missense mutation
Heterozygous HTRA1 missense mutation in CADASIL-like family disease
... was missense mutation of the high temperature requirement protease A1 (HTRA1) gene in the pro-band, which may be a pathogenic factor according to the biological software ...gene mutation, which leads ...
6
Functional characterization of a CRH missense mutation identified in an ADNFLE family.
... identified mutation is shown. The patient is a heterozygote for a missense mutation ...the mutation and the father genotype is unknown doing to the unavailability of his ...
7
A novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucoma.
... recessive mutation in the ADAMT10 gene in the NEs affected with primary glaucoma using genome wide association analysis and candidate sequencing ...a missense mutation in the exon 9 of the ADAMTS10 ...
7
Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.
... the missense mutation in exon 2 of SLC36A1 is the molecular basis for champagne dilution pheno- ...the mutation responsible for the champagne phenotype, the proof is of a statistical nature and a ...
9
Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea.
... a missense mutation substitutes a conserved tyrosine in the second Kunitz domain for a cysteine (HAI-2 ...this mutation decreases the ability of HAI-2 to inhibit the prototype gastro- intestinal ...
12
A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.
... GATA4 mutation, ...heterozygous mutation to be deleterious and the cross-species alignment of GATA4 sequences showed that the mutation occurred within a highly conserved amino ...
11
Mitochondrial Energy-Deficient Endophenotype in Autism
... this mutation, being relatively weak and nonlethal, is generally found to be a homoplasmic cause of mid-life ...the mutation in different energy-intensive ...mtDNA missense mutation at np 8993 ...
10
Large deletion in PIGL : a common mutational mechanism in CHIME
... the missense mutation ...null mutation in the opposite allele: frameshift mutation (1), nonsense mutation (1), splicing mutation (1), and large deletions ...
7
Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
... The missense mutation (E1356G) of patient 26 (exon ...this mutation has no influence on the interaction between NF1 and Ras, since it is far from the protein-protein interface of the complex (Figure ...
5
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
... APS-1, missense or nonsense mutations were mostly described, while splicing mutations were less common ...(Gly155Ser) missense mutation, here we identified the potential severe pathological ...
6
METABOLIC PARAMETERS CONCENTRATIONS IN BLOOD SERUM OF CZECH PIED BULLS DEPENDING ON SINGLE NUCLEOTIDE POLYMORPHISM OF LEPTIN GENE
... The aim of present study was to test hypothesis, that the leptin gene single nucleotide polymorphism (C/T) giving missense mutation (Arg25Cys) has an effect on concentration of blood serum total ...
3
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese
... A missense mutation ...this mutation changes the 237th position in the guanosine diphosphate dissociation inhibitor (GDI) protein from glycine to valine ...GDI1 mutation that is possibly ...
6
Rev. Assoc. Med. Bras. vol.43 número1
... Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease.. George-Hyslop P, McLachlan DC, Tuda T et al.[r] ...
5
Association of the receptor for advanced glycation end-products (RAGE) gene polymorphisms in Malaysian patients with chronic kidney disease
... a missense mutation in exon 3 of the RAGE gene which potentially regulates RAGE function (Kalea, Schmidt & Hudson, 2009), (ii) the polymorphisms in the transcriptional start site of RAGE such as ...
14
Insensibilidade completa aos andrógenos em pacientes brasileiras causada pela mutação P766A no gene do receptor androgênico.
... Androgen insensitivity syndrome (AIS) is a rare X-linked disorder, caused by mutations in the androgen receptor gene (AR), associated with a vari- ety of phenotypes in 46,XY individuals. We studied two 23 year-old twin- ...
5
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
... To estimate the total genetic load of CRYAB in our cohort of familial cases, we interrogated our cohort of >200 familial cases of congenital cataracts by genotyping closely-spaced STR markers followed by sequencing ...
15
Frequency of MELAS main mutation
... Mitochondrial diseases are a heterogeneous group of disor- ders caused by the dysfunction of the mitochondrial respi- ratory chain, the essential common pathway for aerobic ATP production. Therefore, tissues and organs ...
6
As técnicas de genética molecular na investigação e diagnóstico em bioquímica clínica
... The use of the polymerase chain reaction (PCR) and its derivatives, for the amplification of specific DNA sequences leads to the identification of the presence or absence of a certain mutation in an individual ...
76
Estudo do gene PTPN11 nos pacientes afetados pela síndrome de Noonan
... gene mutation rate in a cohort of clinically well-characterized patients with Noonan and Noonan-like syndromes and to study the genotype-phenotype ...RESULTS: Missense mutations in the PTPN11 gene were ...
8
Deficiência de 5a-redutase tipo 2: experiências de Campinas (SP) e Salvador (BA).
... tipo missense ou nonsense e, mais raramente, muta- ções que afetam o mecanismo de splicing, mutações frameshift (que alteram a fase de leitura) ou deleções completas do gene ...
9