Reduced expression of the plasma membrane citrate transporter INDY (acronym I’m Not Dead, Yet) extends life span in lower organisms. Deletion mammalian Indy (mIndy) gene rodents improves metabolism via mechanisms akin to caloric restriction, known blood pressure (BP) by sympathoadrenal inhibition. We hypothesized that mIndy deletion attenuates support BP. Continuous arterial BP and heart rate (...

results the relative expression of mtdna copy number was 3.7 fold higher in nafld patients than healthy controls (p < 0.0001). the results remained significant after adjustment for age, bmi, and gender (p = 0.02). in addition, the mtdna copy number was 4.3 (p < 0.0001) and 3.2-fold (p < 0.0001) higher in nonalcoholic fatty liver (nafl) and non-alcoholic steatohepatitis (nash) patients than heal...

objective(s):  coronary artery disease (cad) which may lead to myocardial infarction (mi) is a complex one. great effort has been devoted to identification of genes that increase susceptibility to cad or provide protection. a 21-bp deletion in the mef2a gene, which encodes a member of the myocyte enhancer factor 2 family of transcription factors, has been reported in patients of a single pedigr...

In 2 individual cases of canine mast cell tumors, we identified 2 novel c-KIT mutations in exon 11: a 9-base pair (bp) deletion (c.1663-1671del) and a point mutation (c.1676T>A). The 9-bp deletion mutation caused a loss of 3 amino acids, corresponding to p.Gln555_Lys557del, and the point mutation resulted in the substitution of valine by aspartic acid (p.Val559Asp) in the juxtamembrane domain o...

hla-g is a non-classical hla class ib molecule with limited protein variability generated by  alternative  splicing.  hla-g   displays  immunotolerant   properties  and  hence  plays important roles in the maintenance of a successful pregnancy and maternal tolerance of the semiallogenic fetus. polymorphism of the hla-g gene may potentially affect the biological properties of the protein, and a ...

Familial adenomatous polyposis (FAP) is responsible for <1% of colorectal cancer (CRC) cases and is inherited as an autosomal dominant trait. Patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. Here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (APC) tumo...

We test here whether a class of deletions likely to result from errors during DNA replication arise preferentially during synthesis of either the leading or the lagging DNA strand. Deletions were obtained by reversion of particular insertion mutant alleles of the pBR322 amp gene. The alleles contain insertions of palindromic DNAs bracketed by 9-bp direct repeats of amp sequence; in addition, bp...

We evaluated the association between salt-sensitive hypertension and 3 different genetic polymorphisms of the renin-angiotensin system. Fifty patients with essential hypertension were classified as salt sensitive or salt resistant, depending on the presence or absence of a significant increase (P<0.05) in 24-hour ambulatory mean blood pressure (BP) after high salt intake. The insertion/deletion...