ETIOLOGY AND PATHOGENESIS AT results from mutations in ataxia-telangiectasia mutated (ATM), which encodes a phosphatid
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Cancers Related to Immunodeficiencies: Update and Perspectives
The life span of patients with primary and secondary immunodeficiency is increasing due to recent improvements in therapeutic strategies. While the incidence of primary immunodeficiencies (PIDs) is 1:10,000 births, that of secondary immunodeficiencies are more common and are associated with posttransplantation immune dysfunction, with immunosuppressive medication for human immunodeficiency viru...
متن کاملStudying VSX1 Gene Mutations in Patients with Keratoconus of Chaharmahal and Bakhtiari Province, Iran
Background & Aims: Keratoconus (KC) is an eye disorder in which the cornea is swollen, thinned and deformed. Despite extensive studies, the pathophysiological processes and genetic etiology of KC is unknown. The disease incidence is approximately 1 in 2000 and is the most common cause of corneal transplantation in the US. Many genes are involved in the disease, but evidence suggests a major rol...
متن کاملACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
Objective To identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP). Methods Clinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP. Results A homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val)...
متن کاملP-233: Study of Chromosomal Alterations and Polymorphisms of MTHFR, Factor V and Prothrombin Genes in Patients with Recurrent Miscarriage Referred to Royan Institute
Background: Recurrent miscarriage (RM) is defined as two or more consecutive pregnancy losses before 20 weeks of gestation as an important clinical problem, with an incidence of 1-3% among couples wishing to have children. There are several factors in the etiology of recurrent miscarriage. One of the main genetic causes which involve in the pathogenesis of RM is balanced chromosomal rearrangeme...
متن کاملThe chromatin connection
Polyglutamine-expansion disease family encompasses at least nine heritable disorders, including Huntington’s disease (HD) and the spinocerebellar ataxias SCA1, SCA2, SCA3, SCA6, SCA7 and SCA17 (reviewed in ref. 1). Each of these disorders results from the expansion of a CAG repeat, coding for a glutamine tract (polyQ) that is present in the wild-type protein. While in healthy individuals the po...
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