Cargando…

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties

Purpose: Demand is increasing for clinical genomic sequencing to provide diagnoses for patients presenting phenotypes indicative of genetic diseases, but for whom routine genetic testing failed to yield a diagnosis. DNA-based testing using high-throughput technologies often identifies variants with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zimmermann, Michael T., Urrutia, Raul, Cousin, Margot A., Oliver, Gavin R., Klee, Eric W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068234/ https://www.ncbi.nlm.nih.gov/pubmed/30090112 http://dx.doi.org/10.3389/fgene.2018.00276

Ejemplares similares

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing
por: Zimmermann, Michael T., et al.
Publicado: (2017)

Polymorphisms in Manganese Transporters SLC30A10 and SLC39A8 Are Associated With Children's Neurodevelopment by Influencing Manganese Homeostasis
por: Wahlberg, Karin E., et al.
Publicado: (2018)

Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research
por: Oliver, Gavin Robert, et al.
Publicado: (2020)

P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants
por: DeVoe, Elias, et al.
Publicado: (2021)

“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results
por: Oliver, Gavin R., et al.
Publicado: (2016)

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome
por: Zimmermann, Michael T., et al.
Publicado: (2017)

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling
por: Cousin, Margot A., et al.
Publicado: (2017)

Total Zinc Intake May Modify the Glucose-Raising Effect of a Zinc Transporter (SLC30A8) Variant: A 14-Cohort Meta-analysis
por: Kanoni, Stavroula, et al.
Publicado: (2011)

Effect of SLC16A1 on Hepatic Glucose Metabolism in Newborn and Post-Weaned Holstein Bulls
por: Xue, Mingming, et al.
Publicado: (2022)

Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes
por: Bento, Jennifer L, et al.
Publicado: (2005)

Glucose and Inositol Transporters, SLC5A1 and SLC5A3, in Glioblastoma Cell Migration
por: Brosch, Philippa K., et al.
Publicado: (2022)

Brain Magnetic Resonance Imaging Phenome-Wide Association Study With Metal Transporter Gene SLC39A8
por: Hermann, Evan R., et al.
Publicado: (2021)

SLC4A4, FRAS1, and SULT1A1 Genetic Variations Associated With Dabigatran Metabolism in a Healthy Chinese Population
por: Xie, Qiufen, et al.
Publicado: (2022)

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases
por: Jenkinson, Garrett, et al.
Publicado: (2020)

Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant
por: Alamoudi, Loujen O, et al.
Publicado: (2021)

Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss
por: Pique, Lynn M., et al.
Publicado: (2014)

Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay
por: Xin, Qing, et al.
Publicado: (2022)

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9
por: Li, Chuangye, et al.
Publicado: (2020)

iMusta4SLC: Database for the structural property and variations of solute carrier transporters
por: Higuchi, Akiko, et al.
Publicado: (2018)

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
por: Laugel-Haushalter, Virginie, et al.
Publicado: (2019)

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding
por: Blackburn, Patrick R., et al.
Publicado: (2017)

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia
por: Morales‐Rosado, Joel A., et al.
Publicado: (2020)

Reduced-Function SLC22A1 Polymorphisms Encoding Organic Cation Transporter 1 and Glycemic Response to Metformin: A GoDARTS Study
por: Zhou, Kaixin, et al.
Publicado: (2009)

Insulin-Independent and Dependent Glucose Transporters in Brain Mural Cells in CADASIL
por: Panahi, Mahmod, et al.
Publicado: (2020)

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic
por: Boczek, Nicole J., et al.
Publicado: (2016)

The 10-Repeat 3′-UTR VNTR Polymorphism in the SLC6A3 Gene May Confer Protection Against Parkinson’s Disease: A Meta-analysis
por: Zeng, Qiaoli, et al.
Publicado: (2021)

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases
por: Blackburn, Patrick R., et al.
Publicado: (2017)

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation
por: Blackburn, Patrick R., et al.
Publicado: (2017)

Genetic disruption of slc4a10 alters the capacity for cellular metabolism and vectorial ion transport in the choroid plexus epithelium
por: Christensen, Inga Baasch, et al.
Publicado: (2020)

Corrigendum: The 10-Repeat 3′-UTR VNTR Polymorphism in the SLC6A3 Gene May Confer Protection Against Parkinson’s Disease: A Meta-Analysis
por: Zeng, Qiaoli, et al.
Publicado: (2021)

Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system
por: Spelbrink, Emily M., et al.
Publicado: (2023)

Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease
por: Vittori, Angelica, et al.
Publicado: (2014)

Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa
por: Jacobs, Clifford, et al.
Publicado: (2014)

Structure, function and regulation of mammalian glucose transporters of the SLC2 family
por: Holman, Geoffrey D.
Publicado: (2020)

miRNA Associated With Glucose Transporters in Oral Squamous Cell Carcinoma: A Systematic Review
por: R, Priyadharshini, et al.
Publicado: (2023)

Modeling post‐translational modifications and cancer‐associated mutations that impact the heterochromatin protein 1α‐importin α heterodimers
por: Zimmermann, Michael T., et al.
Publicado: (2019)

Molecular Epidemiology of Na(+)-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1
por: Li, Hua, et al.
Publicado: (2022)

Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease
por: Li, Nan, et al.
Publicado: (2022)

Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
por: Toyoda, Yu, et al.
Publicado: (2023)

Borate Transporters and SLC4 Bicarbonate Transporters Share Key Functional Properties
por: Beltran, Jean L., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_petp07l1rjpkv1qdrs86ko3fik