Novel missense and frameshift mutations in the adrenoleukodystrophy gene
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چکیده
منابع مشابه
Novel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia
Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...
متن کاملNovel SOX17 frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations
Extensive genomic profiling for endometrioid endometrial carcinoma (EEC) has pointed to genes and pathways important in uterine development as critical mediators of endometrial tumorigenesis. SOX17 is a developmental transcription factor necessary for proper endoderm formation that has been implicated as a tumor suppressor and shown to modulate WNT signaling. SOX17 mutation analysis in 539 prim...
متن کاملP-125: Identification of Novel Missense Mutations of The TGFBR3 Gene in Chinese Women with Premature Ovarian Failure
Background The aim of this study was to assess the ssociation between human transforming growth factor b receptor,type III (TGFBR3) and idiopathic premature ovarian failure (POF) in a Chinese population. MaterialsAndMethods A total of 112 Chinese women with idiopathic POF and 110 normal controls were examined. DNA samples prepared from blood leukocytes were used as templates for polymerase-chai...
متن کاملAssociation of Pathogenic Missense and Nonsense Mutations in Mitochondrial COII Gene with Familial Adenomatous Polyposis (FAP)
Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form of colorectal cancer and an autosomal dominant inheri...
متن کاملNovel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
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ژورنال
عنوان ژورنال: Japanese Journal of Human Genetics
سال: 1996
ISSN: 0021-5074
DOI: 10.1007/bf01876331