View in EDS HTML Full Text PDF Full Text

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

Saved in:
Bibliographic Details
Title: Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
Authors: Bennett, Jasmin J.1 (AUTHOR), Saint-Martin, Cécile2 (AUTHOR), Neumann, Bianca3 (AUTHOR), Männistö, Jonna M. E.1,4 (AUTHOR), Houghton, Jayne A. L.1,5 (AUTHOR), Empting, Susann6 (AUTHOR), Johnson, Matthew B.1 (AUTHOR), Laver, Thomas W.1 (AUTHOR), Locke, Jonathan M.1 (AUTHOR), Spurrier, Benjamin1 (AUTHOR), Wakeling, Matthew N.1 (AUTHOR), Banerjee, Indraneel7 (AUTHOR), Dastamani, Antonia8 (AUTHOR), Demirbilek, Hüseyin9 (AUTHOR), Mitchell, John10 (AUTHOR), Stange, Markus11 (AUTHOR), International Congenital Hyperinsulinism Consortium (AUTHOR), Abi Warde, Marie-Thérèse (AUTHOR), Amrita, Mehta (AUTHOR), Aravena, Romy (AUTHOR)
Source: Genome Medicine. 3/3/2025, Vol. 17 Issue 1, p1-11. 11p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 183406124
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Bennett%2C+Jasmin+J%2E%22">Bennett, Jasmin J.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Saint-Martin%2C+Cécile%22">Saint-Martin, Cécile</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Neumann%2C+Bianca%22">Neumann, Bianca</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Männistö%2C+Jonna+M%2E+E%2E%22">Männistö, Jonna M. E.</searchLink><relatesTo>1,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Houghton%2C+Jayne+A%2E+L%2E%22">Houghton, Jayne A. L.</searchLink><relatesTo>1,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Empting%2C+Susann%22">Empting, Susann</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Johnson%2C+Matthew+B%2E%22">Johnson, Matthew B.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Laver%2C+Thomas+W%2E%22">Laver, Thomas W.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Locke%2C+Jonathan+M%2E%22">Locke, Jonathan M.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Spurrier%2C+Benjamin%22">Spurrier, Benjamin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wakeling%2C+Matthew+N%2E%22">Wakeling, Matthew N.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Banerjee%2C+Indraneel%22">Banerjee, Indraneel</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dastamani%2C+Antonia%22">Dastamani, Antonia</searchLink><relatesTo>8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Demirbilek%2C+Hüseyin%22">Demirbilek, Hüseyin</searchLink><relatesTo>9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mitchell%2C+John%22">Mitchell, John</searchLink><relatesTo>10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Stange%2C+Markus%22">Stange, Markus</searchLink><relatesTo>11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22International+Congenital+Hyperinsulinism+Consortium%22">International Congenital Hyperinsulinism Consortium</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Abi+Warde%2C+Marie-Thérèse%22">Abi Warde, Marie-Thérèse</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Amrita%2C+Mehta%22">Amrita, Mehta</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Aravena%2C+Romy%22">Aravena, Romy</searchLink> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Genome+Medicine%22">Genome Medicine</searchLink>. 3/3/2025, Vol. 17 Issue 1, p1-11. 11p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=183406124
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13073-025-01440-w
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 11
        StartPage: 1
    Titles:
      – TitleFull: Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Bennett, Jasmin J.
      – PersonEntity:
          Name:
            NameFull: Saint-Martin, Cécile
      – PersonEntity:
          Name:
            NameFull: Neumann, Bianca
      – PersonEntity:
          Name:
            NameFull: Männistö, Jonna M. E.
      – PersonEntity:
          Name:
            NameFull: Houghton, Jayne A. L.
      – PersonEntity:
          Name:
            NameFull: Empting, Susann
      – PersonEntity:
          Name:
            NameFull: Johnson, Matthew B.
      – PersonEntity:
          Name:
            NameFull: Laver, Thomas W.
      – PersonEntity:
          Name:
            NameFull: Locke, Jonathan M.
      – PersonEntity:
          Name:
            NameFull: Spurrier, Benjamin
      – PersonEntity:
          Name:
            NameFull: Wakeling, Matthew N.
      – PersonEntity:
          Name:
            NameFull: Banerjee, Indraneel
      – PersonEntity:
          Name:
            NameFull: Dastamani, Antonia
      – PersonEntity:
          Name:
            NameFull: Demirbilek, Hüseyin
      – PersonEntity:
          Name:
            NameFull: Mitchell, John
      – PersonEntity:
          Name:
            NameFull: Stange, Markus
      – PersonEntity:
          Name:
            NameFull: International Congenital Hyperinsulinism Consortium
      – PersonEntity:
          Name:
            NameFull: Abi Warde, Marie-Thérèse
      – PersonEntity:
          Name:
            NameFull: Amrita, Mehta
      – PersonEntity:
          Name:
            NameFull: Aravena, Romy
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 03
              M: 03
              Text: 3/3/2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 1756994X
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Genome Medicine
              Type: main
ResultId 1