Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Laryssa A. Huryn"'
Autor:
Jianfei Liu, Joanne Li, Tao Liu, Rongwen Lu, Johnny Tam, Nancy Aguilera, Zhuolin Liu, Andrew J. Bower, Laryssa A. Huryn, Daniel X. Hammer, Alfredo Dubra, John Giannini
Publikováno v:
Biomed Opt Express
In vivo imaging of human retinal pigment epithelial (RPE) cells has been demonstrated through multiple adaptive optics (AO)-based modalities. However, whether consistent and complete information regarding the cellular structure of the RPE mosaic is o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b5a1d3c2db8dad3a42bf8c2d4bf0678
https://europepmc.org/articles/PMC7984802/
https://europepmc.org/articles/PMC7984802/
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
Autor:
Sarah J. Garnai, Robert B. Hufnagel, Shivani S Kamat, Ehsan Ullah, Brian P. Brooks, Shahzad I. Mian, Grant M. Comer, Bernadete Ayres, Julia E. Richards, Steven M. Archer, Monte A. Del Monte, Laryssa A. Huryn, Sayoko E Moroi, Bin Guan, Christine A Rygiel, Philip Lieu, Jasmine Y Serpen, Hemant Pawar, Laurel Wiinikka-Buesser, Lev Prasov, Cagri G. Besirli, Kayla Johnson, Susan G. Elner
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1), the relative contribution of
Autor:
Elena R. Schiff, Omar A. Mahroo, Derek Burke, Gavin Arno, Rola Ba-Abbad, Karen Pierpoint, Ehsan Ullah, Savita Nutan, Malena Daich Varela, Katie Harvey, Laryssa A. Huryn, Anthony G. Robson, Robert B. Hufnagel, Andrew R. Webster, Wadih M. Zein, Michel Michaelides, Sari Tuupanen
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics
Pathogenic variants in the gene HGSNAT (heparan-α-glucosaminide N-acetyltransferase) have been reported to underlie two distinct recessive conditions, depending on the specific genotype, mucopolysaccharidosis type IIIC (MPSIIIC)-a severe childhood-o
Autor:
Hanne Jensen, Christian Kubisch, Eyvind Rødahl, Lisbeth Tranebjærg, Leslie G. Biesecker, Katja Kloth, Thomas N. Darling, Linda Xu, Laryssa A. Huryn, Julie C. Sapp, Elisa Cinotti, Cecilie Bredrup, Jennifer J. Johnston, Ileana M. Cristea, Ove Bruland, Gunnar Houge, Emilio Di Maria
We have investigated a distinct disorder with progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro-osteolysis. In six affected individuals from fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2d2822d0a921995070f31e57ca06c12
http://hdl.handle.net/11567/934637
http://hdl.handle.net/11567/934637
Autor:
Laryssa A. Huryn, Tadafumi Yokoyama, Elena-Raluca Nicoli, Bernadette R. Gochuico, Kevin J. O'Brien, Dong Chen, Brian P. Brooks, David R. Adams, Steve Titus, Nathanial J. Tolman, Joshi Stephen, William A. Gahl, May Christine V. Malicdan
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0173682 (2017)
PLoS ONE
PLoS ONE
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with
Autor:
Mohammad Othman, Gregory L. Skuta, Laurel Wiinikka-Buesser, Jun Li, Lev Prasov, Louise C. Pyle, Alexander E. Katz, Biliana O. Veleva-Rotse, S. A. Sullivan, Sayoko E. Moroi, Robert A. Sisk, Sally A. Camper, Ayse Bilge Ozel, Laryssa A. Huryn, Sarah Sheskey, James Eadie, Frank W. Rozsa, Cheng-mao Lin, Michael Boehnke, Julia E. Richards, Jill E. Urquhart, Michelle L. Brinkmeier, Sarah J. Garnai, Steven M. Archer, Tomas S. Aleman, Robert B. Hufnagel, Ben Emery, Hemant Pawar, Graeme C.M. Black
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Genomic Ascertainment Cohort 2019, ' Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice ', PLoS Genetics, vol. 15, no. 5, pp. e1008130 . https://doi.org/10.1371/journal.pgen.1008130
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Genomic Ascertainment Cohort 2019, ' Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice ', PLoS Genetics, vol. 15, no. 5, pp. e1008130 . https://doi.org/10.1371/journal.pgen.1008130
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitu
Autor:
Gary R. Hunnicutt, Sarina Bains, Guochang Huang, Andrew J. Kaufman, Laryssa A. Huryn, Yevgeniy Romin, Russell J.H. Ryan, John H.J. Petrini, Patricia L. Morris, Bhuvanesh Singh, Y. Ramanathan, Katia Manova-Todorova, Carrie A. Adelman
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 1, p e0209995 (2019)
PLoS ONE, Vol 14, Iss 1, p e0209995 (2019)
Squamous cell carcinoma-related oncogene (SCCRO, also known as DCUN1D1) is a component of the E3 for neddylation. As such, DCUN1D1 regulates the neddylation of cullin family members. Targeted inactivation of DCUN1D1 in mice results in male-specific i
Autor:
Sarina Bains, Diane L. Carlson, Benjamin J. Golas, Simon G. Talbot, Dolores Hambardzumyan, Duykhanh Pham, Laryssa A. Huryn, Bhuvanesh Singh, Y. Ramanathan, Stephen R. Broderick, Christopher W. Towe, Andrew Kaufman, Yoshihiro Yonekawa
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
Autor:
Bhuvanesh Singh, Jaya M. Satagopan, Diane L. Carlson, Kanan Pujara, Orna Levran, Ivan Ngai, Andy Goberdhan, Leah Ben-Porat, Arleen D. Auerbach, Andrew G. Huvos, Volkert B. Wreesmann, Philip F. Giampietro, Rafaella Diotti, Laryssa A. Huryn, David I. Kutler
Publikováno v:
Scopus-Elsevier
Fanconi anemia is an autosomal recessive disorder characterized by congenital malformations, bone marrow failure, and the development of squamous cell carcinomas (SCCs) and other cancers. Recent clinicopathologic evidence has raised the possibility t
Autor:
Bhuvanesh Singh, A. Kim, Russell J.H. Ryan, Y. Ramanathan, Patricia L. Morris, Andrew J. Kaufman, Laryssa A. Huryn, A. Conway, Gary R. Hunnicutt, Katia Manova
Publikováno v:
Journal of Surgical Research. 137:224