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Article ; Online: TRAPing a new gene for autoimmunity.

Behrens, Timothy W / Graham, Robert R

2011 Volume 43, Issue 2, Page(s) 90–91

MeSH term(s)	Acid Phosphatase/genetics ; Alleles ; Autoantibodies/chemistry ; Autoimmune Diseases/genetics ; Autoimmunity ; Brain/metabolism ; Genes, Recessive ; HLA Antigens/metabolism ; Humans ; Isoenzymes/genetics ; Lupus Erythematosus, Systemic/genetics ; Mutation ; Osteochondrodysplasias/genetics ; Osteopontin/genetics ; Phosphorylation ; Risk ; Syndrome ; Tartrate-Resistant Acid Phosphatase
Chemical Substances	Autoantibodies ; HLA Antigens ; Isoenzymes ; Osteopontin (106441-73-0) ; Acid Phosphatase (EC 3.1.3.2) ; Tartrate-Resistant Acid Phosphatase (EC 3.1.3.2)
Language	English
Publishing date	2011-01-27
Publishing country	United States
Document type	News ; Comment
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng0211-90
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Article ; Online: Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Tanigawa, Yosuke / Wainberg, Michael / Karjalainen, Juha / Kiiskinen, Tuomo / Venkataraman, Guhan / Lemmelä, Susanna / Turunen, Joni A / Graham, Robert R / Havulinna, Aki S / Perola, Markus / Palotie, Aarno / Daly, Mark J / Rivas, Manuel A

PLoS genetics

2020 Volume 16, Issue 5, Page(s) e1008682

Abstract: Protein-altering variants that are protective against human disease provide in vivo validation of therapeutic targets. Here we use genotyping data from UK Biobank (n = 337,151 unrelated White British individuals) and FinnGen (n = 176,899) to conduct a ... ...

Abstract	Protein-altering variants that are protective against human disease provide in vivo validation of therapeutic targets. Here we use genotyping data from UK Biobank (n = 337,151 unrelated White British individuals) and FinnGen (n = 176,899) to conduct a search for protein-altering variants conferring lower intraocular pressure (IOP) and protection against glaucoma. Through rare protein-altering variant association analysis, we find a missense variant in ANGPTL7 in UK Biobank (rs28991009, p.Gln175His, MAF = 0.8%, genotyped in 82,253 individuals with measured IOP and an independent set of 4,238 glaucoma patients and 250,660 controls) that significantly lowers IOP (β = -0.53 and -0.67 mmHg for heterozygotes, -3.40 and -2.37 mmHg for homozygotes, P = 5.96 x 10-9 and 1.07 x 10-13 for corneal compensated and Goldman-correlated IOP, respectively) and is associated with 34% reduced risk of glaucoma (P = 0.0062). In FinnGen, we identify an ANGPTL7 missense variant at a greater than 50-fold increased frequency in Finland compared with other populations (rs147660927, p.Arg220Cys, MAF Finland = 4.3%), which was genotyped in 6,537 glaucoma patients and 170,362 controls and is associated with a 29% lower glaucoma risk (P = 1.9 x 10-12 for all glaucoma types and also protection against its subtypes including exfoliation, primary open-angle, and primary angle-closure). We further find three rarer variants in UK Biobank, including a protein-truncating variant, which confer a strong composite lowering of IOP (P = 0.0012 and 0.24 for Goldman-correlated and corneal compensated IOP, respectively), suggesting the protective mechanism likely resides in the loss of interaction or function. Our results support inhibition or down-regulation of ANGPTL7 as a therapeutic strategy for glaucoma.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Angiopoietin-Like Protein 7 ; Angiopoietin-like Proteins/genetics ; Biological Specimen Banks/statistics & numerical data ; Case-Control Studies ; Cohort Studies ; Female ; Finland/epidemiology ; Gene Frequency ; Genetic Predisposition to Disease ; Genetics, Population ; Genome-Wide Association Study ; Glaucoma/epidemiology ; Glaucoma/genetics ; Glaucoma/prevention & control ; Humans ; Intraocular Pressure/genetics ; Loss of Function Mutation/genetics ; Male ; Middle Aged ; Mutation, Missense ; Polymorphism, Single Nucleotide ; United Kingdom/epidemiology
Chemical Substances	ANGPTL7 protein, human ; Angiopoietin-Like Protein 7 ; Angiopoietin-like Proteins
Language	English
Publishing date	2020-05-05
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2186725-2
ISSN	1553-7404 ; 1553-7390
ISSN (online)	1553-7404
ISSN	1553-7390
DOI	10.1371/journal.pgen.1008682
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Article ; Online: A whole genome sequencing study of moderate to severe asthma identifies a lung function locus associated with asthma risk.

Scientific reports

2022 Volume 12, Issue 1, Page(s) 5574

Abstract: Genome-wide association studies (GWAS) have identified many common variant loci associated with asthma susceptibility, but few studies investigate the genetics underlying moderate-to-severe asthma risk. Here, we present a whole-genome sequencing study ... ...

Abstract	Genome-wide association studies (GWAS) have identified many common variant loci associated with asthma susceptibility, but few studies investigate the genetics underlying moderate-to-severe asthma risk. Here, we present a whole-genome sequencing study comparing 3181 moderate-to-severe asthma patients to 3590 non-asthma controls. We demonstrate that asthma risk is genetically correlated with lung function measures and that this component of asthma risk is orthogonal to the eosinophil genetics that also contribute to disease susceptibility. We find that polygenic scores for reduced lung function are associated with younger asthma age of onset. Genome-wide, seven previously reported common asthma variant loci and one previously reported lung function locus, near THSD4, reach significance. We replicate association of the lung function locus in a recently published GWAS of moderate-to-severe asthma patients. We additionally replicate the association of a previously reported rare (minor allele frequency < 1%) coding variant in IL33 and show significant enrichment of rare variant burden in genes from common variant allergic disease loci. Our findings highlight the contribution of lung function genetics to moderate-to-severe asthma risk, and provide initial rare variant support for associations with moderate-to-severe asthma risk at several candidate genes from common variant loci.
MeSH term(s)	Asthma/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Lung ; Whole Genome Sequencing
Language	English
Publishing date	2022-04-02
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-022-09447-8
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Article ; Online: Identifying and mitigating batch effects in whole genome sequencing data.

Tom, Jennifer A / Reeder, Jens / Forrest, William F / Graham, Robert R / Hunkapiller, Julie / Behrens, Timothy W / Bhangale, Tushar R

BMC bioinformatics

2017 Volume 18, Issue 1, Page(s) 351

Abstract: Background: Large sample sets of whole genome sequencing with deep coverage are being generated, however assembling datasets from different sources inevitably introduces batch effects. These batch effects are not well understood and can be due to ... ...

Abstract	Background: Large sample sets of whole genome sequencing with deep coverage are being generated, however assembling datasets from different sources inevitably introduces batch effects. These batch effects are not well understood and can be due to changes in the sequencing protocol or bioinformatics tools used to process the data. No systematic algorithms or heuristics exist to detect and filter batch effects or remove associations impacted by batch effects in whole genome sequencing data. Results: We describe key quality metrics, provide a freely available software package to compute them, and demonstrate that identification of batch effects is aided by principal components analysis of these metrics. To mitigate batch effects, we developed new site-specific filters that identified and removed variants that falsely associated with the phenotype due to batch effect. These include filtering based on: a haplotype based genotype correction, a differential genotype quality test, and removing sites with missing genotype rate greater than 30% after setting genotypes with quality scores less than 20 to missing. This method removed 96.1% of unconfirmed genome-wide significant SNP associations and 97.6% of unconfirmed genome-wide significant indel associations. We performed analyses to demonstrate that: 1) These filters impacted variants known to be disease associated as 2 out of 16 confirmed associations in an AMD candidate SNP analysis were filtered, representing a reduction in power of 12.5%, 2) In the absence of batch effects, these filters removed only a small proportion of variants across the genome (type I error rate of 3%), and 3) in an independent dataset, the method removed 90.2% of unconfirmed genome-wide SNP associations and 89.8% of unconfirmed genome-wide indel associations. Conclusions: Researchers currently do not have effective tools to identify and mitigate batch effects in whole genome sequencing data. We developed and validated methods and filters to address this deficiency.
MeSH term(s)	Genome-Wide Association Study/methods ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Macular Degeneration/genetics ; Macular Degeneration/pathology ; Phenotype ; Polymorphism, Single Nucleotide ; Principal Component Analysis ; Sequence Analysis, DNA ; Software
Language	English
Publishing date	2017-07-24
Publishing country	England
Document type	Journal Article
ZDB-ID	2041484-5
ISSN	1471-2105 ; 1471-2105
ISSN (online)	1471-2105
ISSN	1471-2105
DOI	10.1186/s12859-017-1756-z
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Article ; Online: Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease.

Hung, Adriana M / Assimon, Victoria A / Chen, Hua-Chang / Yu, Zhihong / Vlasschaert, Caitlyn / Triozzi, Jefferson L / Chan, Helen / Wheless, Lee / Wilson, Otis / Shah, Shailja C / Mack, Taralynn / Thompson, Trevor / Matheny, Michael E / Chandrasekar, Saranya / Mozaffari, Sahar V / Chung, Cecilia P / Tsao, Philip / Susztak, Katalin / Siew, Edward D /

Estrada, Karol / Gaziano, J Michael / Graham, Robert R / Tao, Ran / Hoek, Maarten / Robinson-Cohen, Cassianne / Green, Eric M / Bick, Alexander G

Journal of the American Society of Nephrology : JASN

2023 Volume 34, Issue 11, Page(s) 1889–1899

Abstract: Significance statement: African Americans are at increased risk of CKD in part due to high-risk (HR) variants in the apolipoprotein L1 ( APOL1 ) gene, termed G1/G2. A different APOL1 variant, p.N264K , reduced the risk of CKD and ESKD among carriers of ... ...

Abstract	Significance statement: African Americans are at increased risk of CKD in part due to high-risk (HR) variants in the apolipoprotein L1 ( APOL1 ) gene, termed G1/G2. A different APOL1 variant, p.N264K , reduced the risk of CKD and ESKD among carriers of APOL1 HR variants to levels comparable with individuals with APOL1 low-risk variants in an analysis of 121,492 participants of African ancestry from the Million Veteran Program (MVP). Functional genetic studies in cell models showed that APOL1 p.N264K blocked APOL1 pore-forming function and ion channel conduction and reduced toxicity of APOL1 HR mutations. Pharmacologic inhibitors that mimic this mutation blocking APOL1 -mediated pore formation may be able to prevent and/or treat APOL1 -associated kidney disease. Background: African Americans are at increased risk for nondiabetic CKD in part due to HR variants in the APOL1 gene. Methods: We tested whether a different APOL1 variant, p.N264K , modified the association between APOL1 HR genotypes (two copies of G1/G2) and CKD in a cross-sectional analysis of 121,492 participants of African ancestry from the MVP. We replicated our findings in the Vanderbilt University Biobank ( n =14,386) and National Institutes of Health All of Us ( n =14,704). Primary outcome was CKD and secondary outcome was ESKD among nondiabetic patients. Primary analysis compared APOL1 HR genotypes with and without p.N264K . Secondary analyses included APOL1 low-risk genotypes and tested for interaction. In MVP, we performed sequential logistic regression models adjusting for demographics, comorbidities, medications, and ten principal components of ancestry. Functional genomic studies expressed APOL1 HR variants with and without APOL1 p.N264K in cell models. Results: In the MVP cohort, 15,604 (12.8%) had two APOL1 HR variants, of which 582 (0.5%) also had APOL1 p.N264K . In MVP, 18,831 (15%) had CKD, 4177 (3%) had ESKD, and 34% had diabetes. MVP APOL1 HR, without p.N264K , was associated with increased odds of CKD (odds ratio [OR], 1.72; 95% confidence interval [CI], 1.60 to 1.85) and ESKD (OR, 3.94; 95% CI, 3.52 to 4.41). In MVP, APOL1 p.N264K mitigated the renal risk of APOL1 HR, in CKD (OR, 0.43; 95% CI, 0.28 to 0.65) and ESKD (OR, 0.19; CI 0.07 to 0.51). In the replication cohorts meta-analysis, APOL1 p.N264K mitigated the renal risk of APOL1 HR in CKD (OR, 0.40; 95% CI, 0.18 to 0.92) and ESKD (OR, 0.19; 95% CI, 0.05 to 0.79). In the mechanistic studies, APOL1 p.N264K blocked APOL1 pore-forming function and ion channel conduction and reduced toxicity of APOL1 HR variants. Conclusions: APOL1 p.N264K is associated with reduced risk of CKD and ESKD among carriers of APOL1 HR to levels comparable with individuals with APOL1 low-risk genotypes.
MeSH term(s)	Humans ; Apolipoprotein L1/genetics ; Apolipoproteins/genetics ; Cross-Sectional Studies ; Genetic Predisposition to Disease ; Genotype ; Ion Channels/genetics ; Population Health ; Renal Insufficiency, Chronic/genetics ; Black or African American/genetics
Chemical Substances	APOL1 protein, human ; Apolipoprotein L1 ; Apolipoproteins ; Ion Channels
Language	English
Publishing date	2023-10-06
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	1085942-1
ISSN	1533-3450 ; 1046-6673
ISSN (online)	1533-3450
ISSN	1046-6673
DOI	10.1681/ASN.0000000000000219
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Article ; Online: Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders.

Ullman, Julie C / Mellem, Kevin T / Xi, Yannan / Ramanan, Vyas / Merritt, Hanne / Choy, Rebeca / Gujral, Tarunmeet / Young, Lyndsay E A / Blake, Kerrigan / Tep, Samnang / Homburger, Julian R / O'Regan, Adam / Ganesh, Sandya / Wong, Perryn / Satterfield, Terrence F / Lin, Baiwei / Situ, Eva / Yu, Cecile / Espanol, Bryan /

Sarwaikar, Richa / Fastman, Nathan / Tzitzilonis, Christos / Lee, Patrick / Reiton, Daniel / Morton, Vivian / Santiago, Pam / Won, Walter / Powers, Hannah / Cummings, Beryl B / Hoek, Maarten / Graham, Robert R / Chandriani, Sanjay J / Bainer, Russell / DePaoli-Roach, Anna A / Roach, Peter J / Hurley, Thomas D / Sun, Ramon C / Gentry, Matthew S / Sinz, Christopher / Dick, Ryan A / Noonberg, Sarah B / Beattie, David T / Morgans, David J / Green, Eric M

Science translational medicine

2024 Volume 16, Issue 730, Page(s) eadf1691

Abstract: Glycogen synthase 1 (GYS1), the rate-limiting enzyme in muscle glycogen synthesis, plays a central role in energy homeostasis and has been proposed as a therapeutic target in multiple glycogen storage diseases. Despite decades of investigation, there are ...

Abstract	Glycogen synthase 1 (GYS1), the rate-limiting enzyme in muscle glycogen synthesis, plays a central role in energy homeostasis and has been proposed as a therapeutic target in multiple glycogen storage diseases. Despite decades of investigation, there are no known potent, selective small-molecule inhibitors of this enzyme. Here, we report the preclinical characterization of MZ-101, a small molecule that potently inhibits GYS1 in vitro and in vivo without inhibiting GYS2, a related isoform essential for synthesizing liver glycogen. Chronic treatment with MZ-101 depleted muscle glycogen and was well tolerated in mice. Pompe disease, a glycogen storage disease caused by mutations in acid α glucosidase (GAA), results in pathological accumulation of glycogen and consequent autophagolysosomal abnormalities, metabolic dysregulation, and muscle atrophy. Enzyme replacement therapy (ERT) with recombinant GAA is the only approved treatment for Pompe disease, but it requires frequent infusions, and efficacy is limited by suboptimal skeletal muscle distribution. In a mouse model of Pompe disease, chronic oral administration of MZ-101 alone reduced glycogen buildup in skeletal muscle with comparable efficacy to ERT. In addition, treatment with MZ-101 in combination with ERT had an additive effect and could normalize muscle glycogen concentrations. Biochemical, metabolomic, and transcriptomic analyses of muscle tissue demonstrated that lowering of glycogen concentrations with MZ-101, alone or in combination with ERT, corrected the cellular pathology in this mouse model. These data suggest that substrate reduction therapy with GYS1 inhibition may be a promising therapeutic approach for Pompe disease and other glycogen storage diseases.
MeSH term(s)	Mice ; Animals ; Glycogen Storage Disease Type II/drug therapy ; Glycogen Synthase/metabolism ; Glycogen Synthase/pharmacology ; Mice, Knockout ; Glycogen/metabolism ; Muscle, Skeletal/metabolism ; Enzyme Replacement Therapy/methods
Chemical Substances	Glycogen Synthase (EC 2.4.1.11) ; Glycogen (9005-79-2)
Language	English
Publishing date	2024-01-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	2518854-9
ISSN	1946-6242 ; 1946-6234
ISSN (online)	1946-6242
ISSN	1946-6234
DOI	10.1126/scitranslmed.adf1691
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Article: The genetics of type I interferon in systemic lupus erythematosus

Bronson, Paola G / Chaivorapol, Christina / Ortmann, Ward / Behrens, Timothy W / Graham, Robert R

Current Opinion in Immunology. 2012 Oct., v. 24, no. 5

2012

Abstract: The discovery that type I interferon (IFN)-inducible genes were strongly upregulated in peripheral blood in SLE over a decade ago sparked interest in understanding the relationship between type I IFN and SLE. Genome-wide association studies provide ... ...

Abstract	The discovery that type I interferon (IFN)-inducible genes were strongly upregulated in peripheral blood in SLE over a decade ago sparked interest in understanding the relationship between type I IFN and SLE. Genome-wide association studies provide strong genetic evidence that type I IFNs are important for SLE risk. Of 47 genetic variants associated with SLE, over half (27/47, 57%) can be linked to type I IFN production or signaling. The recent identification of single gene mutations for disorders that share features with SLE – Aicardi–Goutières syndrome, chilblain lupus, and spondyloenchondrodysplasia – provide additional support for the hypothesis that type I IFNs are central drivers of SLE pathogenesis. These insights provide significant focus for efforts to tackle SLE therapeutically.
Keywords	blood ; gene expression regulation ; genes ; genetic variation ; genome-wide association study ; interferons ; lupus erythematosus ; mutation ; pathogenesis ; risk
Language	English
Dates of publication	2012-10
Size	p. 530-537.
Publishing place	Elsevier Ltd
Document type	Article
ZDB-ID	1035767-1
ISSN	1879-0372 ; 0952-7915
ISSN (online)	1879-0372
ISSN	0952-7915
DOI	10.1016/j.coi.2012.07.008
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Article ; Online: Genome-wide association study identifies kallikrein 5 in type 2 inflammation-low asthma.

Jackman, Janet K / Stockwell, Amy / Choy, David F / Xie, Markus M / Lu, Peipei / Jia, Guiquan / Li, Hong / Abbas, Alexander R / Bronson, Paola G / Lin, Wei-Yu / Chiu, Cecilia P C / Maun, Henry R / Roose-Girma, Merone / Tam, Lucinda / Zhang, Juan / Modrusan, Zora / Graham, Robert R / Behrens, Timothy W / White, Steven R /

Naureckas, Ted / Ober, Carole / Ferreira, Manuel / Sedlacek, Radislav / Wu, Jiansheng / Lee, Wyne P / Lazarus, Robert A / Koerber, James T / Arron, Joseph R / Yaspan, Brian L / Yi, Tangsheng

The Journal of allergy and clinical immunology

2022 Volume 150, Issue 4, Page(s) 972–978.e7

Abstract: Background: Clinical studies of type 2 (T2) cytokine-related neutralizing antibodies in asthma have identified a substantial subset of patients with low levels of T2 inflammation who do not benefit from T2 cytokine neutralizing antibody treatment. Non- ... ...

Abstract	Background: Clinical studies of type 2 (T2) cytokine-related neutralizing antibodies in asthma have identified a substantial subset of patients with low levels of T2 inflammation who do not benefit from T2 cytokine neutralizing antibody treatment. Non-T2 mechanisms are poorly understood in asthma but represent a redefined unmet medical need. Objective: We sought to gain a better understanding of genetic contributions to T2-low asthma. Methods: We utilized an unbiased genome-wide association study of patients with moderate to severe asthma stratified by T2 serum biomarker periostin. We also performed additional expression and biological analysis for the top genetic hits. Results: We identified a novel protective single nucleotide polymorphism at chr19q13.41, which is selectively associated with T2-low asthma and establishes Kallikrein-related peptidase 5 (KLK5) as the causal gene mediating this association. Heterozygous carriers of the single nucleotide polymorphisms have reduced KLK5 expression. KLK5 is secreted by human bronchial epithelial cells and elevated in asthma bronchial alveolar lavage. T2 cytokines IL-4 and IL-13 downregulate KLK5 in human bronchial epithelial cells. KLK5, dependent on its catalytic function, induces epithelial chemokine/cytokine expression. Finally, overexpression of KLK5 in airway or lack of an endogenous KLK5 inhibitor, SPINK5, leads to spontaneous airway neutrophilic inflammation. Conclusion: Our data identify KLK5 to be the causal gene at a novel locus at chr19q13.41 associated with T2-low asthma.
MeSH term(s)	Antibodies, Neutralizing/genetics ; Asthma/genetics ; Chemokines/genetics ; Cytokines/metabolism ; Genome-Wide Association Study ; Humans ; Inflammation/genetics ; Interleukin-13/genetics ; Interleukin-4/genetics ; Kallikreins/genetics ; Kallikreins/metabolism
Chemical Substances	Antibodies, Neutralizing ; Chemokines ; Cytokines ; Interleukin-13 ; Interleukin-4 (207137-56-2) ; KLK5 protein, human (EC 3.4.21.-) ; Kallikreins (EC 3.4.21.-)
Language	English
Publishing date	2022-04-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	121011-7
ISSN	1097-6825 ; 1085-8725 ; 0091-6749
ISSN (online)	1097-6825 ; 1085-8725
ISSN	0091-6749
DOI	10.1016/j.jaci.2022.03.033
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Article ; Online: The genetics of type I interferon in systemic lupus erythematosus.

Bronson, Paola G / Chaivorapol, Christina / Ortmann, Ward / Behrens, Timothy W / Graham, Robert R

Current opinion in immunology

2012 Volume 24, Issue 5, Page(s) 530–537

Abstract	The discovery that type I interferon (IFN)-inducible genes were strongly upregulated in peripheral blood in SLE over a decade ago sparked interest in understanding the relationship between type I IFN and SLE. Genome-wide association studies provide strong genetic evidence that type I IFNs are important for SLE risk. Of 47 genetic variants associated with SLE, over half (27/47, 57%) can be linked to type I IFN production or signaling. The recent identification of single gene mutations for disorders that share features with SLE--Aicardi-Goutières syndrome, chilblain lupus, and spondyloenchondrodysplasia--provide additional support for the hypothesis that type I IFNs are central drivers of SLE pathogenesis. These insights provide significant focus for efforts to tackle SLE therapeutically.
MeSH term(s)	Animals ; Disease Models, Animal ; Genome-Wide Association Study/methods ; Genome-Wide Association Study/trends ; Humans ; Interferon Type I/biosynthesis ; Interferon Type I/genetics ; Interferon Type I/physiology ; Lupus Erythematosus, Systemic/etiology ; Lupus Erythematosus, Systemic/genetics ; Lupus Erythematosus, Systemic/immunology ; Mutation ; Signal Transduction/genetics ; Signal Transduction/immunology
Chemical Substances	Interferon Type I
Language	English
Publishing date	2012-10
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1035767-1
ISSN	1879-0372 ; 0952-7915
ISSN (online)	1879-0372
ISSN	0952-7915
DOI	10.1016/j.coi.2012.07.008
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Article: Influence of genetic copy number variants of the human GLUT3 glucose transporter gene

Simpfendorfer, Kim R / Li, Wentian / Shih, Andrew / Wen, Hongxiu / Kothari, Harini P / Einsidler, Edward A / Wuster, Arthur / Hunkapiller, Julie / Behrens, Timothy W / Graham, Robert R / Townsend, Michael J / Behar, Doron M / Hu, Rui / Greenspan, Elliott / Gregersen, Peter K

Molecular genetics and metabolism reports

2019 Volume 19, Page(s) 100470

Abstract: Objectives: The gene encoding glucose transporter 3 (GLUT3, : Methods: Cells from genotyped healthy controls were analyzed for : Results: Heterozygous deletion of : Conclusions: Despite a ... ...

Abstract	Objectives: The gene encoding glucose transporter 3 (GLUT3, Methods: Cells from genotyped healthy controls were analyzed for Results: Heterozygous deletion of Conclusions: Despite a robust
Language	English
Publishing date	2019-04-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2019.100470
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