Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Brandy L. Bowling"'
Autor:
Alison Homstad, Jarrett Burch, Elizabeth A. Finch, Gentzon Hall, Lutz Birbaumer, Brandy L. Bowling, Zhu Shan Zhang, Nirvan Mukerji, Rasheed Gbadegesin, Alison Byrd, Paul B. Rosenberg, Jason Eckel, Laura Barisoni, Peter Lavin, Michelle P. Winn, Matthew A. Sparks, Guanghong Wu
Publikováno v:
Journal of the American Society of Nephrology. 22:526-535
Mutations in the canonical transient receptor potential cation channel 6 (TRPC6) are responsible for familial forms of adult onset focal segmental glomerulosclerosis (FSGS). The mechanisms by which TRPC6 mutations cause kidney disease are not well un
Autor:
Louis Janssens, William K. Scott, David N. Howell, Michelle P. Winn, Alison Homstad, Peter J. Conlon, Peter Lavin, Guanghong Wu, Bartlomiej Bartkowiak, Chris Potocky, Elizabeth R. Hauser, Diana Abbott, Jason Eckel, Brandy L. Bowling, Rasheed Gbadegesin
Publikováno v:
Journal of the American Society of Nephrology. 21:1390-1397
FSGS is a clinicopathologic entity characterized by nephrotic syndrome and progression to ESRD. Although the pathogenesis is unknown, the podocyte seems to play a central role in this disorder. Here, we present six kindreds with hereditary FSGS that
Autor:
Gordon K. Klintworth, Brandy L. Bowling, Martin Filipec, Shomi S. Bhattacharya, Katerina Jirsova, Stephen J. Tuft, Petra Liskova, Neil D. Ebenezer, Alison J. Hardcastle
Publikováno v:
Ophthalmic Research. 40:105-108
Aims: To evaluate mutations in the transforming-growth-factor-β-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies. Methods: The coding sequence of the TGFBI gene was analysed in 22 affected Czech individual
Publikováno v:
Ophthalmology. 111:1108-1114
Purpose To characterize the clinicopathologic phenotype as well as the molecular genetic basis of an autosomal dominant form of corneal amyloidosis. Design Clinicopathologic and molecular genetic study of a family with a form of corneal amyloidosis.
Autor:
Bartlomiej Bartkowiak, Brandy L. Bowling, Tirupapuliyur V. Damodaran, Michelle P. Winn, Nirvan Mukerji, Guanghong Wu, Jason Eckel, Rasheed Gbadegesin, Peter Lavin
Focal and segmental glomerulosclerosis (FSGS) is the most common glomerular cause of end-stage kidney disease (ESKD). Although the etiology of FSGS has not been fully elucidated, recent results from the positional cloning of genes mutated in nephroti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::708103f898a8274b546bbe56f76708ec
https://europepmc.org/articles/PMC3070354/
https://europepmc.org/articles/PMC3070354/
Autor:
Petra, Liskova, Gordon K, Klintworth, Brandy L, Bowling, Martin, Filipec, Katerina, Jirsova, Stephen J, Tuft, Shomi S, Bhattacharya, Alison J, Hardcastle, Neil D, Ebenezer
Publikováno v:
Ophthalmic research. 40(2)
To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies.The coding sequence of the TGFBI gene was analysed in 22 affected Czech individuals from 7 appar
Publikováno v:
Molecular vision. 12
To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland.Genomic DNA was extracted from blood leukocytes of patients with MCD, their healthy family mem
Publikováno v:
Molecular vision. 12
To evaluate mutations in the carbohydrate sulfotransferase-6 (CHST6) gene in American subjects with macular corneal dystrophy (MCD).We analyzed CHST6 in 57 patients from 31 families with MCD from the United States, 57 carriers (parents or children),
Autor:
Brandy L. Bowling, Amy L. Adamson
Publikováno v:
Virus research. 117(2)
The Epstein-Barr virus immediate-early protein BZLF1 (Z) has been shown to alter the cellular localization of the promyelocytic leukemia (PML) protein. PML has important implications for growth control, apoptosis, anti-viral effects and many more pro
Autor:
David E, Eifrig, Natalie A, Afshari, Harry W, Buchanan, Brandy L, Bowling, Gordon K, Klintworth
Publikováno v:
Ophthalmology. 111(6)
To characterize the clinicopathologic phenotype as well as the molecular genetic basis of an autosomal dominant form of corneal amyloidosis.Clinicopathologic and molecular genetic study of a family with a form of corneal amyloidosis.Forty-nine indivi