Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Mona Entezam"'
Autor:
Saeed Talebi, Mona Entezam, Neda Mohajer, Golnaz-Ensieh Kazemi-sefat, Masoumeh Razipour, Somayeh Ahmadloo, Aria Setoodeh, Mohammad Keramatipour
Publikováno v:
Cell Journal, Vol 18, Iss 2, Pp 229-236 (2016)
Objective The phenylalanine hydroxylase (PAH) locus has high linkage disequilibrium. Haplotypes related to this locus may thus be considered sufficiently informative for genetic diagnosis and carrier screening using multi-allelic markers. In this
Externí odkaz:
https://doaj.org/article/03546ab4cd044946880c921e9ff48ca9
Autor:
Mona Entezam, Mohammad Reza Khatami, Fereshteh Saddadi, Mohsen Ayati, Jamshid Roozbeh, Mohammad Keramatipour
Publikováno v:
Kidney Research and Clinical Practice, Vol 35, Iss 2, Pp 96-101 (2016)
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder caused by mutation in 2 genes PKD1 and PKD2. Thus far, no mutation is identified in approximately 10% of ADPKD families, which can suggest furt
Externí odkaz:
https://doaj.org/article/7bc42e5332aa4f49ab4065c8627cb8dc
Publikováno v:
Iranian Journal of Medical Sciences, Vol 34, Iss 3, Pp 186-192 (2009)
Background: Aberrant methylation of cytosine-guanine dinucleotideislands leads to inactivation of tumor suppressorgenes in breast cancer. Tumor suppressor genes are unmethylatedin normal tissue and often become hypermethylatedduring tumor formation,
Externí odkaz:
https://doaj.org/article/2d2d08caf6c4487ca0fd24c8236afcaa
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes
Autor:
Mohammad Keramatipour, Saeed Talebi, Seyede Zahra Sajedi, Golnaz-Ensieh Kazemi-sefat, Seyyed Mojtaba Mohaddes Ardebili, Masoumeh Razipour, Aria Setoodeh, Neda Mohajer, Jalal Gharesouran, Mona Entezam, Elaheh Alavinejad
Publikováno v:
Metabolic Brain Disease. 32:1685-1691
Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide allelic heterogeneity, and over 600 different disease-causing mutations in PA
Publikováno v:
Computational Biology and Chemistry. 88:107354
Hypoxia-inducible factor-1α (HIF-1α) is the oxygen sensitive subunit of HIF1 transcription factor. Its variations is associated with several diseases including different type of cancer, cardiovascular diseases, and liver and kidney failure. Despite
Autor:
Majid Fardaei, Afsaneh Taghipour Sheshdeh, Sanaz Mohammadi, Seyed Sajjad Tabei, Fatemeh Asadian, Fatemeh Sadat Tabei, Mona Entezam
Publikováno v:
Gene Reports. 18:100535
Background Usher syndrome is the most frequent cause of deaf-blindness with an autosomal recessive inheritance. It is characterized by significant clinical and genetic heterogeneity, which complicated the diagnosis and genetic counselling for affecte
Publikováno v:
Braindevelopment. 41(2)
Microcephaly is a rare neurological disorder, occurs in both isolated and syndromic forms. This classification could be confusing in rare disorders with variable phenotypic characteristics. However, identification of the causative gene through geneti
Autor:
Elaheh, Alavinejad, Seyede Zahra, Sajedi, Masoumeh, Razipour, Mona, Entezam, Neda, Mohajer, Aria, Setoodeh, Saeed, Talebi, Mohammad, Keramatipour
Publikováno v:
Avicenna Journal of Medical Biotechnology
Background: Phenylalanine hydroxylase (PAH) gene is the well-known causative gene for classic Phenylketonuria (PKU) (OMIM#261600) disease, with more than 500 reported mutations. Through this study, a novel mutation in the PAH gene in an Iranian pedig
Publikováno v:
Iranian Journal of Public Health
Background: Expansion of GAA trinucleotide repeats is the molecular basis of Friedreich’s ataxia (FRDA). Precise detection of the GAA expansion repeat in frataxin gene has always been a challenge. Different molecular methods have been suggested for
Publikováno v:
ResearcherID
Europe PubMed Central
Europe PubMed Central
Aromatase catalyzes the last and rate-limiting step in estrogen biosynthesis. Inhibition of estrogen production is a common strategy for breast cancer treatment. Citrus flavonoids have been confirmed to exhibit efficacious biological activities, part