Výsledky vyhledávání - "Joseph Hostyk"

Akademický článek

A whole exome sequencing study to identify rare variants in multiplex families with alcohol use disorder

Publikováno v: Frontiers in Psychiatry, Vol 14 (2023)

BackgroundAlcohol use disorder (AUD) runs in families and is accompanied by genetic variation. Some families exhibit an extreme susceptibility in which multiple cases are found and often with an early onset of the disorder. Large scale genome-wide as

Externí odkaz: https://doaj.org/article/95d47eb0c45a4d4e929df95ec73f1382

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Myosin Mutations and Sudden Sensorineural Hearing Loss: Results of Whole Exome Sequencing

Autor: Rahul K. Sharma, Madeleine Drusin, Joseph Hostyk, Evan H. Baugh, Vimla S. Aggarwal, David Goldstein, Ana H. Kim

Publikováno v: Otologyneurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 44(1)

Idiopathic sudden sensorineural hearing loss (ISSNHL) affects 66,000 patients per year in the United States. Genetic mutations have been associated with progressive hearing loss; however, genetic mutations associated with ISSNHL have not been identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa6774539122f0c0fc8419eb15339ae
https://pubmed.ncbi.nlm.nih.gov/36509433

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Genomic analysis of 'microphenotypes' in epilepsy

Publikováno v: American Journal of Medical Genetics Part A. 188:138-146

Large international consortia examining the genomic architecture of the epilepsies focus on large diagnostic subgroupings such as "all focal epilepsy" and "all genetic generalized epilepsy". In addition, phenotypic data are generally entered into the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4808ebc2257486b0b9b058ac9b41ba12
https://doi.org/10.1002/ajmg.a.62505

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Children with Critical Illness Carry Risk Variants Despite Non-Diagnostic Whole Exome Sequencing

Autor: Joshua E. Motelow, Natalie C. Lippa, Joseph Hostyk, Evin Feldman, Matthew Nelligan, Zhong Ren, Anna Alkelai, Joshua D. Milner, Ali G. Gharavi, Yingying Tang, David B. Goldstein, Steven G. Kernie

Rapid genetic sequencing is an established and important clinical tool for management of pediatric critical illness. The burden of risk variants in children with critical illness but a non-diagnostic exome has not been explored. This was a retrospect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0513439b3d5c4851b799cc3a7433ce9c
https://doi.org/10.1101/2022.05.01.22274445

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Risk Variants in the Exomes of Children With Critical Illness

Autor: Joshua E, Motelow, Natalie C, Lippa, Joseph, Hostyk, Evin, Feldman, Matthew, Nelligan, Zhong, Ren, Anna, Alkelai, Joshua D, Milner, Ali G, Gharavi, Yingying, Tang, David B, Goldstein, Steven G, Kernie

Publikováno v: JAMA Network Open. 5:e2239122

ImportanceDiagnostic genetic testing can lead to changes in management in the pediatric intensive care unit. Genetic risk in children with critical illness but nondiagnostic exome sequencing (ES) has not been explored.ObjectiveTo assess the associati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5997b98a997479d5e758ccfe04fa5708
https://doi.org/10.1001/jamanetworkopen.2022.39122

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TMPRSS2 Transcriptional Inhibition as a Therapeutic Strategy for COVID-19

Autor: David Goldstein, Matthew Rettig, Gundula Povysil, Anthony W. Zoghbi, Ryan S. Dhindsa, Xinchen Wang, Nicholas G. Nickols, Joseph Hostyk, Joshua E. Motelow

There is an urgent need to identify effective therapies for COVID-19. The SARS-CoV-2 host factor protease TMPRSS2 is required for viral entry and thus an attractive target for therapeutic intervention. In mouse, knockout of tmprss2 led to protection

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c91008f6bd417f379df92dfbb386f4c6
https://doi.org/10.20944/preprints202003.0360.v2

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Transcriptional Inhibition of Host Viral Entry Proteins as a Therapeutic Strategy for SARS-CoV-2

Autor: Xinchen Wang, Ryan S. Dhindsa, Joshua E. Motelow, Joseph Hostyk, Gundula Povysil, David Goldstein, Anthony W. Zoghbi

There is an urgent need to identify effective therapies for COVID-19 given that a broadly available and effective vaccine is likely at least one year away. Here, we identify compounds that transcriptionally inhibit host proteins required for SARS-CoV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d23ef00eb2ebd32f8acc9e461d9f5e2

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