Výsledky vyhledávání - "Roque D. Carrero-Valenzuela"

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

Autor: Dennis W. Schultz, Dante M. LaMorticella, Roque D. Carrero-Valenzuela, Michael Litt, Irene H. Maumenee, Thomas N. Mitchell, Patricia L. Kramer

Publikováno v: Human molecular genetics. 6(5)

Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ede772f7cc74e6aa538155de03c2211
https://pubmed.ncbi.nlm.nih.gov/9158139

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A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22

Autor: Dante M. LaMorticella, Patricia L. Kramer, Roque D. Carrero-Valenzuela, Everett W. Lovrien, Irene H. Maumenee, Thomas N. Mitchell, Jennifer Yount, Michael Litt

Publikováno v: Genomics. 35(3)

Congenital cataracts are one of the most common major eye abnormalities and often lead to blindness in infants. At least a third of all cases are familial. Within this group, highly penetrant, autosomal dominant forms of congenital cataracts (ADCC) a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0623b02c78ddbdeb27b85803ad3e5eb8
https://pubmed.ncbi.nlm.nih.gov/8812489

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Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3

Autor: Roque D. Carrero-Valenzuela, William H. Murphey, Michael L. Klein, Richard G. Weleber, Michael Litt

Publikováno v: Archives of ophthalmology (Chicago, Ill. : 1960). 114(6)

Sorbsy fundus dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal neovascularization and/or pigment epithelial atrophy in the macula, with onset of visual symptoms usually

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed113a653ad7b755a2d2de6056eaf37
https://pubmed.ncbi.nlm.nih.gov/8639088

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Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family

Autor: Michael Litt, Nancy G. Kennaway, Roque D. Carrero-Valenzuela, Franklin Quan, Michael Forte, Robert N. Lightowlers

Publikováno v: Gene. 102(2)

We report the isolation and sequence of a human heart cDNA coding for cytochrome c oxidase (COX) subunit Vlb (COX VIb). This cDNA extends 50 bp upstream from the region coding for the mature peptide. By Northern analysis, a single transcript of appro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::786c2ad53acb9294f924e30323ff00c0
https://pubmed.ncbi.nlm.nih.gov/1651883

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Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency

Autor: Balan Vk, Berkley R. Powell, Yu Zhong Zhang, Robert N. Lightowlers, Nancy G. Kennaway, Gary Ewart, Neil R. M. Buist, Roque D. Carrero-Valenzuela, Roderick A. Capaldi

Publikováno v: Pediatric research. 28(5)

We have reviewed the structure, function, and biogenesis of mammalian cytochrome c oxidase, examined the tissue-specific expression of isoforms of cytochrome c oxidase subunits in different mammals, and attempted to correlate the data with our knowle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68a8ed26c3dea2fa27bf155d86f7652b
https://pubmed.ncbi.nlm.nih.gov/2175025

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