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Combination of Angiotensin Converting Enzyme Insertion/Deletion (I/D) (rs4646994) and VEGF Polymorphism (+405G/C; rs2010963) Synergistically Associated With the Development, of Albuminuria in Iranian Patients With Type 2 Diabetes
Vascular Endothelial Growth Factor Albuminuria Diabetes Mellitus Genetic Polymorphism
2015/10/20
Background: Angiotensin-converting enzyme (ACE) insertion/deletion (I/D) and vascular endothelial growth factor (VEGF) polymorphisms have been shown to associate with diabetic nephropathy (DN).
Shp2 deletion in post-migratory neural crest cells results in impaired cardiac sympathetic innervation
Shp2 pERK Bradycardia
2015/5/25
Autonomic innervation of the heart begins in utero and continues during the neonatal phase of life. A balance between the sympathetic and parasympathetic arms of the autonomic nervous system is requir...
Nf1-DEFICIENT MICE DISPLAY SOCIAL LEARNING DEFICITS THAT ARE RESCUED BY THE DELETION OF PAK1 GENE
Neurofibromatosis type 1 (NF1) social learning p21-activated kinase 1 (PAK1) MAPK prefrontal cortex basolateral amygdala
2015/5/21
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder that affects roughly 1 in 3500 individuals. In addition to physical features (e.g., neurofibromas), developmental disorders are also common ...
Deletion and Testicular Expression of DAZ (Deleted in Azoospermia) Gene in Patients with Non-Obstructive Azoospermia
Infertility Deleted in Azoospermia Gene Y Chromosome Azoospermia Iran
2009/11/26
Background: Deletions of the DAZ (deleted in azoospermia) genes within the human Y chromosome's AZFc region are the most common cause of spermatogenesis failure. These deletions are usually assessed b...
Neural Tube Defects and 19 bp Deletion Within Intron-1 of Dihydrofolate Reductase Gene
Neural tube defects spina bifida dihydrofolate reductase
2009/6/16
Aims: Dihydrofolate reductase (DHFR) is necessary for the reduction of the ingested folates before they are used in the body metabolism. Thus, the DHFR enzyme has an important role in folate supplemen...
Insertion/deletion polymorphism in the BRCA2 nuclear localization signal
Insertion/deletion polymorphism BRCA2 nuclear localization signal
2009/3/2
Mutations in human BRCA2 confer an increased risk of female breast cancer. In this study, we found a novel insertion/deletion polymorphism (10204insAAA causing amino acid change M3332IK) in canine B...
Screening for AZF deletion in a large series of severely impaired spermatogenesis patients
AZF deletion severely impaired spermatogenesis patients
2008/12/25
Recent investigations have pointed to a high prevalence of Y chromosome submicroscopic deletions in men with severely impaired spermatogenesis. We report on the incidence in 128 infertile men, in wh...
A functional 19-base pair deletion polymorphism of dihydrofolate reductase (DHFR) and risk of breast cancer in multivitamin users
Folate dihydrofolate reductase DHFR one-carbon metabolism breast cancer multivitamins prospective study
2008/12/12
Background:Dihydrofolate reductase (DHFR) converts dihydrofolate (DHF) into tetrahydrofolate (THF) and plays an essential role in cell metabolism and cellular growth. Folic acid from multivitamins nee...