Výsledky vyhledávání - "C R, Parrish"

Akademický článek

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 3 (2024)

Background Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams–Beuren syndrome (WBS). Its severity varies: ~20% of people with Williams–Beuren syndrome have SVAS requiring surgical intervention, whereas ~35% have no appreci

Externí odkaz: https://doaj.org/article/e2bf0005fc8048d4b610451362a2ab88

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Akademický článek

Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)

RIT1 mutations are mutually exclusive with other lung cancer drivers and lack targeted therapies. Here the authors examine genetic dependencies of mutant RIT1 with genome-wide CRISPR screens, revealing synergy between RIT1 and YAP1, and increased sen

Externí odkaz: https://doaj.org/article/06e749d7f425413a87006cc1366f2c04

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Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Nature Communications

CRISPR-based cancer dependency maps are accelerating advances in cancer precision medicine, but adequate functional maps are limited to the most common oncogenes. To identify opportunities for therapeutic intervention in other rarer subsets of cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13965f9f552d8b88b893eeabc031c85b
https://doaj.org/article/06e749d7f425413a87006cc1366f2c04

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Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome

Autor: Beth A. Kozel, Michael Lugo, Phoebe C. R. Parrish, Glennis Muldoon, Barbara R. Pober, Charles J. Billington, Zoë C. Wong, Delong Liu

Publikováno v: Am J Med Genet A

Williams–Beuren syndrome (WBS) is a multisystem disorder caused by a hemizygous deletion on 7q11.23 encompassing 26–28 genes. An estimated 2–5% of patients have “atypical” deletions, which extend in the centromeric and/or telomeric directio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3f0473069140a95fe3ad28af87d0556
https://doi.org/10.1002/ajmg.a.61522

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CRISPR base editor screens identify variant function at scale

Autor: Phoebe C. R. Parrish, Alice H. Berger

Publikováno v: Mol Cell

Cuella-Martin et al. (2020) and Hanna et al. (2020) showcase CRISPR base editing in large-scale pooled screens in human cells. Base editor screens discover both loss- and gain-of-function variants, enabling protein structure/function insights and cli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e55fa65cfa483530bfe88af2a30fa3f
https://europepmc.org/articles/PMC9017793/

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Discovery of synthetic lethal and tumor suppressive paralog pairs in the human genome

Autor: Austin M. Gabel, Alice H. Berger, Phoebe C. R. Parrish, Robert K. Bradley, James D. Thomas, Shriya Kamlapurkar

CRISPR knockout screens have accelerated the discovery of important cancer genetic dependencies. However, traditional CRISPR-Cas9 screens are limited in their ability to assay the function of redundant or duplicated genes. Paralogs in multi-gene fami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c105f54ccfe27d21e0f952c99cc3d0aa
https://doi.org/10.1101/2020.12.20.423710

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Discovery of synthetic lethal and tumor suppressor paralog pairs in the human genome

Autor: Phoebe C. R. Parrish, Alice H. Berger, Austin M. Gabel, Robert K. Bradley, James D. Thomas, Shriya Kamlapurkar

Publikováno v: Cell reports

SUMMARY CRISPR screens have accelerated the discovery of important cancer vulnerabilities. However, single-gene knockout phenotypes can be masked by redundancy among related genes. Paralogs constitute two-thirds of the human protein-coding genome, so

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d62d87ebdf23e2e8384e65f923436f5c
https://doi.org/10.1016/j.celrep.2021.109597

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior

Autor: Joseph D. Dougherty, Phoebe C. R. Parrish, Beth A. Kozel, Michael Lugo, Nathan Kopp

Publikováno v: Molecular Genetics & Genomic Medicine

Background Large, multigenic deletions at chromosome 7q11.23 result in a highly penetrant constellation of physical and behavioral symptoms known as Williams–Beuren syndrome (WS). Of particular interest is the unusual social‐cognitive profile evi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a835fa3abe957430b5db78decd57d145
https://pubmed.ncbi.nlm.nih.gov/30008175

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Tropic determinant for canine parvovirus and feline panleukopenia virus functions through the capsid protein VP2

Autor: A L Spitzer, C R Parrish, I H Maxwell

Publikováno v: Journal of General Virology. 78:925-928

Canine parvovirus (CPV) can productively infect canine and feline cell lines whereas feline panleukopenia virus (FPV) is restricted to the latter. The major determinants of tropism are two amino acids in the sequence shared by the capsid proteins, VP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ebae67260f919279394832a1e985f9
https://doi.org/10.1099/0022-1317-78-4-925

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Treatment of gastroparesis: a multidisciplinary clinical review

Autor: T L, Abell, R K, Bernstein, T, Cutts, G, Farrugia, J, Forster, W L, Hasler, R W, McCallum, K W, Olden, H P, Parkman, C R, Parrish, P J, Pasricha, C M, Prather, E E, Soffer, R, Twillman, A I, Vinik

Publikováno v: Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society. 18(4)

This clinical review on the treatment of patients with gastroparesis is a consensus document developed by the American Motility Society Task Force on Gastroparesis. It is a multidisciplinary effort with input from gastroenterologists and other specia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2122458a5cbb625a0ea315f930ed414d
https://pubmed.ncbi.nlm.nih.gov/16553582

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