Search Results - "Prasov, Lev"

Math5 defines the ganglion cell competence state in a subpopulation of retinal progenitor cells exiting the cell cycle by Brzezinski, Joseph A., Prasov, Lev, Glaser, Tom

“…The basic helix–loop–helix (bHLH) transcription factor Math5 (Atoh7) is transiently expressed during early retinal histogenesis and is necessary for retinal…”
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Nanophthalmos: A Review of the Clinical Spectrum and Genetics by Ayres, Bernadete M., Prasov, Lev, Andrade, Thais, Carricondo, Pedro Carlos, Moroi, Sayoko E.

“…Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical…”
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ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous by PRASOV, Lev, MASUD, Tehmina, KELBERMAN, Daniel, SOWDEN, Jane C, DATTANI, Mehul T, GLASER, Tom, KHALIQ, Shagufta, QASIM MEHDI, S, ABID, Aiysha, OLIVER, Edward R, SILVA, Eduardo D, LEWANDA, Amy, BRODSKY, Michael C, BORCHERT, Mark

“…The vertebrate basic helix-loop-helix (bHLH) transcription factor ATOH7 (Math5) is specifically expressed in the embryonic neural retina and is required for…”
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Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders by Serpen, Jasmine Y., Armenti, Stephen T., Prasov, Lev

“…Autoimmune and autoinflammatory diseases cause morbidity in multiple organ systems including the ocular anterior segment. Genetic disorders of the innate and…”
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The Repeat-In-Toxin Family Member TosA Mediates Adherence of Uropathogenic Escherichia coli and Survival during Bacteremia by VIGIL, Patrick D, WILES, Travis J, ENGSTROM, Michael D, PRASOV, Lev, MULVEY, Matthew A, MOBLEY, Harry L. T

“…Classifications Services IAI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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P488: Interrogating the pathologic noncoding genome with tissue-specific multiomics by Hufnagel, Robert, McGaughey, David, Mungale, Ameera, Kaya, Koray, Guan, Bin, Brinkmeier, Michelle, Prasov, Lev, Fufa, Temesgen

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Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort by Huryn, Laryssa A., Brooks, Brian P., Murphy, Elizabeth C., Cunningham, Denise, Cukras, Catherine A., Zein, Wadih M., Prasov, Lev, Serpen, Jasmine Y., Turriff, Amy

“…Background/Aims. Optic disc drusen (ODD) are calcified deposits of proteinaceous material in the optic disc, and their burden in ocular conditions is unknown…”
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A critical analysis of Atoh7 (Math5) mRNA splicing in the developing mouse retina by Prasov, Lev, Brown, Nadean L, Glaser, Tom

“…The Math5 (Atoh7) gene is transiently expressed during retinogenesis by progenitors exiting mitosis, and is essential for ganglion cell (RGC) development…”
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Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation by Bohnsack, Brenda L., Wiinikka-Buesser, Laurel, Tolia, Sahil, Marrs, Colin E. R., Al-Hasani, Hayder, Prasov, Lev, Wang, Grace M., Richards, Julia E.

“…Aniridia is a congenital disease that affects almost all eye structures and is primarily caused by loss-of-function mutations in the PAX6 gene. The degree of…”
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Genetics in Ophthalmology by Prasov, Lev, Armenti, Stephen T., Utz, Virginia Miraldi, Richards, Julia E., Hufnagel, Robert B.

“…Through thoughtful consideration and detailed examination, imaging, electrophysiology, and family history, ophthalmologists and geneticists can select…”
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Pushing the envelope of retinal ganglion cell genesis: Context dependent function of Math5 (Atoh7) by Prasov, Lev, Glaser, Tom

“…The basic-helix-loop helix factor Math5 (Atoh7) is required for retinal ganglion cell (RGC) development. However, only 10% of Math5-expressing cells adopt the…”
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Dynamic expression of ganglion cell markers in retinal progenitors during the terminal cell cycle by Prasov, Lev, Glaser, Tom

“…The vertebrate neural retina contains seven major cell types, which arise from a common multipotent progenitor pool. During neurogenesis, these cells stop…”
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eP217: Ophthalmology genetics clinic in the times of COVID-19: A hybrid model by Pritchard, Amanda, Beil, Adelyn, Innis, Jeffrey, Prasov, Lev

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Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders by Balikov, Daniel A, Jacobson, Adam, Prasov, Lev

“…Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. In many cases, glaucoma in children may go undetected,…”
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice by Garnai, Sarah J, Brinkmeier, Michelle L, Emery, Ben, Aleman, Tomas S, Pyle, Louise C, Veleva-Rotse, Biliana, Sisk, Robert A, Rozsa, Frank W, Ozel, Ayse Bilge, Li, Jun Z, Moroi, Sayoko E, Archer, Steven M, Lin, Cheng-Mao, Sheskey, Sarah, Wiinikka-Buesser, Laurel, Eadie, James, Urquhart, Jill E, Black, Graeme C M, Othman, Mohammad I, Boehnke, Michael, Sullivan, Scot A, Skuta, Gregory L, Pawar, Hemant S, Katz, Alexander E, Huryn, Laryssa A, Hufnagel, Robert B, Camper, Sally A, Richards, Julia E, Prasov, Lev

“…Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error,…”
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DDX58 (RIG-I)-related disease is associated with tissue-specific interferon pathway activation by Prasov, Lev, Bohnsack, Brenda L, El Husny, Antonette S, Tsoi, Lam C, Guan, Bin, Kahlenberg, J Michelle, Almeida, Edmundo, Wang, Haitao, Cowen, Edward W, De Jesus, Adriana A, Jani, Priyam, Billi, Allison C, Moroi, Sayoko E, Wasikowski, Rachael, Almeida, Izabela, Almeida, Luciana N, Kok, Fernando, Garnai, Sarah J, Mian, Shahzad I, Chen, Marcus Y, Warner, Blake M, Ferreira, Carlos R, Goldbach-Mansky, Raphaela, Hur, Sun, Brooks, Brian P, Richards, Julia E, Hufnagel, Robert B, Gudjonsson, Johann E

“…Singleton-Merten syndrome (SGMRT) is a rare immunogenetic disorder that variably features juvenile open-angle glaucoma (JOAG), psoriasiform skin rash, aortic…”
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Phenotypic variation in a four-generation family with aniridia carrying a novel PAX6 mutation by Wang, Grace M., Prasov, Lev, Richards, Julia, Bohnsack, Brenda

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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders by Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A, Sergeev, Yuri V, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J, Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H, Taylor, John, Downes, Susan, Krawczynski, Maciej R, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A, Moore, Anthony T, Duncan, Jacque L, Menendez, Beatriz, Hull, Sarah, Vincent, Andrea L, Siskind, Carly E, Traboulsi, Elias I, Blackstone, Craig, Sisk, Robert A, Miraldi Utz, Virginia, Webster, Andrew R, Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, Hufnagel, Robert B

“…Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism…”
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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort by Prasov, Lev, Guan, Bin, Ullah, Ehsan, Archer, Steven M., Ayres, Bernadete M., Besirli, Cagri G., Wiinikka-Buesser, Laurel, Comer, Grant M., Del Monte, Monte A., Elner, Susan G., Garnai, Sarah J., Huryn, Laryssa A., Johnson, Kayla, Kamat, Shivani S., Lieu, Philip, Mian, Shahzad I., Rygiel, Christine A., Serpen, Jasmine Y., Pawar, Hemant S., Brooks, Brian P., Moroi, Sayoko E., Richards, Julia E., Hufnagel, Robert B.

“…Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this…”
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Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic by Parekh, Bela, Beil, Adelyn, Blevins, Bridget, Jacobson, Adam, Williams, Pamela, Innis, Jeffrey W, Barone Pritchard, Amanda, Prasov, Lev

“…The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care…”
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