Keywords: جهش Frameshift; Marfan syndrome; Frameshift mutation; FBN1; Autopsy
مقالات ISI جهش Frameshift (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation
Keywords: جهش Frameshift; Autosomal dominant tubulointerstitial kidney disease (ADTKD); chronic kidney disease (CKD); mucin 1 kidney disease (MKD); hereditary kidney disease; MUC1 mutation; kidney biopsy; frameshift mutation; proteinuria;
Tfap2b mutation in mice results in patent ductus arteriosus and renal malformation
Keywords: جهش Frameshift; Transcription factor Tfap2b; Frameshift mutation; Patent ductus arteriosus; Renal formation;
Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy
Keywords: جهش Frameshift; diagnostic exome sequencing; MBD5; Frameshift mutation; Intellectual disability; Epilepsy;
Full Length ArticleGene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13)
Keywords: جهش Frameshift; Protein S; Venous thrombosis; Missense mutation; Frameshift mutation; Functional analysis;
Original articleMutational and expressional alterations of ZMPSTE24, DNA damage response-related gene, in gastric and colorectal cancers
Keywords: جهش Frameshift; ZMPSTE24; Frameshift mutation; Cancer; Expression; Microsatellite instability;
Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129Â +Â 62_65 del AATA and FGG c.1299Â +Â 4 del A
Keywords: جهش Frameshift; APTT; activated partial thromboplastin time; CHO; Chinese hamster ovary; ELISA; enzyme-linked immunosorbent assay; PAGE; polyacrylamide gel electrophoresis; PCR; polymerase chain reaction; PT; prothrombin time; RT; reverse transcriptase; SDS; sodium dodec
Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children
Keywords: جهش Frameshift; Familial hypercholesterolemia (FH); Low-density lipoprotein receptor (LDLR); Atherosclerosis; MD simulation; Arab; Saudi Arabia; Frameshift mutation; PCR; Protein structure; Cholesterol; Genetics; Coronary heart diseases (CHD);
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss
Keywords: جهش Frameshift; Autosomal recessive; C-terminus; Frameshift mutation; Hereditary hearing loss; KCNQ4;
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome
Keywords: جهش Frameshift; CdLS; Cornelia de Lange syndrome; NIPBL; Nipped-B-like; PCR; polymerase chain reaction; MLPA; Multiplex Ligation-dependent Probe Amplification; Cornelia de Lange syndrome; NIPBL; Frameshift mutation; Missense mutation;
A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis
Keywords: جهش Frameshift; MSX1; Autosomal dominant tooth agenesis; Frameshift mutation; Exome sequence
Somatic alterations of CDKN1B are associated with small bowel neuroendocrine tumors
Keywords: جهش Frameshift; Neuroendocrine tumor; small bowel neuroendocrine tumor; pancreatic neuroendocrine tumor; p27; CDKN1B; frameshift mutation
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case
Keywords: جهش Frameshift; CdLS, Cornelia de Lange Syndrome; ddCt, comparative threshold cycle method; OFC, occipitofrontal circumferenceCornelia de Lange syndrome; RAD21; Exonic copy number variants; Frameshift mutation; Germline mutation
Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease
Keywords: جهش Frameshift; GBA, glucocerebrosidaseGaucher's disease; Lethal; Hydrops fetalis; Icthyosis; Frameshift mutation
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome
Keywords: جهش Frameshift; Compound heterozygous mutation; frameshift mutation; Jervell and Lange-Nielsen syndrome; KCNQ1; KCNE1; long QT syndrome; Romano-Ward syndrome; single nucleotide polymorphism;
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption
Keywords: جهش Frameshift; Hereditary folate malabsorption; PCFT; SLC46A1; Frameshift mutation; Anemia;
A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy
Keywords: جهش Frameshift; Mitochondrial DNA; Complex I; Frameshift mutation; Myopathy; Heteroplasmy;
Functional defect of truncated hepatocyte nuclear factor-1α (G554fsX556) associated with maturity-onset diabetes of the young
Keywords: جهش Frameshift; Diabetes; Maturity-onset diabetes of the young; MODY; HNF-1α; Frameshift mutation; Dual-luciferase assay; Thai;
Identification of a novel frameshift mutation at codon 53 (−T) in the β-globin gene causing dominantly inherited β-thalassemia in a Chinese Miao family
Keywords: جهش Frameshift; Dominantly inherited β-thalassemia; Frameshift mutation; β-thalassemia intermedia; Haplotype; β-globin gene; Nonsense-mediated mRNA decay (NMD)
Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family
Keywords: جهش Frameshift; Frontotemporal dementia; Ubiquitin; Progranulin; Haploinsufficiency; Frameshift mutation;
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies
Keywords: جهش Frameshift; HNPP; PMP22 gene; Frameshift mutation
Genotoxicity of non-covalent interactions: DNA intercalators
Keywords: جهش Frameshift; Acridines; DNA intercalation; Frameshift mutation; “Petite” mutagenesis; Topoisomerase II inhibition; Covalent DNA binding
Patterns of gene duplication and functional diversification during the evolution of the AP1/SQUA subfamily of plant MADS-box genes
Keywords: جهش Frameshift; MADS-box gene; The AP1/SQUA subfamily; Evolution; Gene duplication; Alternative splicing; Frameshift mutation; Subfunctionalization
A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies
Keywords: جهش Frameshift; HNPP; PMP22 gene; Frameshift mutation;
High frequency of frameshift mutation on p53 gene in Taiwanese with non small cell lung cancer
Keywords: جهش Frameshift; Non small cell lung cancer; p53; Frameshift mutation; Hot spot;
Frameshift mutations induced by the acridine mustard ICR-191 in embryos and in the adult gill and hepatopancreas of rpsL transgenic zebrafish
Keywords: جهش Frameshift; Frameshift mutation; ICR-191; rpsL transgenic zebrafish;