Human molecular genetics

Label

• Human molecular genetics (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Rescue of endocytosis deficits in the Oligophrenin1 mouse model of X-linked mental retardation by inhibition of the RhoA/ROCK pathway. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• YAC-ASSISTED CLONING OF TRANSCRIBED SEQUENCES FROM THE HUMAN CHROMOSOME-3P21 REGION (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The artificial gene Jazz, a transcriptional regulator of utrophin, corrects the dystrophic pathology in mdx mice. (Articolo in rivista) (Prodotto della ricerca)
• 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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 in rivista) (Prodotto della ricerca)
• Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. (Articolo in rivista) (Prodotto della ricerca)
• New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Altered pre-lamin A processing is a common mechanism leading to lipodystrophy, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (Articolo in rivista) (Prodotto della ricerca)
• Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Alterations in the expression, structure and function of Progesterone Receptor Membrane Component-1 (PGRMC1) in premature ovarian failure. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide association analysis identifies multiple loci related with resting heart rate (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Ablation of P2X7 receptor exacerbates gliosis and motoneuron death in the SOD1-G93A mouse model of amyotrophic lateral sclerosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The artificial gene Jazz, a transcriptional regulator of utrophin, corrects the dystrophic pathology in mdx mice. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. (Articolo in rivista) (Prodotto della ricerca)
• Tbx1 is a negative modulator of Mef2c (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells. (Articolo in rivista) (Prodotto della ricerca)
• Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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 in rivista) (Prodotto della ricerca)
• Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease. (Articolo in rivista) (Prodotto della ricerca)
• 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions (Articolo in rivista) (Prodotto della ricerca)
• Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum (Articolo in rivista) (Prodotto della ricerca)
• Mitochondrial redox signalling by p66Shc mediates ALS-like disease through Rac1 inactivation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere (Articolo in rivista) (Prodotto della ricerca)
• Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects. (Articolo in rivista) (Prodotto della ricerca)
• Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. (Articolo in rivista) (Prodotto della ricerca)
• Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. (Articolo in rivista) (Prodotto della ricerca)
• Tbx1 regulates brain vascularization. (Articolo in rivista) (Prodotto della ricerca)
• Complex Loci in human and mouse genomes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. (Articolo in rivista) (Prodotto della ricerca)
• “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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• BLOCK-BASED PCR MARKERS TO FIND GENE FAMILY MEMBERS IN HUMAN AND COMPARATIVE GENOME ANALYSIS (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• SMC1 involvement in fragile site expression. Human Molecular Genetics (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The 3'UTR of FMR1 mRNA is a target of miR101, miR129-5p and miR-221: Implications for the molecular pathology of FXTAS at the synapse. (Articolo in rivista) (Prodotto della ricerca)
• Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy (Articolo in rivista) (Prodotto della ricerca)
• Folic acid prevents exencephaly in Cited2 deficient mice (Articolo in rivista) (Prodotto della ricerca)
• Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (Articolo in rivista) (Prodotto della ricerca)
• 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 in rivista) (Prodotto della ricerca)
• Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. (Articolo in rivista) (Prodotto della ricerca)
• Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome. (Articolo in rivista) (Prodotto della ricerca)
• Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity (Articolo in rivista) (Prodotto della ricerca)
• The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation (Articolo in rivista) (Prodotto della ricerca)
• 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 in rivista) (Prodotto della ricerca)
• DNA damage induced by polyglutamine-expanded proteins. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide meta-analysis of common variant differences between men and women. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. (Articolo in rivista) (Prodotto della ricerca)
• TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome. (Articolo in rivista) (Prodotto della ricerca)
• Salt-inducible kinase 3, SIK3, is a new gene associated with hearing (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• In vivo response to high-resolution variation of Tbx1 mRNA dosage (Articolo in rivista) (Prodotto della ricerca)
• Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. (Articolo in rivista) (Prodotto della ricerca)
• Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. (Articolo in rivista) (Prodotto della ricerca)
• Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Unveiling the degradative route of the V247M alpha-sarcoglycan mutant responsible for LGMD-2D (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Foxl2 is required for commitment to ovary differentiation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• NH2-truncated human tau induces deregulated mitophagy in neurons by aberrant recruitment of Parkin and UCHL-1: implications in Alzheimer's Disease. (Articolo in rivista) (Prodotto della ricerca)
• Expression and molecular characterization of alternative transcripts of the ARHGEF5/TIM oncogene specific for human breast cancer (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide association analysis identifies multiple loci related to resting heart rate. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification of traf6-dependent nemo polyubiquitination sites through analysis of a new nemo mutation causing incontinentia pigmenti (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new genes of the human X chromosome (Articolo in rivista) (Prodotto della ricerca)
• Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. (Articolo in rivista) (Prodotto della ricerca)
• Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour (Articolo in rivista) (Prodotto della ricerca)
• Glutaredoxin 2 prevents aggregation of mutant SOD1 in mitochondria and abolishes its toxicity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. (Articolo in rivista) (Prodotto della ricerca)
• A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 deletion syndrome. (Articolo in rivista) (Prodotto della ricerca)
• The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPdelta and RhoGAP2 (Articolo in rivista) (Prodotto della ricerca)
• XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• New susceptibility locus for hypertension on chromosome 8q by efficient pedigree-breaking in an Italian isolate (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Akt activation prevents the force drop induced by eccentric contractions in dystrophin-deficient skeletal muscle. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• SMC1 involvement in fragile site expression (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes. (Articolo in rivista) (Prodotto della ricerca)
• Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)

Alternative label

• Human molecular genetics. (literal)
• Hum. mol. genet. (literal)

Language

• eng (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#issn

• 0964-6906 (literal)

Preferred label

• Human molecular genetics (literal)

Publisher

• IRL, Oxford : GBR (literal)

Incoming links:

Rivista

• The artificial gene Jazz, a transcriptional regulator of utrophin, corrects the dystrophic pathology in mdx mice. (Articolo in rivista) (Prodotto della ricerca)
• Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNAIle mutation causing hypertrophic cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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 in rivista) (Prodotto della ricerca)
• TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease. (Articolo in rivista) (Prodotto della ricerca)
• Complex Loci in human and mouse genomes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• “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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Folic acid prevents exencephaly in Cited2 deficient mice (Articolo in rivista) (Prodotto della ricerca)
• Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. (Articolo in rivista) (Prodotto della ricerca)
• Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Alterations in the expression, structure and function of Progesterone Receptor Membrane Component-1 (PGRMC1) in premature ovarian failure. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide association analysis identifies multiple loci related with resting heart rate (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Altered pre-lamin A processing is a common mechanism leading to lipodystrophy, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. (Articolo in rivista) (Prodotto della ricerca)
• Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes. (Articolo in rivista) (Prodotto della ricerca)
• Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. (Articolo in rivista) (Prodotto della ricerca)
• 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification of traf6-dependent nemo polyubiquitination sites through analysis of a new nemo mutation causing incontinentia pigmenti (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Expression and molecular characterization of alternative transcripts of the ARHGEF5/TIM oncogene specific for human breast cancer (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour (Articolo in rivista) (Prodotto della ricerca)
• Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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 in rivista) (Prodotto della ricerca)
• Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. (Articolo in rivista) (Prodotto della ricerca)
• 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 in rivista) (Prodotto della ricerca)
• Foxl2 is required for commitment to ovary differentiation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide association analysis identifies multiple loci related to resting heart rate. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Akt activation prevents the force drop induced by eccentric contractions in dystrophin-deficient skeletal muscle. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation (Articolo in rivista) (Prodotto della ricerca)
• New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells. (Articolo in rivista) (Prodotto della ricerca)
• 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• New susceptibility locus for hypertension on chromosome 8q by efficient pedigree-breaking in an Italian isolate (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. (Articolo in rivista) (Prodotto della ricerca)
• Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy. (Articolo in rivista) (Prodotto della ricerca)
• Rescue of endocytosis deficits in the Oligophrenin1 mouse model of X-linked mental retardation by inhibition of the RhoA/ROCK pathway. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPdelta and RhoGAP2 (Articolo in rivista) (Prodotto della ricerca)
• SMC1 involvement in fragile site expression. Human Molecular Genetics (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Glutaredoxin 2 prevents aggregation of mutant SOD1 in mitochondria and abolishes its toxicity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. (Articolo in rivista) (Prodotto della ricerca)
• Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. (Articolo in rivista) (Prodotto della ricerca)
• A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• DNA damage induced by polyglutamine-expanded proteins. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. (Articolo in rivista) (Prodotto della ricerca)
• Mitochondrial redox signalling by p66Shc mediates ALS-like disease through Rac1 inactivation (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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 in rivista) (Prodotto della ricerca)
• Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy (Articolo in rivista) (Prodotto della ricerca)
• Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (Articolo in rivista) (Prodotto della ricerca)
• Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. (Articolo in rivista) (Prodotto della ricerca)
• Tbx1 is a negative modulator of Mef2c (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• SMC1 involvement in fragile site expression (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The artificial gene Jazz, a transcriptional regulator of utrophin, corrects the dystrophic pathology in mdx mice. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• In vivo response to high-resolution variation of Tbx1 mRNA dosage (Articolo in rivista) (Prodotto della ricerca)
• 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• BLOCK-BASED PCR MARKERS TO FIND GENE FAMILY MEMBERS IN HUMAN AND COMPARATIVE GENOME ANALYSIS (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide meta-analysis of common variant differences between men and women. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere (Articolo in rivista) (Prodotto della ricerca)
• Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (Articolo in rivista) (Prodotto della ricerca)
• A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• YAC-ASSISTED CLONING OF TRANSCRIBED SEQUENCES FROM THE HUMAN CHROMOSOME-3P21 REGION (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new genes of the human X chromosome (Articolo in rivista) (Prodotto della ricerca)
• Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects. (Articolo in rivista) (Prodotto della ricerca)
• Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum (Articolo in rivista) (Prodotto della ricerca)
• Ablation of P2X7 receptor exacerbates gliosis and motoneuron death in the SOD1-G93A mouse model of amyotrophic lateral sclerosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 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 in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course. (Articolo in rivista) (Prodotto della ricerca)
• Tbx1 regulates brain vascularization. (Articolo in rivista) (Prodotto della ricerca)
• NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome. (Articolo in rivista) (Prodotto della ricerca)
• A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 deletion syndrome. (Articolo in rivista) (Prodotto della ricerca)
• Salt-inducible kinase 3, SIK3, is a new gene associated with hearing (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity (Articolo in rivista) (Prodotto della ricerca)
• The 3'UTR of FMR1 mRNA is a target of miR101, miR129-5p and miR-221: Implications for the molecular pathology of FXTAS at the synapse. (Articolo in rivista) (Prodotto della ricerca)
• A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions (Articolo in rivista) (Prodotto della ricerca)
• TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome. (Articolo in rivista) (Prodotto della ricerca)
• NH2-truncated human tau induces deregulated mitophagy in neurons by aberrant recruitment of Parkin and UCHL-1: implications in Alzheimer's Disease. (Articolo in rivista) (Prodotto della ricerca)
• NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Unveiling the degradative route of the V247M alpha-sarcoglycan mutant responsible for LGMD-2D (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)