Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

a novel nonsense mutation in kiaa1279 gene is associated with goldberg-shprintzen syndrome

abstract goldberg-shprintzen syndrome (omim 609460) (goshs) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. most affected individuals also have hirschsprung disease and/or gyral abnormalities of the brain. this syndrome has been shown to be associated with kiaa1279 gene mutations at 10q...

Apoptosis-inducing factor

Although the seminal paper by Kerr, Wyllie and Currie (Kerr et al., 1972), who coined the word ‘apoptosis’, stated that only nuclei but not cytoplasmic organelles would undergo major modifications in the dying cell, recent evidence suggests that no cellular compartment is spared (Ferri and Kroemer, 2001). Mitochondria are particularly affected early during the apoptotic process, and they are no...

Vitamin D Deficiency is Associated with the Metabolic Syndrome in Subjects with Type 2 Diabetes

Background and Objectives: There is convincing evidence that subjects concomitantly affected by type 2 diabetes (T2D) and metabolic syndrome (MeS) are at greater risk for cardiovascular disease (CVD). Many metabolic derangements in T2D might be attributed to poor vitamin D status. The purpose of this study was to investigate the associations among vitamin D status, MeS and glycemic status in su...

[Letter to the Editor] DNA Fragmentation Is Not Associated with Apoptosis in Zerumbone-induced HepG2 Cells

Zerumbone is a cytotoxic compound isolated from the herbal plant, Zingiber zerumbet Smith, which exhibits antitumor activity [1-2], anti-inflammatory effects and possesses anti-proliferative potentials in a variety of cell lines [3-4]. DNA fragmentation indicates an early event of apoptosis leading to cell death due to the absence of new cellular proteins synthesizing for cell survival. Previou...