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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 4
1999 10
2000 9
2001 7
2002 4
2003 6
2004 3
2005 3
2006 3
2007 2
2008 1
2009 3
2010 3
2011 4
2012 2
2013 7
2014 6
2015 3
2016 3
2017 3
2018 8
2019 3
2020 5
2021 7
2022 9
2023 9
2024 3

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118 results

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Page 1
CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.
Skakic A, Andjelkovic M, Tosic N, Klaassen K, Djordjevic M, Pavlovic S, Stojiljkovic M. Skakic A, et al. Gene. 2019 Jun 30;703:17-25. doi: 10.1016/j.gene.2019.04.002. Epub 2019 Apr 3. Gene. 2019. PMID: 30951856
The novel variant c.248G>A, found in GSD Ib patients, was introduced into the Flp-InT-REx-293 cell line using CRISPR/Cas9-mediated precise gene editing method, resulting in significant decrease of SLC37A4 gene expression. ...However, persistent metabolic s …
The novel variant c.248G>A, found in GSD Ib patients, was introduced into the Flp-InT-REx-293 cell line using CRISPR/Cas9-mediated precis …
An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease.
Bolton C, Smillie CS, Pandey S, Elmentaite R, Wei G, Argmann C, Aschenbrenner D, James KR, McGovern DPB, Macchi M, Cho J, Shouval DS, Kammermeier J, Koletzko S, Bagalopal K, Capitani M, Cavounidis A, Pires E, Weidinger C, McCullagh J, Arkwright PD, Haller W, Siegmund B, Peters L, Jostins L, Travis SPL, Anderson CA, Snapper S, Klein C, Schadt E, Zilbauer M, Xavier R, Teichmann S, Muise AM, Regev A, Uhlig HH. Bolton C, et al. Gastroenterology. 2022 Mar;162(3):859-876. doi: 10.1053/j.gastro.2021.11.014. Epub 2021 Nov 13. Gastroenterology. 2022. PMID: 34780721
METHODS: To build a taxonomy model, we assessed 165 disorders. Genes were prioritized based on penetrance of IBD and disease phenotypes were integrated with multi-omics datasets. ...As a proof-of-concept, we explore the intersection between immunometabolism and antimicrobi …
METHODS: To build a taxonomy model, we assessed 165 disorders. Genes were prioritized based on penetrance of IBD and disease phenotyp …
Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
Wang Z, Zhao R, Jia X, Li X, Ma L, Fu H. Wang Z, et al. J Int Med Res. 2023 Dec;51(12):3000605231216633. doi: 10.1177/03000605231216633. J Int Med Res. 2023. PMID: 38087503 Free PMC article. Review.
Glycogen storage disease type 1b (GSD1b) is a rare genetic disorder, resulting from mutations in the SLC37A4 gene located on chromosome 11q23.3. Although the SLC37A4 gene has been identified as the pathogenic gene for GSD1b, the complete variant …
Glycogen storage disease type 1b (GSD1b) is a rare genetic disorder, resulting from mutations in the SLC37A4 gene located on c …
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Froissart R, et al. Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Orphanet J Rare Dis. 2011. PMID: 21599942 Free PMC article. Review.
The deficit concerns the catalytic subunit G6P-alpha (type Ia) which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib). Mutations in the genes G6PC (17q21) and SLC37A4 (11q23) respectively cause G …
The deficit concerns the catalytic subunit G6P-alpha (type Ia) which is restricted to expression in the liver, kidney and intestine, or the …
A molecular signature for the G6PC3/SLC37A2/SLC37A4 interactors in glioblastoma disease progression and in the acquisition of a brain cancer stem cell phenotype.
Torabidastgerdooei S, Roy ME, Annabi B. Torabidastgerdooei S, et al. Front Endocrinol (Lausanne). 2023 Nov 16;14:1265698. doi: 10.3389/fendo.2023.1265698. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38034009 Free PMC article.
SLC37A4/G6PC3, but not SLC37A2, levels were induced in 3D CD133/SOX2-positive U87 neurospheres when compared to 2D monolayers. Silencing of SLC37A4/G6PC3 altered TGF-beta-induced EMT biomarker SNAIL and cell chemotaxis. ...
SLC37A4/G6PC3, but not SLC37A2, levels were induced in 3D CD133/SOX2-positive U87 neurospheres when compared to 2D monolayers. Silenc …
Molecular biology and gene therapy for glycogen storage disease type Ib.
Chou JY, Cho JH, Kim GY, Mansfield BC. Chou JY, et al. J Inherit Metab Dis. 2018 Nov;41(6):1007-1014. doi: 10.1007/s10545-018-0180-5. Epub 2018 Apr 16. J Inherit Metab Dis. 2018. PMID: 29663270 Review.
The results demonstrate that the liver-directed gene transfer and expression safely corrects metabolic abnormalities and prevents hepatocellular adenoma (HCA) development. However, a second vector system may be required to correct myeloid and renal dysfunction in GSD-Ib. T …
The results demonstrate that the liver-directed gene transfer and expression safely corrects metabolic abnormalities and prevents hep …
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
Qiu ZQ, Lu CX, Wang W, Qiu JJ, Wei M. Qiu ZQ, et al. Zhonghua Er Ke Za Zhi. 2011 Mar;49(3):203-8. Zhonghua Er Ke Za Zhi. 2011. PMID: 21575371 Chinese.
More than 84 mutations have been identified since the discovery of the SLC37A4 gene as the disease causing gene. Up to date, 5 mutations in 4 Chinese patients were reported from Hong Kang and Taiwan. ...The frequent mutations are p.Pro191Leu, p.Gly149Glu and …
More than 84 mutations have been identified since the discovery of the SLC37A4 gene as the disease causing gene. Up to …
Congenital neutropenia.
Klein C. Klein C. Hematology Am Soc Hematol Educ Program. 2009:344-50. doi: 10.1182/asheducation-2009.1.344. Hematology Am Soc Hematol Educ Program. 2009. PMID: 20008220 Review.
Syndromic variants of congenital neutropenia may be due to mutations in genes controlling glucose metabolism (SLC37A4, G6PC3) or lysosomal function (LYST, RAB27A, ROBLD3/p14, AP3B1, VPS13B). Furthermore, defects in genes encoding ribosomal proteins (SBDS, RMR …
Syndromic variants of congenital neutropenia may be due to mutations in genes controlling glucose metabolism (SLC37A4, G6PC3) …
Congenital neutropenia.
Ancliff PJ. Ancliff PJ. Blood Rev. 2003 Dec;17(4):209-16. doi: 10.1016/s0268-960x(03)00019-5. Blood Rev. 2003. PMID: 14556775 Review.
In particular, it will focus on severe congenital neutropenia (SCN) and the recent discovery of mutations in the gene encoding neutrophil elastase in the majority of cases of SCN. ...
In particular, it will focus on severe congenital neutropenia (SCN) and the recent discovery of mutations in the gene encoding neutro …
The Physiopathological Role of the Exchangers Belonging to the SLC37 Family.
Cappello AR, Curcio R, Lappano R, Maggiolini M, Dolce V. Cappello AR, et al. Front Chem. 2018 Apr 17;6:122. doi: 10.3389/fchem.2018.00122. eCollection 2018. Front Chem. 2018. PMID: 29719821 Free PMC article. Review.
The human SLC37 gene family includes four proteins SLC37A1-4, localized in the endoplasmic reticulum (ER) membrane. ...G6PT deficiency is responsible for glycogen storage disease type Ib (GSD-Ib), an autosomal recessive disorder associated with both defective metabolic and …
The human SLC37 gene family includes four proteins SLC37A1-4, localized in the endoplasmic reticulum (ER) membrane. ...G6PT deficienc …
118 results