نتایج جستجو برای: agpat2 mutation

تعداد نتایج: 291444  

A Aaleyasin L Safdarian M Aghahossieni M Rashidi, S Asadollah Z Najmi,

a:4:{s:10:"Background";s:363:"The largest percentage of failed in vitro fertilization (IVF) cycles are due to lack of implantation. As hereditary thrombophilia can cause in placentation failure, it may have a role in recurrent IVF failure. The aim of this case-control study was to determine whether or not hereditary thrombophilia is more prevalent in women with recurrent IVF failures.";s:19:"Ma...

Background: Colorectal cancer is one of the most common types of cancer and the cause of death of a large number of patients and requires investigating the causes of the disease and adopting targeted therapies. Considering the diagnostic, therapeutic, and prognostic significance of genetic markers, in the present study BRAF-V600E gene mutation was evaluated in tissue samples of colorectal cance...

Voet Th

The nature and pace of genome mutation is largely unknown. Standard methods to investigate DNA-mutation rely on arraying or sequencing DNA from a population of cells, hence the genetic composition of individual cells is lost and de novo mutation in cell(s) is concealed within the bulk signal. We developed methods based on (SNP-) arraying and next-generation sequencing of single-cell whole-genom...

Journal: :journal of family and reproductive health 0
ebrahim dastgerdy neonatology center of semnan university of medical sciences, emam khomeini hospital of garmsar gholamali mamori neonatology center of mashhad university of medical sciences, ghaem hospital of mashhad jalil afshari neonatology center of mashhad university of medical sciences, ghaem hospital of mashhad reza saeedi neonatology center of mashhad university of medical sciences, ghaem hospital of mashhad fatemeh shahbazi biology department, payame noor university, karaj unit, karaj, iran mahboobeh shirazi department of obstetrics and gynecology, tehran university of medical sciences, tehran, iran.

objective: jaundice with indirect hyperbilirubinemia is one of the most common neonatal problems that occur in 60% of term and 80% of preterm neonates but the causes are mostly unknown. it is suggested that race plays an important role in the prevalence of hyperbilirubinemia. it is a common problem in iran that worries both parents and pediatricians. it has been found that a mutation in the ugt...

Indranil Choudhuri , Kalyani Khanra, Nandan Bhattacharyya,

Background: DNA polymerase β (pol β) is a key enzyme of base excision repair pathway. It is a 1-kb gene consisting of 14 exons. Its catalytic part lies between exon 8 and exon 14. Exon 12 has a role in deoxyribonucleotide triphosphate selection for nucleotide transferase activity. Methods: Genomic DNA was isolated from ovarian carcinoma samples. Single strand conformation polymorphism...

Journal: :Diagnostic and interventional radiology 2017
Canan Altay Mustafa Seçil Tevfik Demir Tahir Atik Gülçin Akıncı Nilüfer Özdemir Kutbay Ela Keskin Temeloğlu Ilgın Yıldırım Şimşir Seçil Özışık Leyla Demir Erdal Eren Emine Burçin Tuna Hasibe Aytaç Hüseyin Onay Barış Akıncı

PURPOSE We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. METHODS A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. ...

Journal: :Frontiers in bioscience : a journal and virtual library 2001
D W Leung

Lysophosphatidic acid (LPA) and phosphatidic acid (PA) are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. LPA acyltransferase (LPAAT), also known as 1-acyl sn-glycerol-3-phosphate acyltransferase (1-AGPAT) (EC 2.3.1.51), catalyzes the conversion of LPA to PA. Two human isoforms of LPAAT, designated as LPAAT-alpha (AGPAT1) and LPAAT-beta (AGPAT2), have been...

Journal: :iranian journal of basic medical sciences 0
hassan dastsooz 1department of medical genetics, shiraz university of medical sciences, shiraz, iran nazanin vahedi 1department of medical genetics, shiraz university of medical sciences, shiraz, iran majid fardaei 1department of medical genetics, shiraz university of medical sciences, shiraz, iran

objective(s):  denaturing high performance liquid chromatography (dhplc) is a high throughput approach for screening dna sequence variations. to assess oven calibration, cartridge performance, buffer composition and stability, the wave low and high range mutation standards are employed to ensure reproducibility and accuracy of the chromatographic analysis. the purpose of this study was to provi...

Objective(s): KRAS proto-oncogene mutation can be considered a diagnostic factor for treating various malignancies. Helicobacter pylori infection, a risk factor for stomach cancer, may cause DNA damage and genetic changes. The aim of the current study was to assess the association of gastric cancer and KRAS mutation, demographic factors, and H. pylori infection.<...

اسدزاده عقدایی, حمید, بهبودی فرح بخش, فائقه, مقصودی, حسین, ناظم الحسینی مجرد, احسان,

Background: Familial adenomatous polyposis (FAP) is the most common components polyposis syndromes. It incidence is for less than 1 percent of colorectal cancer cases. FAP is characterized by germline mutations in the adenomatous polyposis coli (APC) gene. Generally, there are hundreds to thousands of adenomatous polyps in colon and rectum of patients. The aim of the current study was to evalua...

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