Ascia Eskin

Ascia Eskin

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Ascia Eskin

Publications by authors named "Ascia Eskin"

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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.

Hum Mol Genet 2018 05;27(9):1642-1653

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1093/hmg/ddy071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5905633PMC
May 2018

ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs.

Nat Cell Biol 2018 01 18;20(1):46-57. Epub 2017 Dec 18.

Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1038/s41556-017-0010-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5962356PMC
January 2018

Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells.

Sci Rep 2016 11 15;6:36916. Epub 2016 Nov 15.

Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, 90095, CA, USA.

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http://dx.doi.org/10.1038/srep36916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109279PMC
November 2016

Feedback modulation of cholesterol metabolism by the lipid-responsive non-coding RNA LeXis.

Nature 2016 06 11;534(7605):124-8. Epub 2016 May 11.

Department of Pathology and Laboratory Medicine, Howard Hughes Medical Institute, University of California, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1038/nature17674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4896091PMC
June 2016

Genomic predictors of remission to antidepressant treatment in geriatric depression using genome-wide expression analyses: a pilot study.

Int J Geriatr Psychiatry 2016 May 15;31(5):510-7. Epub 2015 Oct 15.

UCLA Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/gps.4356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567872PMC
May 2016

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders.

Eur J Hum Genet 2016 Jan 22;24(1):113-9. Epub 2015 Apr 22.

Bioinformatics Interdepartmental Program, University of California Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1038/ejhg.2015.68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795218PMC
January 2016

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Hum Mol Genet 2015 Jun 24;24(11):3163-71. Epub 2015 Feb 24.

Institute of Medical Biology, A*STAR, 8A Biomedical Grove, Singapore 138648, Singapore Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore

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http://dx.doi.org/10.1093/hmg/ddv067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424953PMC
June 2015

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

J Clin Endocrinol Metab 2015 Feb 10;100(2):E333-44. Epub 2014 Nov 10.

Departments of Human Genetics (R.M.B., V.A.A., H.B., A.E., S.F.N., E.D., E.V.) and Pathology and Laboratory Medicine (V.A.A., H.L., S.F.N.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095; Department of Pediatrics (M.P.A.), University of Washington, Seattle, Washington 98195; Department of Endocrinology (P.Y.F.), Seattle Children's Hospital, Seattle, Washington 98105; Nassau University Medical Center (R.B.), East Meadow, New York 11554; Departments of Pediatrics and Human Genetics (C.K.), Ann Arbor, Michigan 48109; The Children's Hospital Colorado (S.T.), Aurora, Colorado 80045; Division of Medical Genetics (S.S., L.H.), Stanford University, Lucile Packard Children's Hospital, Stanford, California 94305; TriStar Children's Specialists (R.P.M.), Nashville, Tennessee 37203; Division of Pediatric Genetics and Metabolism (H.J.S., R.Z.), University of Florida, Gainesville, Florida 32610; Cedars-Sinai Medical Center (O.K.G.), Los Angeles, California 90048; Children's Hospital of Los Angeles (L.R.-P.), Los Angeles, California 90027; and Departments of Pediatrics (A.P.-H., E.D., E.V.) and Urology (E.V.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095.

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http://dx.doi.org/10.1210/jc.2014-2605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318895PMC
February 2015

Ethanol-induced differential gene expression and acetyl-CoA metabolism in a longevity model of the nematode Caenorhabditis elegans.

Exp Gerontol 2015 Jan 18;61:20-30. Epub 2014 Nov 18.

Department of Chemistry and Biochemistry, Molecular Biology Institute, UCLA, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.exger.2014.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289658PMC
January 2015

Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair.

Proc Natl Acad Sci U S A 2014 Apr 9;111(16):6004-9. Epub 2014 Apr 9.

Department of Human Genetics, Department of Medicine, Committee on Development, Regeneration and Stem Cell Biology, Department of Pathology, Molecular Pathogenesis and Molecular Medicine and Department of Psychiatry, University of Chicago, Chicago, IL 60637.

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http://dx.doi.org/10.1073/pnas.1324242111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000833PMC
April 2014

Decitabine immunosensitizes human gliomas to NY-ESO-1 specific T lymphocyte targeting through the Fas/Fas ligand pathway.

J Transl Med 2011 Nov 7;9:192. Epub 2011 Nov 7.

Graduate Program in Physiological Sciences, David Geffen School of Medicine at UCLA, University of California Los Angeles, Los Angeles, California, 90095, USA.

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http://dx.doi.org/10.1186/1479-5876-9-192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3229551PMC
November 2011

Genomic identification of significant targets in ciliochoroidal melanoma.

Invest Ophthalmol Vis Sci 2011 May 9;52(6):3018-22. Epub 2011 May 9.

Department of Ophthalmology, University of California, Los Angeles, California, USA.

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http://dx.doi.org/10.1167/iovs.10-5864DOI Listing
May 2011

Gene expression profile correlates with T-cell infiltration and relative survival in glioblastoma patients vaccinated with dendritic cell immunotherapy.

Clin Cancer Res 2011 Mar 6;17(6):1603-15. Epub 2010 Dec 6.

Department of Neurosurgery, Brain Research Institute, The Jonsson Comprehensive Cancer Center, University of California Los Angeles, Los Angeles, California 90095-6901, USA.

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http://dx.doi.org/10.1158/1078-0432.CCR-10-2563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071163PMC
March 2011

Characterization of three cell lines derived from fine needle biopsy of choroidal melanoma with metastatic outcome.

Mol Vis 2011 Feb 25;17:607-15. Epub 2011 Feb 25.

Department of Ophthalmology, University of California, Los Angeles, The Jules Stein Eye Institute, Los Angeles, CA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3049736PMC
February 2011

IL-17A is increased in the serum and in spinal cord CD8 and mast cells of ALS patients.

J Neuroinflammation 2010 Nov 9;7:76. Epub 2010 Nov 9.

Department of Medicine, David Geffen School of Medicine at UCLA and VA Greater Los Angeles Healthcare System, 650 Charles E, Young Dr, South, Los Angeles, CA 90095-1735, USA.

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http://dx.doi.org/10.1186/1742-2094-7-76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992053PMC
November 2010

U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.

PLoS Genet 2010 Jan 29;6(1):e1000832. Epub 2010 Jan 29.

Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1000832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813426PMC
January 2010