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HUMAN MOLECULAR GENETICS
Rivista
Codice:
E078692
ISSN:
0964-6906
Dati Generali
Dati Generali
Pubblicazioni (187)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A DINUCLEOTIDE REPEAT POLYMORPHISM (D9S202) IN THE FRIEDREICHS ATAXIA REGION ON CHROMOSOME-9Q13-Q21.1
Abstract
A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity
Articolo
A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins
Articolo
A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 deletion syndrome.
Articolo
A genome-wide association study of early menopause and the combined impact of identified variants
Articolo
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus
Articolo
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration
Articolo
A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging
Articolo
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions
Articolo
A muscle-specific DNase I-like gene in human Xq28
Articolo
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility
Articolo
A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere
Articolo
A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere
Articolo
A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases
Articolo
A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases
Articolo
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
Articolo
A strategy for the selection of transcribed sequences in the Xq28 region
Articolo
Ablation of P2X7 receptor exacerbates gliosis and motoneuron death in the SOD1-G93A mouse model of amyotrophic lateral sclerosis
Articolo
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
Articolo
Akt activation prevents the force drop induced by eccentric contractions in dystrophin-deficient skeletal muscle.
Articolo
Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes.
Articolo
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity
Articolo
Alterations in the expression, structure and function of Progesterone Receptor Membrane Component-1 (PGRMC1) in premature ovarian failure.
Articolo
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy,
Articolo
Alternative splicing in the fragile X gene FMR1
Articolo
An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new genes of the human X chromosome
Articolo
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo
Articolo
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.
Articolo
BLOCK-BASED PCR MARKERS TO FIND GENE FAMILY MEMBERS IN HUMAN AND COMPARATIVE GENOME ANALYSIS
Articolo
Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3) has a key role in the mitochondrial dysfunction induced by mutant huntingtin
Articolo
Behavioral impulsivity is associated with pupillary alterations and hyperactivity in CDKL5 mutant mice
Articolo
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
Articolo
CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder
Articolo
CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3
Articolo
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia
Articolo
Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death
Articolo
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery
Articolo
Chromosome-specific accumulation of aneuploidy in the aging mouse brain
Articolo
Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects.
Articolo
Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation
Articolo
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex
Articolo
Combined microRNA and mRNA expression analysis in pediatric multiple sclerosis: an integrated approach to uncover novel pathogenic mechanisms of the disease.
Articolo
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
Articolo
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy
Articolo
Complex Loci in human and mouse genomes.
Articolo
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
Articolo
Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy
Articolo
Curcumin dietary supplementation ameliorates disease phenotype in an animal model of Huntington's disease
Articolo
Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease
Articolo
DNA damage induced by polyglutamine-expanded proteins.
Articolo
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice.
Articolo
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy
Articolo
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour
Articolo
Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment
Articolo
Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region
Articolo
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region
Articolo
Disclosing complex mutational dynamics at a Y chromosome palindrome evolving through intra- and inter-chromosomal gene conversion
Articolo
Discovery of novel heart rate-associated loci using the Exome Chip
Articolo
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome
Articolo
Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.
Articolo
Efficient transfection of adherent cells using cell suspensions
Articolo
Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
Articolo
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
Articolo
Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant
Articolo
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
Articolo
Expression and molecular characterization of alternative transcripts of the ARHGEF5/TIM oncogene specific for human breast cancer
Articolo
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.
Articolo
Extent of linkage disequilibrium in a Sardinian sub-isolate: Sampling and methodological considerations
Articolo
Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations.
Articolo
Folic acid prevents exencephaly in Cited2 deficient mice
Articolo
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
Articolo
Foxl2 is required for commitment to ovary differentiation.
Articolo
Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.
Articolo
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.
Articolo
Galanin pathogenic mutations in temporal lobe epilepsy
Articolo
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice
Articolo
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
Articolo
Genome-wide association analysis identifies multiple loci related to resting heart rate.
Articolo
Genome-wide association analysis identifies multiple loci related with resting heart rate
Articolo
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Articolo
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
Articolo
Genome-wide meta-analysis of common variant differences between men and women.
Articolo
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
Articolo
Glutaredoxin 2 prevents aggregation of mutant SOD1 in mitochondria and abolishes its toxicity
Articolo
Glutaredoxin 2 prevents aggregation of mutant SOD1 in mitochondria and abolishes its toxicity.
Articolo
Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes.
Articolo
High-throughput genetic characterization of a cohort of Brugada syndrome patients
Articolo
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Articolo
Human TrkA(R649W) mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV
Articolo
Human deafness-associated connexin 30 T5M mutation causes hearing loss, reduces biochemical coupling among cochlear non-sensory cells in knock-in mice
Articolo
ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins.
Articolo
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum
Articolo
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
Articolo
Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology
Articolo
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
Articolo
Identification of the GlialCAM interactome: The G protein-coupled receptors GPRC5B and GPR37L1 modulate Megalencephalic leukoencephalopathy proteins.
Articolo
Identification of traf6-dependent nemo polyubiquitination sites through analysis of a new nemo mutation causing incontinentia pigmenti
Articolo
In vivo response to high-resolution variation of Tbx1 mRNA dosage
Articolo
Increased cytoplasmic TDP-43 reduces global protein synthesis by interacting with RACK1 on polyribosomes.
Articolo
Initiation of the breakage-fusion-bridge mechanism through common fragile site activation in human breast cancer cells: the model of PIP gene duplication from a break at FRA7I.
Articolo
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.
Articolo
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
Articolo
Interchromosomal repeat array interactions between chromosomes 4 and 10: A model for subtelomeric plasticity
Articolo
Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae.
Articolo
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy
Articolo
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway
Articolo
Linkage analysis conditional on HLA status in a large North American pedigree supports the presence of a multiple sclerosis susceptibility locus on chromosome 12p12.
Articolo
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.
Articolo
Long-range sequence analysis in Xq28: Thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci
Articolo
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, and X-linked inheritance.
Articolo
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling
Articolo
MSX1 and TGF-beta 3 are novel target genes functionally regulated by FOXE1
Articolo
Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications
Articolo
Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications
Articolo
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7
Articolo
Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro
Articolo
Mitochondrial redox signalling by p66Shc mediates ALS-like disease through Rac1 inactivation
Articolo
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappa B activation
Articolo
Multi-ethnic fine-mapping of 14 central adiposity loci
Articolo
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.
Articolo
Mutant cohesin drives chromosomal instability in early colorectal adenomas.
Articolo
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.
Articolo
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
Articolo
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.
Articolo
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
Articolo
NH2-truncated human tau induces deregulated mitophagy in neurons by aberrant recruitment of Parkin and UCHL-1: implications in Alzheimer's Disease.
Articolo
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models
Articolo
NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome.
Articolo
Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism
Articolo
New insights into the evolution of human y chromosome palindromes through mutation and gene conversion
Articolo
New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B
Articolo
New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B
Articolo
New susceptibility locus for hypertension on chromosome 8q by efficient pedigree-breaking in an Italian isolate
Articolo
Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy
Articolo
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia
Articolo
Pathogenetic role of the deafness-related M34T mutation of Cx26
Articolo
Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.
Articolo
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.
Articolo
Repairing folding-defective alfa-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D
Articolo
Requirement of the forkhead gene Foxe1, a target of sonic hedgehog signaling, in hair follicle morphogenesis
Articolo
Rescue of endocytosis deficits in the Oligophrenin1 mouse model of X-linked mental retardation by inhibition of the RhoA/ROCK pathway.
Articolo
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
Articolo
SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila
Articolo
SMC1 involvement in fragile site expression
Articolo
SMC1 involvement in fragile site expression. Human Molecular Genetics
Articolo
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: Definition of a small C-terminal region required for emerin function
Articolo
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing
Articolo
Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.
Articolo
TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome.
Articolo
TFIIH mutations can impact on translational fidelity of the ribosome
Articolo
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.
Articolo
Tbx1 is a negative modulator of Mef2c
Articolo
Tbx1 regulates brain vascularization.
Articolo
Tbx1 regulates extracellular matrix-cell interactions in the second heart field
Articolo
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
Articolo
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome
Articolo
The 3 UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse
Articolo
The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
Articolo
The HOPS complex subunit VPS39 controls ciliogenesis through autophagy
Articolo
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
Articolo
The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPdelta and RhoGAP2
Articolo
The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine.
Articolo
The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
Articolo
The artificial gene Jazz, a transcriptional regulator of utrophin, corrects the dystrophic pathology in mdx mice.
Articolo
The artificial gene Jazz, a transcriptional regulator of utrophin, corrects the dystrophic pathology in mdx mice.
Articolo
The chaperone-like protein 14-3-3 eta interacts with human alpha-synuclein aggregation intermediates rerouting the amyloidogenic pathway and reducing alpha-synuclein cellular toxicity
Articolo
The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone.
Articolo
The friedreich ataxia GAA triplet repeat: Premutation and normal alleles
Articolo
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci
Articolo
The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases
Articolo
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
Articolo
The mutational spectrum of human malignant autosomal recessive osteopetrosis
Articolo
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
Articolo
The p.Cys169Tyr variant of connexin 26 is not a polymorphism
Articolo
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product
Articolo
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
Articolo
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.
Articolo
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
Articolo
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
Articolo
Unveiling the degradative route of the V247M alpha-sarcoglycan mutant responsible for LGMD-2D
Articolo
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells.
Articolo
Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome.
Articolo
Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome.
Articolo
Whole chromosome aneuploidy in the brain of Bub1bH/H and Ercc1-/?7 mice
Articolo
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Articolo
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.
Articolo
YAC-ASSISTED CLONING OF TRANSCRIBED SEQUENCES FROM THE HUMAN CHROMOSOME-3P21 REGION
Articolo
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