Functional and structural analysis of rare SLC2A2 variants associated with Fanconi‐Bickel syndrome and metabolic traits-Reference-Cited by-同舟云学术

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Functional and structural analysis of rare SLC2A2 variants associated with Fanconi‐Bickel syndrome and metabolic traits

Published:2019-04-25 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Enogieru Osatohanmwen J.¹,Ung Peter M. U.²,Yee Sook Wah¹^ORCID,Schlessinger Avner²,Giacomini Kathleen M.¹³^ORCID

Affiliation:

1. Department of Bioengineering and Therapeutic SciencesUniversity of California, San FranciscoSan Francisco California

2. Department of Pharmacological SciencesIcahn School of Medicine at Mount SinaiNew York New York

3. Institute for Human GeneticsUniversity of California, San FranciscoSan Francisco California

Funder

Burroughs Wellcome Fund

Foundation for the National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23758

Reference83 articles.

1. Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi‐Bickel syndrome family;Abbasi F.;Gene,2015

2. A method and server for predicting damaging missense mutations;Adzhubei I. A.;Nature Methods,2010

3. Fanconi‐Bickel syndrome: another novel mutation in SLC2A2 Fanconi‐Bickel syndrome: another novel mutation in SLC2A2;Amita M.;The Indian Journal of Pediatrics,2017

4. Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism;Asjad H. M. M.;The Journal of Biological Chemistry,2017

5. Glycosuria and hyperglycemia in the neonatal period as the first clinical sign of Fanconi‐Bickel syndrome;Bahíllo‐Curieses M. P.;Pediatric Diabetes,2017

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2. Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome;Orphanet Journal of Rare Diseases;2024-02-16

3. Physiological functions of glucose transporter-2: From cell physiology to links with diabetes mellitus;Heliyon;2024-02

4. Examining the Genetic Role of rs8192675 Variant in Saudi Women Diagnosed with Polycystic Ovary Syndrome;Diagnostics;2023-10-14

5. The Pathogenesis of Diabetes;International Journal of Molecular Sciences;2023-04-10

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