Πλοήγηση ανά Θέμα "Mutation"
Αποτελέσματα 41-60 από 63
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A multifunctional RNA recognition motif in poly(A)-specific ribonuclease with cap and poly(A) binding properties
(2007)Poly(A)-specific ribonuclease (PARN) is an oligomeric, processive and cap-interacting 3′ exoribonuclease that efficiently degrades mRNA poly(A) tails. Here we show that the RNA recognition motif (RRM) of PARN harbors both ... -
Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance?
(1999)The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ... -
Mutation profile of KRAS and BRAF genes in patients with colorectal cancer: Association with morphological and prognostic criteria
(2015)KRAS and BRAF mutations are well-recognized molecular alterations during colorectal carcinogenesis, but there is little agreement on their effect on tumor characteristics. Therefore, we aimed to evaluate the distribution ... -
Netherton Syndrome: A Genotype-Phenotype Review
(2017)Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor ... -
New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis
(2019)Amyotrophic lateral sclerosis (ALS) is a rare and fatal neurodegenerative disorder. Two forms are recognized, familial (FALS) that accounts for 5–10% of ALS cases, and sporadic (SALS) that accounts for the rest. Early ... -
New mutations in gidB gene associated with streptomycin resistance in Mycobacterium tuberculosis in Greece
(2021)[No abstract available] -
A novel deep intronic SERPING1 variant as a cause of hereditary angioedema due to C1-inhibitor deficiency
(2020)Background: In about 5% of patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) no mutation in the SERPING1 gene is detected. Methods: C1-INH-HAE cases with no mutation in the coding region of ... -
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
(2020)ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous ... -
A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature
(2017)Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as ... -
On the pathogenicity of the plasminogen K330E mutation for hereditary angioedema
(2018)[No abstract available] -
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis
(2019)Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive presenile dementia and bone cysts, caused by variants in either TYROBP or TREM2. Despite the well-researched role of TREM2 and ... -
RecA: A universal drug target in pathogenic bacteria
(2018)The spread of bacterial infectious diseases due to the development of resistance to antibiotic drugs in pathogenic bacteria is an emerging global concern. Therefore, the efficacious management and prevention of bacterial ... -
Recurrence of superficial vein thrombosis in patients with varicose veins
(2016)Objective: To investigate which factors other than history of superficial vein thrombosis (SVT) are associated with recurrent spontaneous SVT episodes in patients with varicose veins (VVs). Materials and methods: Patients ... -
The Remarkable Evolutionary Plasticity of Coronaviruses by Mutation and Recombination: Insights for the COVID-19 Pandemic and the Future Evolutionary Paths of SARS-CoV-2
(2022)Coronaviruses (CoVs) constitute a large and diverse subfamily of positive-sense sin-gle-stranded RNA viruses. They are found in many mammals and birds and have great importance for the health of humans and farm animals. ... -
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome
(2018)Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, ... -
SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies
(2017)Sialic acid acetylesterase (SIAE) deficiency was suggested to lower the levels of ligands for sialic acid-binding immunoglobulin-like receptors, decreasing the threshold for B-cell activation. In humans, studies of rare ... -
SNP identification through transcriptome analysis of the european brown hare (lepus europaeus): Cellular energetics and mother's curse
(2016)The European brown hare (Lepus europaeus, Pallas 1778) is an important small game species in Europe. Due to its size and position in the food chain, as well as its life history, phenotypic variation and the relatively ... -
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
(2022)The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort ... -
Taci mutations in primary antibody deficiencies: A nationwide study in greece
(2021)Background and objectives: Monoallelic (heterozygous) or biallelic (homozygous or com-pound heterozygous) TACI mutations have been reported as the most common genetic defects in patients with common variable immunodeficiency ... -
Thumb duplication: molecular analysis of different clinical types
(2019)Purpose: Molecular analysis of different types of thumb duplication and identification of new suspected gene mutations. Materials and methods: In a series of patients operated for polydactyly, DNA was extracted from blood ...