Clarification of (epi)genetic mechanisms involved in the development of human imprinting disorders View Homepage


Ontology type: schema:MonetaryGrant     


Grant Info

YEARS

2013-2016

FUNDING AMOUNT

46020000 JPY

ABSTRACT

We have attempted to clarify underlying (epi)genetic mechanisms involved in the development of human imprinting disorders. Representative results include: (1) identification of the underlying factors, (epi)genotype-phenotype correlations in Silver-Russell syndrome, and detection of mosaic upd(11)mat, (2) identification of epimutations and clarification of (epi)genetic mechanisms and clinical features in Temple syndrome, and (3) determination of detailed clinical features, establishment of clinical diagnostic guideline and molecular diagnostic approach in Kagami-Ogata syndrome. Furthermore, we identified that the boundary of the epimutations in Temple syndrome patients, Kagami-Ogata syndrome patients, and control subjects are virtually identical. This implies that epimutations take place at the region flanked by insulators. We also established iPS cell from Kagami-Ogata syndrome patients. More... »

URL

https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-25253023

Related SciGraph Publications

  • 2017-12. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients in GENETICS IN MEDICINE
  • 2017-04. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome in GENETICS IN MEDICINE
  • 2016-08. Beckwith–Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon? in JOURNAL OF HUMAN GENETICS
  • 2016-07. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis in JOURNAL OF HUMAN GENETICS
  • 2016-04. Growth references for Japanese individuals with Noonan syndrome in PEDIATRIC RESEARCH
  • 2016-02. Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region in JOURNAL OF HUMAN GENETICS
  • 2016-02. Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations in HUMAN GENETICS
  • 2015-12. Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions in CLINICAL EPIGENETICS
  • 2015-12. Parturition failure in mice lacking Mamld1 in SCIENTIFIC REPORTS
  • 2015-12. Development of waist circumference percentiles for Japanese children and an examination of their screening utility for childhood metabolic syndrome: a population-based cross-sectional study in BMC PUBLIC HEALTH
  • 2015-10. Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-09. Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature in JOURNAL OF HUMAN GENETICS
  • 2015-08. Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-06. Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation in ENDOCRINE
  • 2015-03. Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification in JOURNAL OF HUMAN GENETICS
  • 2015-02. Silver–Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C in JOURNAL OF HUMAN GENETICS
  • 2014-12. Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith–Wiedemann syndrome with epimutations in GENETICS IN MEDICINE
  • 2014-12. Rationale and study design of the Japan environment and children’s study (JECS) in BMC PUBLIC HEALTH
  • 2014-12. Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-10. Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements in JOURNAL OF HUMAN GENETICS
  • 2014-08. Early vitamin K deficiency bleeding in a neonate associated with maternal Crohn’s disease in JOURNAL OF PERINATOLOGY
  • 2014-06. Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities in JOURNAL OF HUMAN GENETICS
  • 2014-05. Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer in BREAST CANCER
  • 2013-03. Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader–Willi syndrome due to an advanced maternal childbearing age in Korea in JOURNAL OF HUMAN GENETICS
  • JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/2206", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "type": "DefinedTerm"
          }
        ], 
        "amount": {
          "currency": "JPY", 
          "type": "MonetaryAmount", 
          "value": "46020000"
        }, 
        "description": "We have attempted to clarify underlying (epi)genetic mechanisms involved in the development of human imprinting disorders. Representative results include: (1) identification of the underlying factors,  (epi)genotype-phenotype correlations in Silver-Russell syndrome, and detection of mosaic upd(11)mat, (2) identification of epimutations and clarification of (epi)genetic mechanisms and clinical features in Temple syndrome, and (3) determination of detailed clinical features, establishment of clinical diagnostic guideline and molecular diagnostic approach in Kagami-Ogata syndrome. Furthermore, we identified that the boundary of the epimutations in Temple syndrome patients, Kagami-Ogata syndrome patients, and control subjects are virtually identical. This implies that epimutations take place at the region flanked by insulators. We also established iPS cell from Kagami-Ogata syndrome patients.", 
        "endDate": "2016-03-31T00:00:00Z", 
        "funder": {
          "id": "https://www.grid.ac/institutes/grid.54432.34", 
          "type": "Organization"
        }, 
        "id": "sg:grant.6112370", 
        "identifier": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "6112370"
            ]
          }, 
          {
            "name": "kaken_id", 
            "type": "PropertyValue", 
            "value": [
              "25253023"
            ]
          }
        ], 
        "inLanguage": [
          "en"
        ], 
        "keywords": [
          "Temple syndrome", 
          "epimutations", 
          "molecular diagnostic approaches", 
          "underlying factors", 
          "cells", 
          "establishment", 
          "Kagami-Ogata syndrome", 
          "Kagami-Ogata syndrome patients", 
          "detection", 
          "human imprinting disorders", 
          "determination", 
          "region", 
          "clarification", 
          "Temple syndrome patients", 
          "clinical features", 
          "detailed clinical features", 
          "representative results", 
          "control subjects", 
          "Silver-Russell syndrome", 
          "epi)genotype-phenotype correlations", 
          "insulator", 
          "place", 
          "mosaic upd(11)mat", 
          "epi)genetic mechanisms", 
          "boundary", 
          "development", 
          "clinical diagnostic guidelines", 
          "identification"
        ], 
        "name": "Clarification of (epi)genetic mechanisms involved in the development of human imprinting disorders", 
        "recipient": [
          {
            "id": "https://www.grid.ac/institutes/grid.411951.9", 
            "type": "Organization"
          }
        ], 
        "sameAs": [
          "https://app.dimensions.ai/details/grant/grant.6112370"
        ], 
        "sdDataset": "grants", 
        "sdDatePublished": "2019-03-07T11:48", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com.uberresearch.data.processor/core_data/20181219_192338/projects/base/kaken_projects_30.xml.gz", 
        "startDate": "2013-04-01T00:00:00Z", 
        "type": "MonetaryGrant", 
        "url": "https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-25253023"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/grant.6112370'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/grant.6112370'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/grant.6112370'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/grant.6112370'


     

    This table displays all metadata directly associated to this object as RDF triples.

    62 TRIPLES      19 PREDICATES      48 URIs      41 LITERALS      4 BLANK NODES

    Subject Predicate Object
    1 sg:grant.6112370 schema:about anzsrc-for:2206
    2 schema:amount Nef198b74732747fc8b7d437681bad756
    3 schema:description We have attempted to clarify underlying (epi)genetic mechanisms involved in the development of human imprinting disorders. Representative results include: (1) identification of the underlying factors, (epi)genotype-phenotype correlations in Silver-Russell syndrome, and detection of mosaic upd(11)mat, (2) identification of epimutations and clarification of (epi)genetic mechanisms and clinical features in Temple syndrome, and (3) determination of detailed clinical features, establishment of clinical diagnostic guideline and molecular diagnostic approach in Kagami-Ogata syndrome. Furthermore, we identified that the boundary of the epimutations in Temple syndrome patients, Kagami-Ogata syndrome patients, and control subjects are virtually identical. This implies that epimutations take place at the region flanked by insulators. We also established iPS cell from Kagami-Ogata syndrome patients.
    4 schema:endDate 2016-03-31T00:00:00Z
    5 schema:funder https://www.grid.ac/institutes/grid.54432.34
    6 schema:identifier Na93c929757094ceb8575d13c8e064ab9
    7 Nfb1517feb47b4d0b846723365d37d631
    8 schema:inLanguage en
    9 schema:keywords Kagami-Ogata syndrome
    10 Kagami-Ogata syndrome patients
    11 Silver-Russell syndrome
    12 Temple syndrome
    13 Temple syndrome patients
    14 boundary
    15 cells
    16 clarification
    17 clinical diagnostic guidelines
    18 clinical features
    19 control subjects
    20 detailed clinical features
    21 detection
    22 determination
    23 development
    24 epi)genetic mechanisms
    25 epi)genotype-phenotype correlations
    26 epimutations
    27 establishment
    28 human imprinting disorders
    29 identification
    30 insulator
    31 molecular diagnostic approaches
    32 mosaic upd(11)mat
    33 place
    34 region
    35 representative results
    36 underlying factors
    37 schema:name Clarification of (epi)genetic mechanisms involved in the development of human imprinting disorders
    38 schema:recipient https://www.grid.ac/institutes/grid.411951.9
    39 schema:sameAs https://app.dimensions.ai/details/grant/grant.6112370
    40 schema:sdDatePublished 2019-03-07T11:48
    41 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    42 schema:sdPublisher Nd4e527d8ec12437b87d589ac838914ad
    43 schema:startDate 2013-04-01T00:00:00Z
    44 schema:url https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-25253023
    45 sgo:license sg:explorer/license/
    46 sgo:sdDataset grants
    47 rdf:type schema:MonetaryGrant
    48 Na93c929757094ceb8575d13c8e064ab9 schema:name kaken_id
    49 schema:value 25253023
    50 rdf:type schema:PropertyValue
    51 Nd4e527d8ec12437b87d589ac838914ad schema:name Springer Nature - SN SciGraph project
    52 rdf:type schema:Organization
    53 Nef198b74732747fc8b7d437681bad756 schema:currency JPY
    54 schema:value 46020000
    55 rdf:type schema:MonetaryAmount
    56 Nfb1517feb47b4d0b846723365d37d631 schema:name dimensions_id
    57 schema:value 6112370
    58 rdf:type schema:PropertyValue
    59 anzsrc-for:2206 schema:inDefinedTermSet anzsrc-for:
    60 rdf:type schema:DefinedTerm
    61 https://www.grid.ac/institutes/grid.411951.9 schema:Organization
    62 https://www.grid.ac/institutes/grid.54432.34 schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...