Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Laryssa A. Huryn"'
Autor:
Breanna J. Beers, Morgan N. Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael R. Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Andrew J. Oler, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibiana Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena A. Walkiewicz, Jia Yan
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
PurposeThough copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine the diagnostic contribution of CNVs using
Externí odkaz:
https://doaj.org/article/5a9a5d2c1d2843bb9d22ca82e9ec744f
Autor:
Nancy Aguilera, Tao Liu, Andrew J. Bower, Joanne Li, Sarah Abouassali, Rongwen Lu, John Giannini, Maximilian Pfau, Chelsea Bender, Margery G. Smelkinson, Amelia Naik, Bin Guan, Owen Schwartz, Andrei Volkov, Alfredo Dubra, Zhuolin Liu, Daniel X. Hammer, Dragan Maric, Robert Fariss, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks, Wadih M. Zein, Laryssa A. Huryn, Johnny Tam
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-12 (2022)
The in vivo pathogenesis of the blinding retinal degeneration choroideremia is visualized, which reveals enlarged and area-disrupted retinal pigment epithelial cells, providing evidence for polymegathism in choroideremia.
Externí odkaz:
https://doaj.org/article/23f1aa92e6bc467cb2c2e52b88e2d152
Autor:
Volha V. Malechka, MD, Dat Duong, PhD, Keyla D. Bordonada, MD, Amy Turriff, MS, Delphine Blain, MS, MBA, Elizabeth Murphy, PhD, Wendy J. Introne, MD, Bernadette R. Gochuico, MD, David R. Adams, MD, PhD, Wadih M. Zein, MD, Brian P. Brooks, MD, PhD, Laryssa A. Huryn, MD, Benjamin D. Solomon, MD, Robert B. Hufnagel, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 1, Pp 100225- (2023)
Purpose: To describe the relationships between foveal structure and visual function in a cohort of individuals with foveal hypoplasia (FH) and to estimate FH grade and visual acuity using a deep learning classifier. Design: Retrospective cohort study
Externí odkaz:
https://doaj.org/article/274a7e4a1c8149b4b26877b3c0630414
Autor:
Joanne Li, Dongyi Wang, Jessica Pottenburgh, Andrew J. Bower, Samuel Asanad, Eric W. Lai, Caroline Simon, Lily Im, Laryssa A. Huryn, Yang Tao, Johnny Tam, Osamah J. Saeedi
Publikováno v:
iScience, Vol 26, Iss 1, Pp 105755- (2023)
Summary: Blood cells trapped in stasis have been reported within the microcirculation, but their relevance to health and disease has not been established. In this study, we introduce an in vivo imaging approach that reveals the presence of a previous
Externí odkaz:
https://doaj.org/article/a14b6849bfc74cf3a4ff05f428fd69ba
Autor:
Maximilian Pfau, Catherine A. Cukras, Laryssa A. Huryn, Wadih M. Zein, Ehsan Ullah, Marisa P. Boyle, Amy Turriff, Michelle A. Chen, Aarti S. Hinduja, Hermann E.A. Siebel, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks
Publikováno v:
JCI Insight, Vol 7, Iss 2 (2022)
BACKGROUND Outcome measures sensitive to disease progression are needed for ATP-binding cassette, sub-family A, member 4–associated (ABCA4-associated) retinopathy. We aimed to quantify ellipsoid zone (EZ) loss and photoreceptor degeneration beyond
Externí odkaz:
https://doaj.org/article/146b982cd8b64cd48a399486f1b3dc35
Autor:
Volha V. Malechka, Catherine A. Cukras, Emily Y. Chew, Yuri V. Sergeev, Delphine Blain, Brett G. Jeffrey, Ehsan Ullah, Robert B. Hufnagel, Brian P. Brooks, Laryssa A. Huryn, Wadih M. Zein
Publikováno v:
Genes, Vol 13, Iss 5, p 925 (2022)
The retinal dystrophy phenotype associated with CDHR1 retinopathy is clinically heterogenous. In this study, we describe the clinical and molecular findings of a retinal dystrophy cohort (10 patients) attributed to autosomal recessive CDHR1 and repor
Externí odkaz:
https://doaj.org/article/88f2263a6a49405684a7f6cf6be45eb0
Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy
Autor:
Joanne Li, Tao Liu, Oliver J. Flynn, Amy Turriff, Zhuolin Liu, Ehsan Ullah, Jianfei Liu, Alfredo Dubra, Mary A. Johnson, Brian P. Brooks, Robert B. Hufnagel, Daniel X. Hammer, Laryssa A. Huryn, Brett G. Jeffrey, Johnny Tam
Publikováno v:
Frontiers in Aging Neuroscience, Vol 13 (2021)
Dark cone photoreceptors, defined as those with diminished or absent reflectivity when observed with adaptive optics (AO) ophthalmoscopy, are increasingly reported in retinal disorders. However, their structural and functional impact remain unclear.
Externí odkaz:
https://doaj.org/article/d2b4053401d44236a0a22e03905cf2a9
Autor:
Jacob A. Parker, Shabbir H. Merchant, Sanaz Attaripour-Isfahani, Hyun Joo Cho, Patrick McGurrin, Brian P. Brooks, Albert R. La Spada, Mark Hallett, Laryssa A. Huryn, Silvina G. Horovitz
Publikováno v:
NeuroImage: Clinical, Vol 29, Iss , Pp 102561- (2021)
Spinocerebellar Ataxia type 7 (SCA7) is a neurodegenerative disease characterized by progressive cerebellar ataxia and retinal degeneration. Increasing loss of visual function complicates the use of clinical scales to track the progression of motor s
Externí odkaz:
https://doaj.org/article/0666bd62922b456a8d224f2b0b96fea8
Autor:
Jasmine Y. Serpen, Lev Prasov, Wadih M. Zein, Catherine A. Cukras, Denise Cunningham, Elizabeth C. Murphy, Amy Turriff, Brian P. Brooks, Laryssa A. Huryn
Publikováno v:
Journal of Ophthalmology, Vol 2020 (2020)
Background/Aims. Optic disc drusen (ODD) are calcified deposits of proteinaceous material in the optic disc, and their burden in ocular conditions is unknown. As ODD can be associated with visual field defects further compromising already degeneratin
Externí odkaz:
https://doaj.org/article/79d0fa9d0633491cb514ccfee4dd7282
Autor:
Stephen R. Broderick, Benjamin J. Golas, Duykhanh Pham, Christopher W. Towe, Simon G. Talbot, Andrew Kaufman, Sarina. Bains, Laryssa A. Huryn, Yoshihiro Yonekawa, Diane Carlson, Dolores Hambardzumyan, Yegnanarayana Ramanathan, Bhuvanesh Singh
Publikováno v:
Neoplasia: An International Journal for Oncology Research, Vol 12, Iss 6, Pp 476-484 (2010)
Originally identified as an oncogene activated by amplification in squamous cell carcinomas, several lines of evidence now suggest that squamous cell carcinoma-related oncogene (SCCRO; aka DCUN1D1) may play a role in the pathogenesis of a wide range
Externí odkaz:
https://doaj.org/article/176a8216b533461d8da1bd493df5dcb2