ZFIN Lab: Semina Lab

ZFIN ID: ZDB-LAB-120530-1

Semina Lab

PI/Director:	Semina, Elena
Contact Person:	Tyler, Rebecca
Email:	rtyler@mcw.edu
URL:	http://www.chw.org/display/PPF/DocID/31793/Nav/0/router.asp
Address:	TBRC-CRI 3rd floor Medical College of Wisconsin 8701 Watertown Plank Road Milwaukee WI 53226 USA
Country:	United States
Phone:	414-955-4996
Fax:	414-955-6329
Line Designation:	mw

GENOMIC FEATURES ORIGINATING FROM THIS LAB

Show all 15 genomic features

STATEMENT OF RESEARCH INTERESTS

LAB MEMBERS

Tyler, Rebecca Administrative Staff

ZEBRAFISH PUBLICATIONS OF LAB MEMBERS

Seese, S.E., Muheisen, S., Gath, N., Gross, J.M., Semina, E.V. (2022) Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development. Developmental Dynamics : an official publication of the American Association of Anatomists. 252(4):510-526

Ferre-Fernández, J.J., Muheisen, S., Thompson, S., Semina, E.V. (2022) CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements. Human genomics. 16:49

Seese, S.E., Reis, L.M., Deml, B., Griffith, C., Reich, A., Jamieson, R.V., Semina, E.V. (2021) Identification of missense MAB21L1 variants in microphthalmia and aniridia. Human Mutation. 42(7):877-890

Seese, S.E., Deml, B., Muheisen, S., Sorokina, E., Semina, E.V. (2021) Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways. Developmental Dynamics : an official publication of the American Association of Anatomists. 250(8):1056-1073

Ferre-Fernández, J.J., Sorokina, E.A., Thompson, S., Collery, R.F., Nordquist, E., Lincoln, J., Semina, E.V. (2020) Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome. Human molecular genetics. 29(16):2723-2735

Reis, L.M., Sorokina, E.A., Thompson, S., Muheisen, S., Velinov, M., Zamora, C., Aylsworth, A.S., Semina, E.V. (2019) De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. American journal of human genetics. 105(2):425-433

Hendee, K.E., Sorokina, E.A., Muheisen, S.S., Reis, L.M., Tyler, R.C., Markovic, V., Cuturilo, G., Link, B.A., Semina, E.V. (2018) PITX2 deficiency and associated human disease: insights from the zebrafish model. Human molecular genetics. 27(10):1675-1695

Weh, E., Takeuchi, H., Muheisen, S., Haltiwanger, R.S., Semina, E.V. (2017) Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. PLoS One. 12:e0184903

Protas, M.E., Weh, E., Footz, T., Kasberger, J., Baraban, S.C., Levin, A.V., Katz, L.J., Ritch, R., Walter, M.A., Semina, E.V., Gould, D.B. (2017) Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. Human molecular genetics. 26:3630-3638

Greenlees, R., Mihelec, M., Yousoof, S., Speidel, D., Wu, S.K., Rinkwitz, S., Prokudin, I., Perveen, R., Cheng, A., Ma, A., Nash, B., Gillespie, R., Loebel, D.A., Clayton-Smith, J., Lloyd, I.C., Grigg, J.R., Tam, P.P., Yap, A.S., Becker, T.S., Black, G.C., Semina, E., Jamieson, R.V. (2015) Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Human molecular genetics. 24(20):5789-804

Deml, B., Reis, L.M., Muheisen, S., Bick, D., Semina, E.V. (2015) EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. Birth defects research. Part A, Clinical and molecular teratology. 103(7):630-40

Schilter, K.F., Reis, L.M., Sorokina, E.A., Semina, E.V. (2015) Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. Molecular genetics & genomic medicine. 3:490-9

Deml, B., Kariminejad, A., Borujerdi, R.H., Muheisen, S., Reis, L.M., Semina, E.V. (2015) Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts. PLoS Genetics. 11:e1005002

Pathania, M., Semina, E.V., and Duncan, M.K. (2014) Lens extrusion from Laminin alpha 1 mutant zebrafish. TheScientificWorldJournal. 2014:524929

Reis, L.M., Tyler, R.C., Muheisen, S., Raggio, V., Salviati, L., Han, D.P., Costakos, D., Yonath, H., Hall, S., Power, P., and Semina, E.V. (2013) Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Human genetics. 132(7):761-70

Liu, Y., and Semina, E.V. (2012) pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish. PLoS One. 7(1):e30896

Strungaru, M.H., Footz, T., Liu, Y., Berry, F.B., Belleau, P., Semina, E.V., Raymond, V., and Walter, M.A. (2011) PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3. Investigative ophthalmology & visual science. 52(10):7625-33

Volkmann, B.A., Zinkevich, N.S., Mustonen, A., Schilter, K.F., Bosenko, D.V., Reis, L.M., Broeckel, U., Link, B.A., and Semina, E. (2011) Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. Investigative ophthalmology & visual science. 52(3):1450-1459

Sorokina, E.A., Muheisen, S., Mlodik, N., and Semina, E.V. (2011) MIP/Aquaporin 0 Represents a Direct Transcriptional Target of PITX3 in the Developing Lens. PLoS One. 6(6):e21122