Výsledky vyhledávání - "Rojeen Shahni"

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates withYARS2mutations

Autor: Shamima Rahman, Rojeen Shahni, Keith J. Lindley, Keith Sibson, Maureen Cleary, Yehani Wedatilake

Publikováno v: American Journal of Medical Genetics. Part a

Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50452ee5afd8ef6a633221421e01675b
https://doi.org/10.1002/ajmg.a.36065

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Nop-7-associated 2 (NSA2), a candidate gene for diabetic nephropathy, is involved in the TGFβ1 pathway

Autor: Aleks Kamer Guvenel, Anna Czajka, Baljinder S. Mankoo, Rojeen Shahni, Aileen King, Afshan N. Malik

Publikováno v: The International Journal of Biochemistry & Cell Biology. 45:626-635

We recently showed that Nop-7-associated 2 (NSA2) originally described in yeast as a nuclear protein involved in ribosomal biogenesis, is a hyperglycemia induced gene involved in diabetic nephropathy [Shahni et al., Elevated levels of renal and circu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a8e5a0026926d63b8d082fa622a7f9a
https://doi.org/10.1016/j.biocel.2012.11.020

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Elevated levels of renal and circulating Nop-7-associated 2 (NSA2) in rat and mouse models of diabetes, in mesangial cells in vitro and in patients with diabetic nephropathy

Autor: Rojeen Shahni, Peter M. Jones, Aileen King, Luigi Gnudi, Afshan N. Malik

Publikováno v: Diabetologia. 55:825-834

We previously found that Nop-7-associated 2 (NSA2), which is involved in ribosomal biogenesis in yeast and is a putative cell cycle regulator in mammalian cells, is elevated in the kidney of Goto–Kakizaki (GK) rat, a spontaneous model of type 2 dia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::091541dfb18632f7eddd023e2def381e
https://doi.org/10.1007/s00125-011-2373-4

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Mitochondrial DNA as a non-invasive biomarker: Accurate quantification using real time quantitative PCR without co-amplification of pseudogenes and dilution bias

Autor: Ana Rodriguez-de-Ledesma, Phil Cunningham, Abas H. Laftah, Afshan N. Malik, Rojeen Shahni

Publikováno v: Biochemical and Biophysical Research Communications. 412:1-7

Circulating mitochondrial DNA (MtDNA) is a potential non-invasive biomarker of cellular mitochondrial dysfunction, the latter known to be central to a wide range of human diseases. Changes in MtDNA are usually determined by quantification of MtDNA re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2d3db9b6c471990cb2640abbfa9860
https://doi.org/10.1016/j.bbrc.2011.06.067

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Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation

Autor: Simon Heales, Marta Kanabus, Rojeen Shahni, Shamima Rahman, José W. Saldanha, William van’t Hoff, Elaine Murphy, Vincent Plagnol

Publikováno v: Journal of inherited metabolic disease. 38(2)

Whole exome sequencing was used to investigate the genetic cause of mitochondrial disease in two siblings with a syndrome of congenital lamellar cataracts associated with nephrocalcinosis, medullary cysts and 3-methylglutaconic aciduria. Autosomal re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01f57a7054d8ed6b6b2556c7a8065f16
https://pubmed.ncbi.nlm.nih.gov/25595726

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Increased peripheral blood mitochondrial DNA in type 2 diabetic patients with nephropathy

Autor: Rojeen Shahni, Masud M. Iqbal, Afshan N. Malik

Publikováno v: Diabetes research and clinical practice. 86(2)

We report that mitochondrial DNA (MtDNA) copy numbers are increased in peripheral blood of patients with diabetic nephropathy (DN). Using qPCR for quantitation, we found a 2-4-fold significant increase (p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dec785af5905355bac21f9ff81903ff
https://pubmed.ncbi.nlm.nih.gov/19660820

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