Research Article

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10/27/2009
C282Y; Diabetes mellitus type 2; H63D; Hereditary hemochromatosis; HFE; Women

Hereditary hemochromatosis is one of the most common autosomal recessive diseases; it is characterized by excess absorption of iron. Clinically, the major challenge is to diagnose increased iron deposition before irreversible tissue damage has occurred. C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with ... more

K.B. Gomes; M.G. Carvalho; F.F. Coelho; I.F. Rodrigues; A.L. Soares; D.A. Guimarães; A.P. Fernandes
12/08/2011
Antioxidant capacity; Hemochromatosis; Hemoglobin S; Hemoglobinopathy; HFE

It is well documented that Hb S and iron affect blood cells, and trigger oxidative processes and generation of free radicals with potential for lipid peroxidation. We evaluated the frequency of polymorphisms in the HFE gene in Hb AS blood donors and how these polymorphisms influenced lipid peroxidation and antioxidant capacity. Blood samples were collected from 211 Hb AS blood ... more

L.M.S. Viana-Baracioli; N.C.Tukamoto Junior; R. Júnior; L.C. Mattos; I.L. Ângulo; C.R. Bonini-Domingos
08/31/2010
L55M polymorphism; Paraoxonase; PON1; Rheumatoid arthritis

araoxonase-1 (PON1) is a high-density lipoprotein-associated enzyme that exhibits antioxidant and antiatherogenic activities. We examined a possible association between T172A (L55M) and T(-107)C polymorphisms and rheumatoid arthritis. These polymorphisms were determined in 88 rheumatoid arthritis patients and 78 healthy subjects, using the tetra-amplification refractory mutation system- ... more

M. Hashemi; A.K. Moazeni-Roodi; A. Fazaeli; M. Sandoughi; M. Taheri; G.R. Bardestani; Z. Zakeri; D.M. Kordi-Tamandani; S. Ghavami
02/23/2010
Paraoxonase; PON1; Q192R polymorphism; Rheumatoid arthritis

Decreased paraoxonase-1 (PON1) activity has been associated with rheumatoid arthritis. There are two polymorphisms in serum PON1; one differs in the amino acid at position 192 (Q192R) and the other one differs at position 55 (L55M). We looked for a possible association between Q192R polymorphism and rheumatoid arthritis. The Q192R polymorphism in 88 rheumatoid arthritis patients and 78 ... more

M. Hashemi; A.K. Moazeni-Roodi; A. Fazaeli; M. Sandoughi; G.R. Bardestani; D.M. Kordi-Tamandani; S. Ghavami
07/28/2015
Breast cancer; CYP19 gene; Gene polymorphisms; Uigur

In this study, the relationship between CYP19 gene polymorphisms and breast cancer in Xinjiang Uigur women was investigated. A case-control study was designed to compare 112 Uigur breast cancer patients with 139 Uigur healthy controls. Individuals were genotyped for the CYP19 rs10046 polymorphism using polymerase chain reaction restriction fragment length polymorphism ( ... more

L. Yang; X.Y. Wang; Y.T. Li; H.L. Wang; T. Wu; B. Wang; Q. Zhao; D. Jinsihan; L.P. Zhu
10/02/2015
Asteraceae; Echinops abuzinadianus; Endemic species; Internal transcribed spacer; Saudi Arabia

The present study explored the systematic inventory of Echinops L. (Asteraceae) of Saudi Arabia, with special reference to the molecular typing of Echinops abuzinadianus Chaudhary, an endemic species to Saudi Arabia, based on the internal transcribed spacer (ITS) sequences (ITS1-5.8S-ITS2) of nuclear ribosomal DNA. A sequence similarity search using BLAST and a ... more

M.A. Ali; F.M. Al-Hemaid; J. Lee; A.A. Hatamleh; G. Gyulai; M.O. Rahman
02/16/2017
Adult; Aged; Aged, 80 and over; Arabs; Colorectal neoplasms; Exons; Female; Humans; male; Middle Aged; Mutation; Mutation Rate; Prognosis; Proto-Oncogene Proteins p21(ras); Retrospective Studies; Saudi Arabia; Survival analysis; Young Adult

Mutations in codons 12/13 of K-ras exon 2 are associated with reduced benefit from anti-epidermal growth factor receptor antibody treatment for metastatic colorectal cancer (CRC). Here, we evaluated the frequency of K-ras mutations and their relationship with clinicopathological features and treatment outcomes in Saudi Arabian patients with CRC. The genetic status of K-ras was determined in ... more

J. Zekri; A. Al-Shehri; M. Mahrous; S. Al-Rehaily; T. Darwish; S. Bassi; E. Taani; A. Zahrani; S. Elsamany; J. Al-Maghrabi; B.B. Sadiq
06/20/2017
Antifungal Agents; Bacteria; Bacterial Proteins; Biodiversity; Biotechnology; DNA, Ribosomal; Endophytes; Genetic variation; Hydrolases; Rhizosphere; Saudi Arabia; Seawater; Wetlands

Marine bacteria have been exceptional sources of halotolerant enzymes since decades. The aim of the present study was to isolate bacteria producing hydrolytic enzymes from seven different mangroves collected from the coastal area of Thuwal, Jeddah, Saudi Arabia, and to further screen them for other enzymatic and antifungal activities. We have isolated 46 different rhizo- and endophytic ... more

F. Bibi; I. Ullah; S.A. Alvi; S.A. Bakhsh; M. Yasir; A.A.K. Al-Ghamdi; E.I. Azhar
10/21/2017
FVL; MTHFR; PTH; RSM; Saudi Arabia
Maternally inherited thrombophilia could be one of the causes of recurrent spontaneous miscarriage (RSM). We aimed to investigate the frequency of three thrombotic gene variants; factor V Leiden (FVL; G1691A), prothrombin (PTH; G20210A), and methylenetetrahydrofolate reductase (MTHFR; C677T) in Saudi patients diagnosed with RSM. A case control study was conducted ... more
F. Eldeen; A. Badawy; A. AlSel; M.S. Fawzy
04/30/2019
Breast cancer; Genetic polymorphism; HLA-G; Saudi Arabia

Human leukocyte antigen-G (HLA-G) has been associated with various immune diseases, including malignancies. The 14-base pair (bp) insertion/deletion (indel) polymorphism (rs16375) in exon 8 of the 3′ untranslated region (3′ UTR) of the HLA-G gene has been reported to influence HLA-G protein expression. We investigated the relationship between the 14-bp indel ... more

S.Y.Al Omar; L. Mansour

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