Human mutation
- Label
- Human mutation (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
- Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy (Articolo in rivista) (Prodotto della ricerca)
- Characterization of the CYP21 gene 5' flanking region in patients affected by 21-OH deficiency. (Articolo in rivista) (Prodotto della ricerca)
- A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Epidemiology of the delta globin alleles in Southern Italy shows complex molecular, genetic and phenotypic features (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (Articolo in rivista) (Prodotto della ricerca)
- Two novel mutations of the AIRE protein affecting its homodimerization properties. (Articolo in rivista) (Prodotto della ricerca)
- Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. (Articolo in rivista) (Prodotto della ricerca)
- TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Criptic Haplotypes of SERPINA1 Confer Susceptibility to Chronic Obstructive Pulmonary Disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- DHPLC analysis of the MECP2 gene in Italian Rett patients (Articolo in rivista) (Prodotto della ricerca)
- Sequence variations of the alpha-globin genes: scanning of high GC content genes with DHPLC and DG-DGGE (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Polymorphism analysis within the HLA-A locus by universal oligonucleotide array (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification and computationally-based structural interpretation of naturally occurring variants of human protein C. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. (Articolo in rivista) (Prodotto della ricerca)
- Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Missense mutations in the AFG3L2 proteolytic domain account for 1.5% of European autosomal dominant Cerebellar ataxias (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Reduced clastogenic activity of maleic hydrazide in Vicia faba seedlings grown in a situation of overcrowding stress (Articolo in rivista) (Prodotto della ricerca)
- Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (Articolo in rivista) (Prodotto della ricerca)
- Myotonia caused by mutations in the muscle chloride channel gene CLCN1 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Integrating Mutation Data and Structural Analysis of the p53 Tumour-Suppressor Protein (Articolo in rivista) (Prodotto della ricerca)
- A collection of 33 novel human mtdna homoplasmic variants (Articolo in rivista) (Prodotto della ricerca)
- Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The molecular basis of phenylketonuria in Lithuania. (Articolo in rivista) (Prodotto della ricerca)
- Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti (Articolo in rivista) (Prodotto della ricerca)
- Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. (Articolo in rivista) (Prodotto della ricerca)
- Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome (Articolo in rivista) (Prodotto della ricerca)
- The molecular basis of phenylketonuria in Latvia. (Articolo in rivista) (Prodotto della ricerca)
- BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy. (Articolo in rivista) (Prodotto della ricerca)
- Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains (Articolo in rivista) (Prodotto della ricerca)
- GALT Protein Database: Querying Structural and Functional Features of GALT Enzyme (Articolo in rivista) (Prodotto della ricerca)
- BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A Gain-of-Glycosylation Mutation Associated with Myoclonus-Dystonia Syndrome Affects Trafficking and Processing of Mouse epsilon-Sarcoglycan in the Late Secretory Pathway (Articolo in rivista) (Prodotto della ricerca)
- Insertion of 16 Amino Acids in the BAR Domain of the Oligophrenin 1 Protein Causes Mental Retardation and Cerebellar Hypoplasia in an Italian Family (Articolo in rivista) (Prodotto della ricerca)
- Exon skipping-mediated dystrophin reading frame restoration for small mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A new human mtDNA polymorphism: MTND6: 14562 (C-->T). (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors (Articolo in rivista) (Prodotto della ricerca)
- Identification and computionally-based structural interpretation of naturally occuring variants of human protein C (Articolo in rivista) (Prodotto della ricerca)
- A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance (Articolo in rivista) (Prodotto della ricerca)
- Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for Total Anomalous Pulmonary Venous Return. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. (Articolo in rivista) (Prodotto della ricerca)
- A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Jagged-1 mutation analysis in italian Alagille syndrome patients (Articolo in rivista) (Prodotto della ricerca)
- Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Abnormal m RNA splicing resulting from consensus sequence splicing mutations of ATP7B. (Articolo in rivista) (Prodotto della ricerca)
- Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaulation of a microsatellite-network-based approach through six new biallelic markers. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene. (Articolo in rivista) (Prodotto della ricerca)
- LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- DeltaN133p53 expression levels in relation to haplotypes of the TP53 internal promoter region (Articolo in rivista) (Prodotto della ricerca)
- Human mtDNA site-specific variability values can act as haplogroup markers. (Articolo in rivista) (Prodotto della ricerca)
- Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alternative label
- Human mutation. (literal)
- Human mutat. (literal)
- Language
- eng (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#issn
- 1059-7794 (literal)
- Preferred label
- Human mutation (literal)
- Publisher
- Wiley-Liss, New York : USA (literal)
Incoming links:
- Rivista
- BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy. (Articolo in rivista) (Prodotto della ricerca)
- Missense mutations in the AFG3L2 proteolytic domain account for 1.5% of European autosomal dominant Cerebellar ataxias (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. (Articolo in rivista) (Prodotto della ricerca)
- A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- DHPLC analysis of the MECP2 gene in Italian Rett patients (Articolo in rivista) (Prodotto della ricerca)
- Sequence variations of the alpha-globin genes: scanning of high GC content genes with DHPLC and DG-DGGE (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Two novel mutations of the AIRE protein affecting its homodimerization properties. (Articolo in rivista) (Prodotto della ricerca)
- Myotonia caused by mutations in the muscle chloride channel gene CLCN1 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Polymorphism analysis within the HLA-A locus by universal oligonucleotide array (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaulation of a microsatellite-network-based approach through six new biallelic markers. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A Gain-of-Glycosylation Mutation Associated with Myoclonus-Dystonia Syndrome Affects Trafficking and Processing of Mouse epsilon-Sarcoglycan in the Late Secretory Pathway (Articolo in rivista) (Prodotto della ricerca)
- Insertion of 16 Amino Acids in the BAR Domain of the Oligophrenin 1 Protein Causes Mental Retardation and Cerebellar Hypoplasia in an Italian Family (Articolo in rivista) (Prodotto della ricerca)
- A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance (Articolo in rivista) (Prodotto della ricerca)
- Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. (Articolo in rivista) (Prodotto della ricerca)
- Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains (Articolo in rivista) (Prodotto della ricerca)
- Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. (Articolo in rivista) (Prodotto della ricerca)
- Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD Gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. (Articolo in rivista) (Prodotto della ricerca)
- The molecular basis of phenylketonuria in Lithuania. (Articolo in rivista) (Prodotto della ricerca)
- The molecular basis of phenylketonuria in Latvia. (Articolo in rivista) (Prodotto della ricerca)
- Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Criptic Haplotypes of SERPINA1 Confer Susceptibility to Chronic Obstructive Pulmonary Disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Epidemiology of the delta globin alleles in Southern Italy shows complex molecular, genetic and phenotypic features (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (Articolo in rivista) (Prodotto della ricerca)
- Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti (Articolo in rivista) (Prodotto della ricerca)
- BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Exon skipping-mediated dystrophin reading frame restoration for small mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Abnormal m RNA splicing resulting from consensus sequence splicing mutations of ATP7B. (Articolo in rivista) (Prodotto della ricerca)
- Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for Total Anomalous Pulmonary Venous Return. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Reduced clastogenic activity of maleic hydrazide in Vicia faba seedlings grown in a situation of overcrowding stress (Articolo in rivista) (Prodotto della ricerca)
- TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification and computationally-based structural interpretation of naturally occurring variants of human protein C. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A collection of 33 novel human mtdna homoplasmic variants (Articolo in rivista) (Prodotto della ricerca)
- Integrating Mutation Data and Structural Analysis of the p53 Tumour-Suppressor Protein (Articolo in rivista) (Prodotto della ricerca)
- A new human mtDNA polymorphism: MTND6: 14562 (C-->T). (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors (Articolo in rivista) (Prodotto della ricerca)
- Human mtDNA site-specific variability values can act as haplogroup markers. (Articolo in rivista) (Prodotto della ricerca)
- Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- DeltaN133p53 expression levels in relation to haplotypes of the TP53 internal promoter region (Articolo in rivista) (Prodotto della ricerca)
- Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. (Articolo in rivista) (Prodotto della ricerca)
- Novel XPG (ERCC5) Mutations Affect DNA Repair and Cell Survival after Ultraviolet but not Oxidative Stress. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization of the CYP21 gene 5' flanking region in patients affected by 21-OH deficiency. (Articolo in rivista) (Prodotto della ricerca)
- Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene. (Articolo in rivista) (Prodotto della ricerca)
- Jagged-1 mutation analysis in italian Alagille syndrome patients (Articolo in rivista) (Prodotto della ricerca)
- Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome (Articolo in rivista) (Prodotto della ricerca)
- GALT Protein Database: Querying Structural and Functional Features of GALT Enzyme (Articolo in rivista) (Prodotto della ricerca)
- Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy (Articolo in rivista) (Prodotto della ricerca)
- Identification and computionally-based structural interpretation of naturally occuring variants of human protein C (Articolo in rivista) (Prodotto della ricerca)
- A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)