Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Douglas J. Epstein"'
Autor:
Yugong Ho, Peng Hu, Michael T. Peel, Sixing Chen, Pablo G. Camara, Douglas J. Epstein, Hao Wu, Stephen A. Liebhaber
Publikováno v:
Protein & Cell, Vol 11, Iss 8, Pp 565-583 (2020)
Abstract The anterior pituitary gland drives highly conserved physiologic processes in mammalian species. These hormonally controlled processes are central to somatic growth, pubertal transformation, fertility, lactation, and metabolism. Current cell
Externí odkaz:
https://doaj.org/article/72b1afde79fd4982a8b37b6662c77052
Autor:
Benjamin M. Kahn, Tanya S. Corman, Korah Lovelace, Mingi Hong, Robert S. Krauss, Douglas J. Epstein
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 1, Pp 29-37 (2017)
Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadi
Externí odkaz:
https://doaj.org/article/587df7a79005484fbd930b0ebe072a12
Autor:
Douglas J. Epstein
Publikováno v:
Frontiers in Neuroscience, Vol 6 (2012)
The thalamus is strategically positioned within the caudal diencephalic area of the forebrain, between the mesencephalon and telencephalon. This location is important for unique aspects of thalamic function, to process and relay sensory and motor inf
Externí odkaz:
https://doaj.org/article/f79da215a82d4eb7ad6deac135d8c36e
Autor:
Ian D. Krantz, Jason A. Brant, W.H. Wilson Tang, Yi-An Ko, Marylyn D. Ritchie, Batsal Devkota, Shadi Ahmadmehrabi, Michael J. Ruckenstein, Douglas J. Epstein, Marijana Vujkovic, David R. Van Wagoner, Binglan Li, Joseph Park, Daniel J. Rader
Publikováno v:
Human Genetics. 140:957-967
While newborns and children with hearing loss are routinely offered genetic testing, adults are rarely clinically tested for a genetic etiology. One clinically actionable result from genetic testing in children is the discovery of variants in syndrom
Autor:
Kiya W. Govek, Sixing Chen, Paraskevi Sgourdou, Yao Yao, Steven Woodhouse, Tingfang Chen, Marc V. Fuccillo, Douglas J. Epstein, Pablo G. Camara
The thalamus is the principal information hub of the vertebrate brain, with essential roles in sensory and motor information processing, attention, and memory. The molecular mechanisms regulating the formation of thalamic nuclei are unclear. We apply
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d288952ee68ca8dd0312631781b8b514
https://doi.org/10.1101/2022.02.18.481097
https://doi.org/10.1101/2022.02.18.481097
Autor:
Daniel J. Rader, Shadi Ahmadmehrabi, Jason A. Brant, Douglas J. Epstein, Michael J. Ruckenstein
Publikováno v:
The Laryngoscope. 131:401-409
Literature and clinical practice around adult-onset hearing loss (HL) has traditionally focused on environmental risk factors, including noise exposure, ototoxic drug exposure, and cardiovascular disease. The most common diagnosis in adult-onset HL i
Autor:
Hao Wu, Peng Hu, Yugong Ho, Pablo G. Camara, Douglas J. Epstein, Michael T. Peel, Stephen A. Liebhaber, Sixing Chen
Publikováno v:
Protein & Cell
Protein & Cell, Vol 11, Iss 8, Pp 565-583 (2020)
Protein & Cell, Vol 11, Iss 8, Pp 565-583 (2020)
The anterior pituitary gland drives highly conserved physiologic processes in mammalian species. These hormonally controlled processes are central to somatic growth, pubertal transformation, fertility, lactation, and metabolism. Current cellular mode
Autor:
Kiya W. Govek, Sixing Chen, Paraskevi Sgourdou, Yao Yao, Steven Woodhouse, Tingfang Chen, Marc V. Fuccillo, Douglas J. Epstein, Pablo G. Camara
Publikováno v:
Cell Reports. 41:111768
The thalamus is the principal information hub of the vertebrate brain, with essential roles in sensory and motor information processing, attention, and memory. The complex array of thalamic nuclei develops from a restricted pool of neural progenitors
Autor:
Marylyn D. Ritchie, Jason A. Brant, Daniel J. Rader, Michael J. Ruckenstein, Douglas J. Epstein, Daniel Hui, Shadi Ahmadmehrabi, Joseph Park, Binglan Li
Publikováno v:
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. 166(4)
To investigate the importance of rare variants in adult-onset hearing loss.Genomic association study.Large biobank from tertiary care center.We investigated rare variants (minor allele frequency5%) in 42 autosomal dominant (DFNA) postlingual hearing
How Does the 'Cookie-Bite' Audiogram Shape Perform in Discriminating Genetic Hearing Loss in Adults?
Publikováno v:
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery. 166(3)
"Cookie-bite" or U-shaped audiograms-specifically, those showing midfrequency sensorineural hearing loss (HL)-are traditionally taught to be associated with genetic HL; however, their utility as a screening tool has not been reported. We aim to deter