• Premature Ovarian Failure
    • Silvia Bione
    • Silvia Bione: Influence Statistics

      Silvia Bione

      Silvia Bione

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      Computational Biology Unit, Institute of Molecular Genetics Luigi Luca Cavalli-Sforza, National Research Council, Pavia, Italy | Institute of Molecular Genetics IGM-CNR “Luigi ...

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      Silvia Bione:Expert Impact

      Concepts for whichSilvia Bionehas direct influence:Premature ovarian failure,Cpg islands,Bmp15 mutations,Critical region,Human homologue,Transcriptional map,Italian population,Human chromosome.

      Silvia Bione:KOL impact

      Concepts related to the work of other authors for whichfor which Silvia Bione has influence:Barth syndrome,Nuclear envelope,Premature ovarian failure,Muscular dystrophy,Dilated cardiomyopathy,Skeletal muscle,Fmr1 gene.

      KOL Resume for Silvia Bione


      Computational Biology Unit, Institute of Molecular Genetics Luigi Luca Cavalli-Sforza, National Research Council, Pavia, Italy


      Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza", Via Abbiategrasso 207, 27100, Pavia, Italy.

      Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, 27100 Pavia, Italy


      National Research Council Institute of Molecular Genetics Pavia Italy


      Institute of Molecular Genetics, National Research Council, 27100 Pavia, Italy


      Istituto di Genetica Molecolare, CNR, Pavia, Italy, .


      Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy


      Institute of Molecular Genetics-CNR, Pavia, Italy


      DIBIT-San Raffaele Scientific Institute


      Department of Molecular Biology and Functional Genomics, San Raffaele Scientific Institute, Milan, Italy


      DIBIT, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milano, Italy


      Institute of Genetics, Biochemistry and Evolution, CNR, Via Abbiategrasso 207, 27100 Pavia, Italy


      Institute of Genetics, Biochemistry, and Evolution, Consiglio Nazionale delle Ricerche, Pavia, Italy


      Institute of Genetics, Biochemistry, and Evolution, Consiglio Nationale delle Ricerche, Italy


      Institute of Genetics, Biochemistry and Evolution, CNR, Pavia


      Institute of Genetics Biochemistry and Evolution, Consiglio Nazionale delle Ricerche, Pavia, Italy.


      Istituto di Genetica Biochimica ed Evoluzionistica, CNR, Pavia, Italy; and Institute of Medical Genetics, Baylor College of Medicine, Houston, Texas


      Istituto di Genetica Biochimica ed Evoluzionistica CNR, Via Abbiategrasso 207, 27100, Pavia, Italy

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      Sample of concepts for which Silvia Bione is among the top experts in the world.
      Concept World rank
      discover lncrnas #1
      perspective powerness #1
      characterization lncrnas signature #1
      comprehension lncrnas biology #1
      wellknown standard arm #2
      dominant emd #2
      xemd gene #2
      epithelia mammalian epithelia #2
      pof fluorescence menopause #2
      skin proteins process #2
      human chromosome women #2
      temporal expression pof1b #2
      fluorescence menopause pof #2
      autosomaldominant emd #2
      entrance toxic molecules #2
      correlagenes new tool #2
      mild muscle disorder #2
      xemd gene emerin #2
      simulation correlagenes #2
      data external layers #2
      formation epb #2
      susceptibility gene pof #2
      gene granular layer #2
      mutation xlinked emery #2
      female humans x‐chromosome #2
      mutation xemd gene #2
      extent deletions comparison #2
      2109 pairwise comparisons #2
      fluorescence menopause #2
      epb northern embryo #2
      epb escape #2
      mutations xemd gene #2
      correlagenes new #2
      x‐chromosome italian #2
      pof1b gene #2
      analysis emerin #2
      correlagenes #2
      gene epithelia #2
      correlagenes tool #2
      tertiary thymopoietins #3
      pof maps #3
      pof disorder #3
      mutation emerin gene #3
      microfilament proteins proteins #3
      controls rare allele #3
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      Prominent publications by Silvia Bione

      KOL-Index: 9886

      Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, progressive weakness in humeroperoneal muscles, and cardiomyopathy with conduction block. The disease was described for the first time as an X-linked muscular dystrophy, but autosomal dominant and autosomal recessive forms were reported. The genes for X-linked EMD and autosomal dominant EMD (AD-EMD) were identified. We report here that heterozygote mutations in LMNA, ...

      Known for Lmna Gene | Autosomal Dominant | Dreifuss Muscular | Recessive Emery | Progressive Weakness
      KOL-Index: 9272

      Premature ovarian failure (POF) is a defect of ovarian development and is characterized by primary or secondary amenorrhea, with elevated levels of serum gonadotropins, or by early menopause. The disorder has been attributed to various causes, including rearrangements of a large "critical region" in the long arm of the X chromosome. Here we report identification, in a family with POF, of a gene that is disrupted by a breakpoint. The gene is the human homologue of the Drosophila ...

      Known for Premature Ovarian Failure | Drosophila Melanogaster | Female Formins | Diaphanous Gene | Ovarian Development
      KOL-Index: 8544

      Premature ovarian failure (POF) is characterized by hypergonadotropic hypogonadism and amenorrhea before the age of 40. The condition has a heterogeneous background but genetic factors are demonstrated by the occurrence of familial cases. We identified a mother and daughter with POF both of whom carry an X;autosome translocation [t(X;11)(q24;q13)]. RNA expression studies of genes flanking the X-chromosome breakpoint revealed that both patients have reduced expression levels of the gene ...

      Known for Premature Ovarian Failure | Cytochrome P450 | Pgrmc1 Pof | Progesterone Receptor | Ovarian Cells
      KOL-Index: 8512

      BACKGROUND: Balanced X;autosome translocations interrupting the 'critical region' of the long arm of the human X chromosome are often associated with premature ovarian failure (POF). However, the mechanisms leading to X-linked ovarian dysfunction are largely unknown, as the majority of the X chromosome breakpoints have been mapped to gene-free genomic regions. A few genes have been found to be interrupted, but their role has never been clarified.

      METHODS AND RESULTS: By fine mapping of ...

      Known for Premature Ovarian Failure | Candidate Genes | Dosage Compensation | Critical Region | Long Arm
      KOL-Index: 8166

      BACKGROUND: Studies attempting to precisely define the range of fragile mental retardation 1 (FMR1) expansions and its inf luence in premature ovarian failure (POF) manifestation are partially lacking. To this aim, we evaluated a large cohort of POF patients for the size and, in selected cases, for the sequence of the CGG expansion. Furthermore, the correlation between POF and X-inactivation was investigated in FRAXA families.

      METHODS: By fluorescent PCR, 190 POF and 200 control women ...

      Known for Fmr1 Cgg | Ovarian Failure | Mutational Analysis | Intermediate Alleles | Pof Patients
      KOL-Index: 8099

      Bone morphogenetic protein-15 (BMP15) is selectively synthesized by oocytes as a pre-proprotein and is considered an ovarian follicle organizer whose adequate function is critical for female fertility. Missense mutations were reported in primary ovarian insufficiency (POI) but their biological impact remained unexplored. Here, screening of 300 unrelated idiopathic overt POI women with primary or secondary amenorrhea (SA) led to the identification of six heterozygous BMP15 variations in ...

      Known for Bmp15 Mutations | Primary Ovarian Insufficiency | Female Fertility | Bioactive Dimers | Bone Morphogenetic
      KOL-Index: 7901

      Thirty-two probes for CpG islands of the distal long arm of the human X chromosome have been identified. From a genomic library of DNA of the hamster-human cell hybrid X3000.1 digested with the rare cutter restriction enzyme EagI, 53 different human clones have been isolated and characterized by methylation and sequence analysis. The characteristic pattern of DNA methylation of CpG islands at the 5' end of genes of the X chromosome has been used to distinguish between EagI sites in CpG ...

      Known for Cpg Islands | Sequence Analysis | Eagi Sites | Dna Methylation | Genes Chromosome
      KOL-Index: 7860

      In hunting for unknown genes on the human X chromosome, we identified a cDNA in Xq28 encoding a transmembrane protein (SEX) of 1871 amino acids. SEX shares significant homology with the extracellular domain of the receptors encoded by the oncogenes MET, RON, and SEA [hepatocyte growth factor (HGF) receptor family]. Further screenings of cDNA libraries identified three additional sequences closely related to SEX: these were named SEP, OCT, and NOV and were located on human chromosomes 3p, ...

      Known for Transmembrane Proteins | Cell Surface Receptors | Sequence Homology | Hepatocyte Growth | Receptor Protein
      KOL-Index: 7699

      BACKGROUND: Chromosomal rearrangements in Xq are frequently associated with premature ovarian failure (POF) and have defined a POF 'critical region'. Search for genes responsible for the disorder has been elusive.

      METHODS: We report mapping of novel breakpoints of X;autosome-balanced translocations and interstitial deletions and a review of published X chromosome rearrangements.

      RESULTS: All the novel POF-associated rearrangements were mapped outside and often very distant from genes. ...

      Known for Chromosomal Rearrangements | Ovarian Failure | Critical Region | Flanking Genes | Pof Phenotype
      KOL-Index: 7633

      Barth syndrome (BTHS) is an X-linked disorder characterized clinically by the associated features of cardiac and skeletal myopathy, short stature, and neutropenia. The clinical manifestations of the disease are, in general, quite variable, but cardiac failure as a consequence of cardiac dilatation and hypertrophy is a constant finding and is the most common cause of death in the first months of life. X-linked cardiomyopathies with clinical manifestations similar to BTHS have been ...

      Known for G45 Gene | Clinical Manifestations | Bths Linked | Cardiac Failure | Sequence Analysis
      KOL-Index: 7265

      Chromosomal rearrangements in Xq are frequently associated to premature ovarian failure (POF) and have contributed to define a POF “critical region” from Xq13.3 to Xq26. Search for X-linked genes responsible for the phenotype has been elusive as most rearrangements did not interrupt genes and many were mapped to gene deserts. We now report that ovary-expressed genes flanked autosomal breakpoints in four POF cases analyzed whose X chromosome breakpoints interrupted a gene poor region in ...

      Known for Premature Ovarian Failure | Critical Region | Autosomal Genes | Chromosome Breakpoints | Pof Cases
      KOL-Index: 7000

      An increasingly large number of proteins involved in signal transduction have been identified in recent years and shown to control different steps of cell survival, proliferation, and differentiation. Among the genes recently identified at the tip of the long arm of the human X chromosome, a novel gene, C1, encodes a protein that appears to represent a newly discovered member of the group of signaling proteins involved in regulation of the small GTP binding proteins of the ras ...

      Known for Hematopoietic Cells | Sequence Homology | Proteins Ras | Gtpase Activating | Chromosome Gene
      KOL-Index: 6460

      Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight transcripts expressed at high levels in skeletal muscle, heart and/or brain as the best candidates for the disease. We now report, in all five patients studied, unique mutations ...

      Known for Messenger Sequence Homology | Membrane Proteins | Muscular Dystrophy | Linked Gene | Amino Acid
      KOL-Index: 5930

      Primary ovarian insufficiency (POI) is a critical fertility defect characterized by an anticipated and silent impairment of the follicular reserve, but its pathogenesis is largely unexplained. The frequent maternal inheritance of POI together with a remarkable dependence of ovarian folliculogenesis upon mitochondrial biogenesis and bioenergetics suggested the possible involvement of a generalized mitochondrial defect. Here, we verified the existence of a significant correlation between ...

      Known for Mitochondrial Dna | Ovarian Aging | Blood Cells | Insufficiency Poi | Gene Dosage

      Key People For Premature Ovarian Failure

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      Computational Biology Unit, Institute of Molecular Genetics Luigi Luca Cavalli-Sforza, National Research Council, Pavia, Italy | Institute of Molecular Genetics IGM-CNR “Luigi Luca Cavalli-Sforza”, via Abbiategrasso 207, 27100 Pavia, Italy;, elisa.me

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