[PDF] Top 20 Molecular diagnosis of familial hypercholesterolemia and functional characterization of missense variants in the LDLR gene
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Molecular diagnosis of familial hypercholesterolemia and functional characterization of missense variants in the LDLR gene
... sequer LDLR à superfície ...no LDLR, sugerindo a sua neutralidade, pois obtiveram-se valores de fluorescência, associados à expressão e atividades de ligação e internalização, comparáveis ao ... See full document
94
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia
... 1800 variants have been described in the LDLR of patients with a clinical diagnosis of familial hypercholesterolaemia; however, less than 15% have functional ... See full document
10
Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratification
... patients. The lipid profile of patients genetically identified as having FH, before and under medication, were analyzed to assess whether these patients were receiving appropriate ...treatment. ... See full document
15
Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations
... Familial hypercholesterolemia (FH) results from defective low-density lipoprotein receptor (LDLR) activity, mainly due to LDLR gene ...defects. Of the many different ... See full document
7
Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica
... frameshift variants, and all vari- ants that have been proven by in vitro functional assays that lead to <2% LDLR activity were considered to be null ...other variants were ... See full document
8
Clinical and molecular characterization of portuguese patients with a clinical diagnosis of MODY
... three functional domains: a dimerization domain, a DNA-binding domain and a transactivation domain (figure ...Located in the nucleus, HNF1A acts as a homodimer, the predominant form ... See full document
58
Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia
... Familial hypercholesterolemia (FH) is a common autosomal dominant disease with an estimated world prevalence of ...defects in the gene coding for the low-density ... See full document
4
Molecular and functional changes in familial tyroid cancer
... study of unusual families with predisposition to particular types of cancer can provide fundamental insight into the tissue-specific tumor-initiating ...genes. In these families, inheritance ... See full document
126
Familial hypercholesterolaemia: molecular and functional study of LDLR mutations
... synonymous variants are assumed to be ...folding and stability, which may affect normal peptide ...affect the codon usage leading to differences in codon adaptation to tRNA pools and, ... See full document
51
Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal)
... In the 10 unrelated “possible FH” cases analyzed using the LIPOchip® Array, no mutations were ...detected. The sequencing of the promoter and the 18 exons of ... See full document
8
Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases
... Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, ... See full document
11
Six years of treatment with the HELP system of a patient with familial hypercholesterolemia
... purpose of the present report is to demonstrate the long-term efficacy and safety of heparin-induced extracorporeal lipoprotein precipitation (HELP) of LDL-c and ... See full document
8
Predictors of Family Enrollment in a Genetic Cascade Screening Program for Familial Hypercholesterolemia
... variable of this study consisted in the number of family members enrolled in the program by each family, starting from a positive ...IC. The response variable consists ... See full document
7
Characterization of genes of unknown function in Bacillus subtilis: gene regulation and functional analysis
... type of enzymes of industrial interest are ...release of cellulose and hemicellulose from their complex with lignin, depolymerization of cellulose and hemicellulose to obtain ... See full document
135
Unbiased functional clustering of gene variants with a phenotypic-linkage network.
... inferred gene–gene linkages from co- expression of ...measure the co-expression of genes, we calculated the Pearson’s correlation coefficient of their expression profiles, ... See full document
7
Amplification of the cap20 Pathogenicity Gene and Genetic Characterization Using Different Markers Molecular in
... all the C. gloeosporioides isolates from the onion showed the same profile of bands; however, the cashew isolates of the species (URM4894, URM4896, URM4900, URM4905, ... See full document
11
Functional and evolutionary characterization of the CONSTANS gene family in short-day photoperiodic flowering in soybean.
... role in photoperiodic flowering control of ...about the function of the CO gene family in soybean and the molecular mechanisms underlying short-day ... See full document
14
Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.
... eight variants of this residue (Figure ...reference in all tested conditions, and R1699K, discussed below, all other variants showed low TA values in all ranges of ... See full document
10
Identification and molecular characterization of bone-related micrornas: functional implications
... features of miR-223 hairpin among vertebrate species. a) Alignment of predicted pre-miR-223 from 46 species using ...where the height of each letter is made proportional to its frequency ... See full document
240
Identification and functional characterization of gene components of Type VI Secretion system in bacterial genomes.
... Analysis of completely sequenced genomes of various species and strains of each of the organisms appeared to suggest that the avirulent species lacked T6SS orthologs ... See full document
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