Functional deficit associated with a missense Werner syndrome mutation
نویسندگان
چکیده
منابع مشابه
A heterozygous missense SCN5A mutation associated with early repolarization syndrome.
The genetic background of early repolarization syndrome (ERS) has not been fully understood. In this study, we identified a missense SCN5A mutation and a polymorphism in a patient with ERS and characterized the functional consequences of the two variants. The functional consequences of mutant channels were investigated with the patch-clamp technique, immunocytochemical studies and real-time PCR...
متن کاملWerner syndrome associated with renal involvement.
W syndrome (WS) is an autosomal recessive disease, which is characterized by premature aging, short stature, cataract, dermal atrophy and ulcers, turning white early on hairs, alopecia, vascular calcification, diabetes mellitus, and osteoporosis.1,2 Kidney involvement is rarely seen in WS.3,4 We report a case of WS associated with end stage renal failure without any risk factor. A 29-year-old m...
متن کاملa novel missense mutation, e1623g, in the human factor viii gene associated with moderate haemophilia a
introduction: haemophilia a is the most common inherited x-linked recessive bleeding disorder. the severity of the resultant bleeding diathesis depends on the fviii levels associated with the mutation. analysis of carrier state can be made indirectly by dna linkage analysis or directly by identifying the mutation that leads to the disease. the aim of this study was to identification of the caus...
متن کاملFunctional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy
NMDA receptors (NMDARs), ligand-gated ion channels, play important roles in various neurological disorders, including epilepsy. Here we show the functional analysis of a de novo missense mutation (L812M) in a gene encoding NMDAR subunit GluN2A (GRIN2A). The mutation, identified in a patient with early-onset epileptic encephalopathy and profound developmental delay, is located in the linker regi...
متن کاملDestabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
Li Fraumeni Syndrome (LFS) is a multicancer phenotype, most commonly associated with germ-line mutations in TP53. In a kindred with LFS without an inherited TP53 mutation, we have previously reported a truncating mutation (1100delC) in CHK2, encoding a kinase that phosphorylates p53 on Ser(20). Here, we describe a CHK2 missense mutation (R145W) in another LFS family. This mutation destabilizes ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: DNA Repair
سال: 2013
ISSN: 1568-7864
DOI: 10.1016/j.dnarep.2013.03.004