MutationFamilial comedones without dyskeratosis are a rare autosomal dominant skin disorder, characterized by the occurrence of comedones that are distributed all over the body with specific features. We have previously reported two Thai families with familial comedones with expanded phenotypic spectrum. ...
A frameshift mutation causing isolated growth hormone deficiency type 1A 来自 ResearchGate 喜欢 0 阅读量: 27 作者:P. Duquesnoy,S. Amselem,M. Gourmelen 摘要: Using a protein-binding assay which measures mainly IGF I, serum levels of insulin-like growth factor (IGF) were determined in 263 ...
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. Hum Mol Genet 2000;9:27-34.Maw MA,Corbeil D,Koch J,et al.A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration.Human Molecular Genetics. 2000...
Many different human diseases can result from a frameshift mutation. Tay Sachs disease, an inherited condition that typically results in death at a very young age, can be caused by a frameshift mutation. The genetic mutations can also be associated with the development of more common diseases, ...
Consistent with these observations, in the present case, the single-base adenine (A) insertion mutation within exon 2 produced frameshift and a premature termination codon, and thus, the mutant mRNAs are presumably degradated by NMD. The roles of transcription factor NFIX are becoming evident, ...
What genetic mutation causes neurofibromatosis type 1? Is TP53 mutation genetic? Does genetic mutation help evolution? A mutation changes the sequence CAAATGTTG to CAAATCTTG. What type of mutation has occurred? Select one: a. nonsense b. missense c. frameshift d. silent ...
Ser312/Ser333 phosphorylation does not influence MRTF-A induced actin polymerization. Recently, it was shown that a frameshift mutation of MRTF-A causes a loss of filamentous actin content in lym- phoid and myeloid lineage immune cells that leads to reduced phagocytosis and abrogation of cell...
We report a new mutation on the α2-globin gene causing α +-thalassemia (α +-thal) with a deletion of a single nucleotide (T) at amino acid residue 43 [HBA2:c.130delT or HBA2:c.131delT]. This frameshift deletion gives rise to a premature termination codon at codon 47.关键词: ...
2B). The HeLa KO38 cells had a frameshift mutation causing early termination and complete loss of XPA protein. UV irradiation of paired cell lines confirmed the NER deficiency in the XPA mutant cell lines showing that there is a reduced level of NER in KO142 (Fig. 2D). This is ...
A colony of miniature long-haired Dachshunds was developed from a foundation established by breeding two dogs that were heterozygous for a naturally occurring one-nucleotide deletion inTPP1(c.325delC). The mutation causes a frame shift and a premature stop codon.4The tissues from affected dogs ...