCK) family. It contains the N-terminal, conserved kinase domain, a coiled-coil region, a proline-rich region, and a GCK, C-terminal domain with the Citron-NIK-Ho...

  • Article
  • Open Access
5 Citations
3,360 Views
13 Pages

Reduced Retinoic Acid Receptor Beta (Rarβ) Affects Pancreatic β-Cell Physiology

  • Anila Khalique,
  • Abdul Khader Mohammed,
  • Nujood Mohammed Al-khadran,
  • Mutaz Al Gharaibeh,
  • Eman Abu-Gharbieh,
  • Waseem El-Huneidi,
  • Nabil Sulaiman and
  • Jalal Taneera

19 July 2022

Various studies have suggested a link between vitamin A (VA), all-trans-retinol, and type 2 diabetes (T2D). However, the functional role/expression of vitamin A receptors (Rarα, β, and γ) in pancreatic β-cells is not clear yet....

  • Article
  • Open Access
3 Citations
1,996 Views
20 Pages

Type 2 diabetes (T2D) is a prevalent chronic disease in the Korean population, influenced by lifestyle, dietary habits, and genetics. This study aimed to identify the effects of food intake and genetic factors on T2D progression in Korean adults usin...

  • Review
  • Open Access
25 Citations
8,579 Views
18 Pages

Aiding Cancer’s “Sweet Tooth”: Role of Hexokinases in Metabolic Reprogramming

  • Zeenat Farooq,
  • Hagar Ismail,
  • Sheraz Ahmad Bhat,
  • Brian T. Layden and
  • Md. Wasim Khan

4 April 2023

Hexokinases (HKs) convert hexose sugars to hexose-6-phosphate, thus trapping them inside cells to meet the synthetic and energetic demands. HKs participate in various standard and altered physiological processes, including cancer, primarily through t...

  • Article
  • Open Access
1 Citations
598 Views
13 Pages

20 December 2025

This study aimed to explore the interplay of technological pedagogical content knowledge of games (TPACK-G) and digital game acceptance among pre-service teachers. The relationships between the components of technological pedagogical content knowledg...

  • Review
  • Open Access
48 Citations
6,725 Views
15 Pages

Physical, chemical, and social environments adversely affect the molecular process and results in cell signal transduction and the subsequent transcription factor dysregulation, leading to impaired gene expression and abnormal protein synthesis. Stre...

  • Article
  • Open Access
932 Views
10 Pages

Study of Expression of MST3 in Myeloid Leukaemia

  • Boro Arthi,
  • Krishnaswamy Sujatha,
  • Sridhar Gopal,
  • Balasubramanian Balamuralikrishnan,
  • Meyyazhagan Arun,
  • Pappuswamy Manikantan,
  • Palanisamy Sampathkumar and
  • Arumugam Vijaya Anand

Myeloid leukaemia (ML) is a cancer that occurs by the accumulation of abnormally multiplied myeloid cells in bone marrow, peripheral blood, and other related tissue. MST3 is a gene of the GCK family that has a role in apoptosis, along with other cell...

  • Review
  • Open Access
16 Citations
4,915 Views
19 Pages

Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes

  • Antonella Marucci,
  • Irene Rutigliano,
  • Grazia Fini,
  • Serena Pezzilli,
  • Claudia Menzaghi,
  • Rosa Di Paola and
  • Vincenzo Trischitta

9 January 2022

Monogenic diabetes is a genetic disorder caused by one or more variations in a single gene. It encompasses a broad spectrum of heterogeneous conditions, including neonatal diabetes, maturity onset diabetes of the young (MODY) and syndromic diabetes,...

  • Review
  • Open Access
1,812 Views
12 Pages

Significant Association Between Glucokinase Regulatory Protein Variants and Genetic and Metabolic Diseases

  • Ke Xu,
  • Peng Chen,
  • Yujing Su,
  • Yanghui Chen,
  • Xiuli Song,
  • Bo Yu and
  • Hong Wang

As next-generation sequencing develops, there are significant associations between glucokinase regulatory protein (GCKR) variants and many diseases, especially metabolic diseases. However, there is a lack of solid descriptions and summaries of how GC...

  • Article
  • Open Access
32 Citations
6,947 Views
16 Pages

Metabolic Reprogramming by 3-Iodothyronamine (T1AM): A New Perspective to Reverse Obesity through Co-Regulation of Sirtuin 4 and 6 Expression

  • Fariba M. Assadi-Porter,
  • Hannah Reiland,
  • Martina Sabatini,
  • Leonardo Lorenzini,
  • Vittoria Carnicelli,
  • Micheal Rogowski,
  • Ebru S. Selen Alpergin,
  • Marco Tonelli,
  • Sandra Ghelardoni and
  • Grazia Chiellini
  • + 2 authors

Obesity is a complex disease associated with environmental and genetic factors. 3-Iodothyronamine (T1AM) has revealed great potential as an effective weight loss drug. We used metabolomics and associated transcriptional gene and protein expression an...

  • Article
  • Open Access
8 Citations
2,945 Views
13 Pages

Deep Resequencing of 9 Candidate Genes Identifies a Role for ARAP1 and IGF2BP2 in Modulating Insulin Secretion Adjusted for Insulin Resistance in Obese Southern Europeans

  • Diego Bailetti,
  • Federica Sentinelli,
  • Sabrina Prudente,
  • Flavia Agata Cimini,
  • Ilaria Barchetta,
  • Maria Totaro,
  • Alessia Di Costanzo,
  • Arcangelo Barbonetti,
  • Frida Leonetti and
  • Marco Giorgio Baroni
  • + 1 author

22 January 2022

Type 2 diabetes is characterized by impairment in insulin secretion, with an established genetic contribution. We aimed to evaluate common and low-frequency (1–5%) variants in nine genes strongly associated with insulin secretion by targeted se...

  • Article
  • Open Access
6 Citations
7,681 Views
13 Pages

Butaphosphan Effects on Glucose Metabolism Involve Insulin Signaling and Depends on Nutritional Plan

  • Maria Amélia Agnes Weiller,
  • Joao Alveiro Alvarado-Rincón,
  • Carolina Bespalhok Jacometo,
  • Carlos Castilho Barros,
  • Izabel Cristina Custódio de Souza,
  • Lucas Teixeira Hax,
  • Thaís Casarin da Silva,
  • Patrícia Mattei,
  • Antônio Amaral Barbosa and
  • Marcio Nunes Corrêa
  • + 5 authors

22 June 2020

Butaphosphan is an organic phosphorus compound used in several species for the prevention of rapid catabolic states, however, the mechanism of action remains unclear. This study aimed at determining the effects of butaphosphan on energy metabolism of...

  • Feature Paper
  • Article
  • Open Access
11 Citations
2,879 Views
16 Pages

Ameliorative Effects of Flavonoids from Platycodon grandiflorus Aerial Parts on Alloxan-Induced Pancreatic Islet Damage in Zebrafish

  • Youn Hee Nam,
  • Eun Bin Kim,
  • Ji Eun Kang,
  • Ju Su Kim,
  • Yukyoung Jeon,
  • Sung Woo Shin,
  • Tong Ho Kang and
  • Jong Hwan Kwak

6 April 2023

Platycodon grandiflorus (balloon flower), used as a food reserve as well as in traditional herbal medicine, is known for its multiple beneficial effects. In particular, this plant is widely used as a vegetable in Republic of Korea. We examined the am...

  • Article
  • Open Access
821 Views
19 Pages

Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes

  • Varsha Rajesh,
  • Dora Evelyn Ibarra,
  • Jing Yang,
  • Haichen Zhang,
  • Amy Barrett,
  • Eleanor G. Kaplan,
  • Amit Kumthekar,
  • Fanny Sunden,
  • Han Sun and
  • Anna L. Gloyn
  • + 8 authors

23 December 2025

Precision medicine starts with a precision diagnosis. Yet up to 80% of cases of monogenic diabetes, a form of diabetes characterized by mutations in a single gene, are either overlooked or misdiagnosed. A genetic test for monogenic diabetes does not...

  • Article
  • Open Access
36 Citations
7,534 Views
13 Pages

Anti-Fatigue Activity of Aqueous Extracts of Sonchus arvensis L. in Exercise Trained Mice

  • Tian Yuan,
  • Di Wu,
  • Keyu Sun,
  • Xintong Tan,
  • Jia Wang,
  • Tong Zhao,
  • Bo Ren,
  • Beita Zhao,
  • Zhigang Liu and
  • Xuebo Liu

25 March 2019

Sonchus arvensis L. is a nutritious vegetable and herbal medicine that is consumed worldwide. The aim of this study was to evaluate the anti-fatigue effects and underlying effects of aqueous extract of Sonchus arvensis L. (SA). Male C57BL/6 mice from...

  • Article
  • Open Access
14 Citations
4,968 Views
15 Pages

Cardiac Transcriptome Analysis Reveals Nr4a1 Mediated Glucose Metabolism Dysregulation in Response to High-Fat Diet

  • Lihui Men,
  • Wenting Hui,
  • Xin Guan,
  • Tongtong Song,
  • Xuan Wang,
  • Siwei Zhang and
  • Xia Chen

29 June 2020

Obesity is associated with an increased risk of developing cardiovascular disease (CVD), with limited alterations in cardiac genomic characteristics known. Cardiac transcriptome analysis was conducted to profile gene signatures in high-fat diet (HFD)...

  • Article
  • Open Access
5 Citations
2,907 Views
11 Pages

The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia

  • Dinara Ivanoshchuk,
  • Elena Shakhtshneider,
  • Svetlana Mikhailova,
  • Alla Ovsyannikova,
  • Oksana Rymar,
  • Emil Valeeva,
  • Pavel Orlov and
  • Mikhail Voevoda

19 January 2023

During differential diagnosis of diabetes mellitus, the greatest difficulties are encountered with young patients because various types of diabetes can manifest themselves in this age group (type 1, type 2, and monogenic types of diabetes mellitus, i...

of 2