Cargando…

Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi–Bickel Syndrome

Fanconi–Bickel Syndrome (FBS) is a rare disorder of carbohydrate metabolism that is characterized by the accumulation of glycogen mainly in the liver. It is inherited in an autosomal recessive manner due to mutations in the SLC2A2 gene. SLC2A2 encodes for the glucose transporter GLUT2 and is express...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sharari, Sanaa, Kabeer, Basirudeen, Mohammed, Idris, Haris, Basma, Pavlovski, Igor, Hawari, Iman, Bhat, Ajaz Ahmad, Toufiq, Mohammed, Tomei, Sara, Mathew, Rebecca, Syed, Najeeb, Nisar, Sabah, Maacha, Selma, Grivel, Jean-Charles, Chaussabel, Damien, Ericsson, Johan, Hussain, Khalid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9495670/ https://www.ncbi.nlm.nih.gov/pubmed/36140215 http://dx.doi.org/10.3390/biomedicines10092114

Ejemplares similares

Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient
por: Sharari, Sanaa, et al.
Publicado: (2022)

Fanconi–Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia
por: Sharari, Sanaa, et al.
Publicado: (2020)

Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient
por: Hawari, Iman, et al.
Publicado: (2022)

Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome
por: Roy, Mahua, et al.
Publicado: (2011)

Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene
por: Kehar, Mohit, et al.
Publicado: (2014)

Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children
por: Musa, Salwa A., et al.
Publicado: (2020)

Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene
por: Kehar, Mohit, et al.
Publicado: (2016)

Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families
por: Al-Haggar, Mohammad, et al.
Publicado: (2011)

Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation
por: Dweikat, Imad Mohammad, et al.
Publicado: (2016)

Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature
por: Xiong, Li-Jing, et al.
Publicado: (2020)

Pediatric metanephric adenoma with Fanconi–Bickel syndrome: a case report and review of literature
por: Sarhan, Osama M., et al.
Publicado: (2022)

Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia
por: Chen, Hongbo, et al.
Publicado: (2022)

The Successful Anesthetic Management of a Cesarean Delivery in a Patient with Fanconi–Bickel Syndrome
por: DeLeon, Alexander M., et al.
Publicado: (2022)

Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report
por: Piloya, Thereza, et al.
Publicado: (2020)

Granulocyte and Monocyte Adsorptive Apheresis for Ulcerative Colitis in a Patient with Low Bone Mineral Density Due to Fanconi-Bickel Syndrome
por: Tanaka, Makoto, et al.
Publicado: (2021)

Selected Works of Peter J Bickel
por: Fan, Jianqing, et al.
Publicado: (2013)

Influence of storage conditions of small volumes of blood on immune transcriptomic profiles
por: Mathew, Rebecca, et al.
Publicado: (2020)

Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature
por: Hadipour, Fatemeh, et al.
Publicado: (2013)

Extracellular vesicles-mediated intercellular communication: roles in the tumor microenvironment and anti-cancer drug resistance
por: Maacha, Selma, et al.
Publicado: (2019)

Transcriptomic profile investigations highlight a putative role for NUDT16 in sepsis
por: Huang, Susie Shih Yin, et al.
Publicado: (2022)

Abundance of ACVR1B transcript is elevated during septic conditions: Perspectives obtained from a hands-on reductionist investigation
por: Preechanukul, Anucha, et al.
Publicado: (2023)

A Neutrophil-Driven Inflammatory Signature Characterizes the Blood Transcriptome Fingerprint of Psoriasis
por: Rawat, Arun, et al.
Publicado: (2020)

Harnessing large language models (LLMs) for candidate gene prioritization and selection
por: Toufiq, Mohammed, et al.
Publicado: (2023)

Organizing training workshops on gene literature retrieval, profiling, and visualization for early career researchers
por: Al Ali, Fatima, et al.
Publicado: (2023)

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome
por: Eghbali, Maryam, et al.
Publicado: (2021)

Definition of erythroid cell‐positive blood transcriptome phenotypes associated with severe respiratory syncytial virus infection
por: Rinchai, Darawan, et al.
Publicado: (2020)

Annexin A3 in sepsis: novel perspectives from an exploration of public transcriptome data
por: Toufiq, Mohammed, et al.
Publicado: (2020)

Blood gene transcript signature profiling in pregnancies resulting in preterm birth: A systematic review
por: Brummaier, Tobias, et al.
Publicado: (2020)

High–temporal resolution profiling reveals distinct immune trajectories following the first and second doses of COVID-19 mRNA vaccines
por: Rinchai, Darawan, et al.
Publicado: (2022)

Dysglycemia and arrhythmias
por: Sun, Dong-Kun, et al.
Publicado: (2023)

A prospective cohort for the investigation of alteration in temporal transcriptional and microbiome trajectories preceding preterm birth: a study protocol
por: Brummaier, Tobias, et al.
Publicado: (2019)

A modular framework for the development of targeted Covid-19 blood transcript profiling panels
por: Rinchai, Darawan, et al.
Publicado: (2020)

Clinical features, epidemiology, autoantibody status, HLA haplotypes and genetic mechanisms of type 1 diabetes mellitus among children in Qatar
por: Haris, Basma, et al.
Publicado: (2021)

Maturity‐onset diabetes of the young (MODY) due to PDX1 mutation in a sib‐pair diabetes family from Qatar
por: Haris, Basma, et al.
Publicado: (2021)

Dromedary camels as a natural source of neutralizing nanobodies against SARS-CoV-2
por: Chouchane, Lotfi, et al.
Publicado: (2021)

Screening for Dysglycemia: Connecting Supply and Demand to Slow Growth in Diabetes Incidence
por: Ali, Mohammed K., et al.
Publicado: (2016)

A curated collection of transcriptome datasets to investigate the molecular mechanisms of immunoglobulin E-mediated atopic diseases
por: Huang, Susie S Y, et al.
Publicado: (2019)

Cytokine-chemokine network driven metastasis in esophageal cancer; promising avenue for targeted therapy
por: Bhat, Ajaz A., et al.
Publicado: (2021)

Dysglycemia and Arthroplasty Outcomes: A Review
por: Alkindy, Talal
Publicado: (2020)

Dysglycemia in Pregnancy and Maternal/Fetal Outcomes
por: Silva, Corinne M., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_kicj13d519d8qr6ih2i74sfb8v