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David Altshuler

Explore the profile of David Altshuler including associated specialties, affiliations and a list of published articles. Areas
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Articles 234
Citations 88035
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Recent Articles
11.
Frangoul H, Altshuler D, Cappellini M, Chen Y, Domm J, Eustace B, et al.
N Engl J Med . 2020 Dec; 384(3):252-260. PMID: 33283989
Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are severe monogenic diseases with severe and potentially life-threatening manifestations. BCL11A is a transcription factor that represses γ-globin expression and fetal hemoglobin...
12.
Morag Y, Altshuler D, Udager K, Yang L
Clin Imaging . 2020 Nov; 70:118-123. PMID: 33157368
Nerve torsion is a recognized etiology in brachial and peripheral neuropathy. Vascular compromise of peripheral nerves is uncommon given their unique vascular supply. Preoperative imaging diagnosis of nerve torsion and...
13.
Garcia-Fabiani M, Comba A, Kadiyala P, Haase S, Nunez F, Altshuler D, et al.
Methods Enzymol . 2020 Feb; 632:369-388. PMID: 32000905
Gliomas are the most common malignant brain tumors in the pediatric population. Even though great efforts have been made to understand their distinctive molecular characteristics, there has not been any...
14.
Alghamri M, Nunez F, Kamran N, Carney S, Altshuler D, Lowenstein P, et al.
Methods Enzymol . 2020 Jan; 631:91-106. PMID: 31948569
Diffuse Gliomas represent 80% of brain tumors with an average survival of the most aggressive form glioblastoma (GBM) 15-22 months from the time of diagnosis. The current standard of care...
15.
Flannick J, Mercader J, Fuchsberger C, Udler M, Mahajan A, Wessel J, et al.
Nature . 2019 May; 570(7759):71-76. PMID: 31118516
Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 ...
16.
Kadiyala P, Li D, Nunez F, Altshuler D, Doherty R, Kuai R, et al.
ACS Nano . 2019 Feb; 13(2):1365-1384. PMID: 30721028
Glioblastoma multiforme (GBM) is an aggressive primary brain tumor, for which there is no cure. Treatment effectiveness for GBM has been limited due to tumor heterogeneity, an immunosuppressive tumor microenvironment...
17.
Artomov M, Joseph V, Tiao G, Thomas T, Schrader K, Klein R, et al.
Eur J Hum Genet . 2019 Feb; 27(5):824-828. PMID: 30718883
Along with traditional effects of aging and carcinogen exposure-inherited DNA variation has substantial contribution to cancer risk. Extraordinary progress made in analysis of common variation with GWAS methodology does not...
18.
Gusarova V, ODushlaine C, Teslovich T, Benotti P, Mirshahi T, Gottesman O, et al.
Nat Commun . 2018 Jun; 9(1):2252. PMID: 29899519
Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve glucose...
19.
Haase S, Garcia-Fabiani M, Carney S, Altshuler D, Nunez F, Mendez F, et al.
Expert Opin Ther Targets . 2018 Jun; 22(7):599-613. PMID: 29889582
ATRX is a chromatin remodeling protein whose main function is the deposition of the histone variant H3.3. ATRX mutations are widely distributed in glioma, and correlate with alternative lengthening of...
20.
Yadav V, Altshuler D, Kadiyala P, Zamler D, Comba A, Appelman H, et al.
Neuro Oncol . 2018 Apr; 20(10):1356-1367. PMID: 29660022
Background: Glioblastoma (GBM) is an aggressive and highly vascular tumor with median survival below 2 years. Despite advances in surgery, radiotherapy, and chemotherapy, survival has improved modestly. To combat glioma...