Human lipodystrophies represent a group of diseases characterized by altered body fat amount and/or repartition and major metabolic alterations with insulin resistance leading to diabetic complications and increased cardiovascular and hepatic risk. Genetic forms of lipodystrophies are rare. Congenital generalized lipodystrophy or Berardinelli-Seip syndrome, autosomal recessive, is characterized...

High-energy diets improve growth rates and shorten the period while resulting in excessive fat deposition liver of birds. The effect different energy on lipid content transcriptome finisher Huxu chickens was examined here. A total 200 90-d-old with an average BW 1.08 kg were randomly divided into two dietary treatments. birds fed either containing 12.06 MJ ME/kg (low metabolic energy, LME) or 1...

background: trichomonas vaginalis causes trichomoniasis and metronidazole is its chosen drug for treatment. ferredoxin has role in electron transport and carbohydrate metabolism and the conversion of an inactive form of metronidazole (co) to its active form (cpr). ferredoxin gene mutations reduce gene expression and increase its resistance to metronidazole. in this study, the frequency of ferre...

Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...

background: the kiss peptins and its receptor g protein coupled receptor (gpr54) or kiss1 receptor system are being described as key signaling molecules for reproductive function in animal models and humans. they play essential roles in regulation of the hypothalamic- pituitary- gonadal (hpg) axis and the onset of puberty and fertility. objective: this study was performed to delineate the assoc...

the aim of this study was to analyze the polymorphisms existing in the 5´ flanking region, exonic, and some parts of the intronic regions as well as methylation analysis of the ednrb gene in cattle and goat. these regions were sequenced in three different breeds of cattle including sistani, golpayegani, and holstein and were compared with that of marghoz goat. the results identified that this g...

background the x-linked cyclin-dependent kinase like 5 (cdkl5/stk9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. cdkl5 mutations have been shown to be more frequent among female patients. results here we report a 6- month male patient, second child of a healthy non consanguineous in the irani...

objective(s):phenylketonuria (pku) is a genetic inborn error of phenylalanine (phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (pah), which leads to elevated levels of phe in the blood. the present study was carried out for mutation analysis of the pah gene in west azerbaijan province of iran. materials and methods:a total of 218 alleles from 40 pku...

Aicardi-Goutieres syndrome (AGS) is an inflammatory genetic disease inherited in an autosomal recessive manner. Common features of this disease are encephalopathy, splenomegaly and hepatomegaly, muscle stiffness, irritability, unstoppable crying, seizures and dilation in growth. According to previous studies, primary genes responsible for this Syndromes are as followed: TREX 1, RNASEH2A, RNASEH...