missense mutation
Restoring expression of wild type p53 suppresses tumor growth but does not cause tumor regression in mice with a p53 missense mutation
... are missense mutations that lead to expression of mutant proteins that not only lack p53 transcriptional activity but exhibit new functions as ...p53 missense mutations has not been ...R172H missense ...
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A Novel Missense Mutation in MVK Associated With MK Deficiency and Dyserythropoietic Anemia
... Mevalonate kinase deficiency (MKD) is a rare inborn error of metabo- lism caused by mutations in the mevalonate kinase (MVK) gene. The clinical phenotype is variable, ranging from the hyperimmunoglobu- linemia D and ...
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Original Article Detection of a novel missense mutation in the mevalonate kinase genein one Chinese family with DSAP
... novel missense mutation in the MVK gene in a Chinese family with ...any mutation in the unaffected family members or the 100 unrelated healthy controls, demonstrating that this is a novel ...
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Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto’s thyroiditis
... and HT [32]. The PTPN22 R620W SNP elicits a functional change in LYP, such that the tryptophan-bearing LYP allele cannot bind the C-terminal src kinase (Csk) [33]; this causes proliferation of T cells. Concomitantly, the ...
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Rabson Mendenhall Syndrome caused by a novel missense mutation
... homozygous missense mutation in the Insulin receptor gene confirming the diagnosis of Rabson Mendenhall ...novel mutation which has not been reported ...
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P4HB recurrent missense mutation causing Cole-Carpenter syndrome
... recurrent missense mutation in P4HB results in a very specific form of bone fragility by interfering with collagen formation, which could conceivably be associated with additional changes in deposition ...
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Intellectual disability associated with a homozygous missense mutation in THOC6
... Methods and results: Candidate gene sequencing followed by exome sequencing identified a homozygous missense mutation p.Gly46Arg, in THOC6. No other potentially causative coding variants were present within ...
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Hyperuricemia and gout caused by missense mutation in d lactate dehydrogenase
... the mutation affected the subcel- lular localization of the protein, we transfected HEK293 cells with WT and ...p.R370W missense mutation putatively alters a ...
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A recurrent missense mutation in the LPAR6 gene underlies hereditary hypotrichosis
... recurrent missense mutation in a family with hereditary hypotrichosis, designated ...This mutation was predicted to be probably harmful with a statistical score of ...
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The Prevalence of Mther 677C >T Missense Mutation, Total Plasma Homocysteine Levels and Associated Risk Factors in Malay Subjects
... The Prevalence of Mther 677C→T Missense Mutation, Total Plasma Homocysteine Levels and Associated Risk Factors in Malay Subjects ORIGINAL ARTICLE The Prevalence of MTHFR 677C 7T Missense Mutation, Tot[.] ...
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A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis
... homozygous missense mutation (H193R) in the KLOTHO (KL) gene of a 13-year-old girl who presented with severe tumoral calcinosis with dural and carotid artery ...H193R mutation onto the crystal ...
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ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
... homozygous mutation in ACO2 is associated with HSP provides further support for the central role of mitochondrial defects in the pathogenesis of spastic ...A mutation in SPG7 was found to cosegregate in a ...
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Common missense mutation G1528C in long chain 3 hydroxyacyl CoA dehydrogenase deficiency Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene
... G1528C mutation in the mRNA encod- ing for the a subunit of MTP (9, ...point mutation re- sults in the substitution of glutamate to glutamine at aminoacid position 510 in the dehydrogenase region of the ...
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Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid specific enzyme
... housekeeping and erythroid-specific isozymes. Each mutation was confirmed in genomic DNA from family members. The W283X lesion was found in another unrelated AIP family. Expression of each mutation in ...
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A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta
... To gain further insight into why the affected enamel undergoes premature clinical failure we undertook laboratory investigations of the remaining enamel on affected deciduous teeth and matched normal teeth. Fig. 3 shows ...
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A Missense Mutation in KCNJ12 Was Strongly Associated with Beef Cattle Stature
... The expression levels of KCNJ12 , MYOD , MYOG and MYHC in primary bovine skeletal muscle 228. cells serve as an excellent model system to study muscle cell differentiation in vitr[r] ...
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SUPPRESSION OF A MISSENSE MUTATION IN THE L-RIBULOKINASE GENE OF ESCHERICHIA COLI
... of them were picked, purified, and their growth in liquid mineral L-arabinose was compared to the original revertant, the wild type, and araBI4 (Figure 2).. Student's t-[r] ...
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Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): Compound heterozygous mutation in the claudin 16 (CLDN16) gene
... mis-sense mutation 646 C> T (inherited from the maternal allele) and a second novel mutation which is a splice site mutation 784 +1 G>T (inherited from the paternal allele) as shown in Figure 2 ...
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A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
... heterozygous missense mutation ...This mutation was predicted to inactivate the protein and might affect its interactions with other ...This mutation co-segregated with the disease phenotypes ...
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Evolutionary Analysis of Rett Syndrome-Causing Proteins and Their Pathogenic Missense Point Mutations: Structural Order–Disorder, Post-Translational Modifications, Evolutionary Rates, and Interacting Proteins
... Sites of pathogenic RTT-associated missense mutation in human MeCP2, CDKL5, and FOXG1. 164[r] ...
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