Zobrazeno 1 - 10 of 17 pro vyhledávání: '"Adam M. DeRosa"'
1
Akademický článek
Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.
Autor: Chun-Hong Xia, Bo Chang, Adam M Derosa, Catherine Cheng, Thomas W White, Xiaohua Gong
Publikováno v: PLoS ONE, Vol 7, Iss 12, p e52894 (2012)
The mouse semi-dominant Nm2249 mutation displays variable cataracts in heterozygous mice and smaller lenses with severe cataracts in homozygous mice. This mutation is caused by a Gja8(R205G) point mutation in the second extracellular loop of the Cx50
Externí odkaz: https://doaj.org/article/4a2e06b66abf4d41a27e9888d42a5a0c
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3
Knock-in of α3 connexin prevents severe cataracts caused by an α8 point mutation
Autor: Thomas W. White, Debra Cheung, Xiaohua Gong, Adam M. DeRosa, Chun-hong Xia, Bo Chang, Woo-Kuen Lo
Publikováno v: Journal of Cell Science. 119:2138-2144
A G22R point mutation in alpha8 connexin (Cx50) has been previously shown to cause a severe cataract by interacting with endogenous wild-type alpha3 connexin (Cx46) in mouse lenses. Here, we tested whether a knocked-in alpha3 connexin expressed on th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f09f54f9b6203cf893aea13dbc60cbe2
https://doi.org/10.1242/jcs.02940
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4
Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2
Autor: Catherine Cheng, Bo Chang, Thomas W. White, Xiaohua Gong, Chun-hong Xia, Adam M. DeRosa
Publikováno v: PLoS ONE
PLoS ONE, Vol 7, Iss 12, p e52894 (2012)
The mouse semi-dominant Nm2249 mutation displays variable cataracts in heterozygous mice and smaller lenses with severe cataracts in homozygous mice. This mutation is caused by a Gja8(R205G) point mutation in the second extracellular loop of the Cx50
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::557b95430b80aaa12c37444feaade636
https://pubmed.ncbi.nlm.nih.gov/23300808
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5
Zebrafish cx30.3: identification and characterization of a gap junction gene highly expressed in the skin
Autor: Thomas W. White, Gunnar Valdimarsson, Adam M. DeRosa, Liang Tao
Publikováno v: Developmental dynamics : an official publication of the American Association of Anatomists. 239(10)
We have identified and characterized a zebrafish connexin, Cx30.3. Sequence similarity analyses suggested that Cx30.3 was orthologous to both mammalian Cx26 and Cx30, known to play important roles in the skin and inner ear of mammals. Analysis of mRN
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8abbedb0f084e21a0c8ee990ad6eb4b
https://pubmed.ncbi.nlm.nih.gov/20737512
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6
The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium
Autor: Adam M. DeRosa, Xiaohua Gong, Thomas W. White, Peter R. Brink, Leping Li, Gülistan Meşe, Caterina Sellitto
Publikováno v: Experimental cell research. 315(6)
Mutations in Connexin50 (Cx50) cause cataracts in both humans and mice. The mechanism(s) behind how mutated connexins lead to a variety of cataracts have yet to be fully elucidated. Here, we tested whether the cataract inducing Cx50-S50P mutant inter
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a61dd5c678ece4660bdf339b87da71c8
https://pubmed.ncbi.nlm.nih.gov/19331825
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7
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness
Autor: Gabriele Richard, Thomas W. White, Dwan A. Gerido, Adam M. DeRosa
Publikováno v: American journal of physiology. Cell physiology. 293(1)
Mutations in the human GJB2 gene, which encodes connexin26 (Cx26), underlie various forms of hereditary deafness and skin disease. While it has proven difficult to discern the exact pathological mechanisms that cause these disorders, studies have sho
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4754854711fabc559958fb91de5d6676
https://pubmed.ncbi.nlm.nih.gov/17428836
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8
Zebrafish short fin mutations in connexin43 lead to aberrant gap junctional intercellular communication
Autor: M. Kathryn Iovine, Thomas W. White, Adam M. DeRosa, Kathryn A. Klein, Angela D. Hoptak-Solga
Publikováno v: FEBS letters. 581(17)
Mutations in the zebrafish connexin43 (cx43) gene cause the short fin phenotype, indicating that direct cell–cell communication contributes to bone length. Three independently generated cx43 alleles exhibit short segments of variable sizes, suggest
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbee06d545ed1959d7213fac759f3f53
https://pubmed.ncbi.nlm.nih.gov/17599838
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9
Functional characterization of a naturally occurring Cx50 truncation
Autor: Miduturu Srinivas, Thomas W. White, Rickie Mui, Adam M. DeRosa
Publikováno v: Investigative ophthalmologyvisual science. 47(10)
Lens connexins undergo proteolytic cleavage of their C termini during fiber maturation. Although the functional significance of this is unknown, cleavage has been correlated with changes in channel-gating properties. This study evaluates the function
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c0c9c63966de8163ed3531511e7644
https://pubmed.ncbi.nlm.nih.gov/17003442
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