background: despite the genetic heterogeneity reported in familial als (fals), sod1 gene mutations are the most frequent cause of fals, accounting for around 20% of familial cases (als1) and isolated sporadic cases. mutant forms of sod1 exhibit toxicity that promotes the death of motor neurons. it is well documented that fals produces protein aggregates in the motor neurons of fals patients, wh...

Ebstein anomaly is a rare heterogeneous congenital heart defect (CHD) with largely unknown etiology. We present 6-year-old girl anomaly, atrial septum defect, hypoplastic right ventricle, and persistent left superior vena cava who has de novo intragenic ~403 kb deletion of the GDP-mannose 4,6-dehydratase (GMDS) gene. GMDS located on chromosome 6p25.3 encodes rate limiting enzyme in GDP-fucose s...

Background: Pre-eclampsia is a multifactorial pregnancy specific vascular disorder characterized by hypertension and proteinuria. It affects around 3-5% pregnancies worldwide. The aetiology and pathophysiology of PE remain poorly understood. But it is generally accepted defective placentation during the early stage of pregnancy most likely in combination with maternal and environmental factors ...

chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf...

background: the majority of α-thalassemi mutations are deletions of one or both α-globin genes. since the iranian populaion is a mixture of different ethnic groups, frequency and distribution of globin mutations in various regions of the country need to be clarified. the aim of this study was to determine the common alpha globin gene deletions among individuals with hypochromic microcytic anemi...

familial adenomatous polyposis (fap) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the adenomatous polyposis coli (apc) gene on chromosome 5q21. patients with fap suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. fap has also been...

in sociolinguistics, the role of factors such as level of education in different aspects of language has always been the focus of attention. the present research, which was conducted in mashhad, seeks to study phonological processes among educated and uneducated speakers compared to standard persian. the data was gathered through field method and interview to analyze processes such as assimilat...

In a (parameterized) graph edge modification problem, we are given G, an integer k and (usually well-structured) class $$\mathcal {G}$$ of graphs, asked whether it is possible to transform G into $$G' \in \mathcal by adding and/or removing at most edges. Parameterized problems received considerable attention in the last decades. this paper, focus on finding small kernels for problems. One studi...

The vast majority of severe (Type 0) spinal muscular atrophy (SMA) cases are caused by homozygous deletions survival motor neuron 1 ( SMN1 ). We report a case in which the patient has two copies but clinically presents as Type 0 SMA. is an African American male carrying maternally inherited missense variant (c.796T>C) cis -oriented duplication on one chromosome and deletion other (genoty...