Search Results - "Sidjanin, Duska J."

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by Liegel, Ryan P., Handley, Mark T., Ronchetti, Adam, Brown, Stephen, Langemeyer, Lars, Linford, Andrea, Chang, Bo, Morris-Rosendahl, Deborah J., Carpanini, Sarah, Posmyk, Renata, Harthill, Verity, Sheridan, Eamonn, Abdel-Salam, Ghada M.H., Terhal, Paulien A., Faravelli, Francesca, Accorsi, Patrizia, Giordano, Lucio, Pinelli, Lorenzo, Hartmann, Britta, Ebert, Allison D., Barr, Francis A., Aligianis, Irene A., Sidjanin, Duska J.

“…blind sterile (bs) is a spontaneous autosomal-recessive mouse mutation discovered more than 30 years ago. Phenotypically, bs mice exhibit nuclear cataracts and…”
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Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation by Handley, Mark T., Carpanini, Sarah M., Mali, Girish R., Sidjanin, Duska J., Aligianis, Irene A., Jackson, Ian J., FitzPatrick, David R.

“…RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a…”
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ADAM17 transactivates EGFR signaling during embryonic eyelid closure by Hassemer, Eryn L, Endres, Bradley, Toonen, Joseph A, Ronchetti, Adam, Dubielzig, Richard, Sidjanin, Duska J

“…During mammalian embryonic eyelid closure ADAM17 has been proposed to play a role as a transactivator of epidermal growth factor receptor (EGFR) signaling by…”
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Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts by Merath, Kate, Ronchetti, Adam, Sidjanin, Duska J

“…The goal of this study was to functionally evaluate three previously uncharacterized heat shock factor protein 4 (HSF4) mutations (c.595_599delGGGCC,…”
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Type I Interferon Counteracts Antiviral Effects of Statins in the Context of Gammaherpesvirus Infection by Lange, Philip T, Darrah, Eric J, Vonderhaar, Emily P, Mboko, Wadzanai P, Rekow, Michaela M, Patel, Shailendra B, Sidjanin, Duska J, Tarakanova, Vera L

“…The cholesterol synthesis pathway is a ubiquitous cellular biosynthetic pathway that is attenuated therapeutically by statins. Importantly, type I interferon…”
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Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l) gene by Toonen, Joseph, Liang, Lina, Sidjanin, Duska J

“…Waved with open eyelids 2 (woe2) is a novel autosomal recessive mouse mutation that arose spontaneously in our animal facility. Upon initial evaluation, mutant…”
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spontaneous mutation in Srebf2 leads to cataracts and persistent skin wounds in the lens opacity 13 (lop13) mouse by Merath, Kate M, Chang, Bo, Dubielzig, Richard, Jeannotte, Richard, Sidjanin, Duska J

“…Lens opacity 13 (lop13) is a spontaneous, autosomal recessive mouse mutant that exhibits nuclear cataracts. Histological analysis revealed swollen lens fiber…”
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Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod–cone degeneration interval and identifies ancestral disease-transmitting chromosome by Goldstein, Orly, Zangerl, Barbara, Pearce-Kelling, Sue, Sidjanin, Duska J., Kijas, James W., Felix, Jeanette, Acland, Gregory M., Aguirre, Gustavo D.

“…Canine progressive rod–cone degeneration (prcd) is a retinal disease previously mapped to a broad, gene-rich centromeric region of canine chromosome 9. As…”
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Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3 by Sidjanin, Duska J., Lowe, Jennifer K., McElwee, John L., Milne, Bruce S., Phippen, Taryn M., Sargan, David R., Aguirre, Gustavo D., Acland, Gregory M., Ostrander, Elaine A.

“…Cone degeneration (cd ) is an autosomal recessive canine disease that occurs naturally in the Alaskan Malamute and German Shorthaired Pointer breeds. It is…”
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Radiation hybrid mapping of cataract genes in the dog by Hunter, Linda S, Sidjanin, Duska J, Johnson, Jennifer L, Zangerl, Barbara, Galibert, Francis, Andre, Catherine, Kirkness, Ewen, Talamas, Elijah, Acland, Gregory M, Aguirre, Gustavo D

“…To facilitate the molecular characterization of naturally occurring cataracts in dogs by providing the radiation hybrid location of 21 cataract-associated…”
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Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice by Park, Anna Kyunglim, Liegel, Ryan P, Ronchetti, Adam, Ebert, Allison D, Geurts, Aron, Sidjanin, Duska J

“…Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain,…”
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Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia by Hunter, Linda S, Sidjanin, Duska J, Hijar, Manuel Villagrasa, Johnson, Jennifer L, Kirkness, Ewen, Acland, Gregory M, Aguirre, Gustavo D

“…Mutations in PAX6 cause human aniridia. The small eye (sey) mouse represents an animal model for aniridia. However, no large animal model currently exists. We…”
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Identification of two novel mutations in families with X-linked ocular albinism by Iannaccone, Alessandro, Gallaher, Kevin T, Buchholz, Janda, Jennings, Barbara J, Neitz, Maureen, Sidjanin, D J

“…Our goal was to evaluate the OA1 gene, also known as G-protein coupled receptor 143 (GPR143), in two United States families, one from the mid-west and one from…”
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Waved with open eyelids 2 gene by Toonen, Joseph, Liang, Lina, Sidjanin, Duska J

“…Waved with open eyelids 2 (woe2) is a novel autosomal recessive mouse mutation that arose spontaneously in our animal facility. Upon initial evaluation, mutant…”
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Targeted disruption of Tbc1d20with zinc-finger nucleases causes cataracts and testicular abnormalities in mice by Park, Anna Kyunglim, Liegel, Ryan P, Ronchetti, Adam, Ebert, Allison D, Geurts, Aron, Sidjanin, Duska J

“…Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain,…”
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Mapping of the autosomal dominant cataract mutation (Coc) on mouse chromosome 16 by Sidjanin, DJ, Grimes, PA, Pretsch, W, Neuhauser-Klaus, A, Favor, J, Stambolian, DE

“…To characterize the mouse cataract mutation Coc. Coc is an X-radiation-induced autosomal dominant cataract mutation maintained on a murine C3H inbred strain…”
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