An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.

Saved in:
Bibliographic Details
Title: An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.
Authors: Leinhos, Lisa1 (AUTHOR), Robinson, Paul1 (AUTHOR), Poloni, Giulia1 (AUTHOR), Broadway-Stringer, Sophie2 (AUTHOR), Beglov, Julia1 (AUTHOR), Lokman, Adam B.1,3 (AUTHOR), Douglas, Gillian1 (AUTHOR), Nuthay, Sajjad2 (AUTHOR), Fonseka, Oveena1 (AUTHOR), Schmid, Manuel1 (AUTHOR), Singer, Evie2 (AUTHOR), Hooper, Charlotte1 (AUTHOR), Thomson, Kate1 (AUTHOR), Bagnall, Richard D.4,5 (AUTHOR), Ingles, Jodie6 (AUTHOR), Semsarian, Christopher4,5,7 (AUTHOR), Ormondroyd, Elizabeth1,8 (AUTHOR), Toepfer, Christopher N.1 (AUTHOR), Davies, Benjamin9 (AUTHOR), Redwood, Charles1 (AUTHOR)
Source: Scientific Reports. 3/24/2025, Vol. 15 Issue 1, p1-14. 14p.
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: 183970959
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Leinhos%2C+Lisa%22">Leinhos, Lisa</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Robinson%2C+Paul%22">Robinson, Paul</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Poloni%2C+Giulia%22">Poloni, Giulia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Broadway-Stringer%2C+Sophie%22">Broadway-Stringer, Sophie</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Beglov%2C+Julia%22">Beglov, Julia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lokman%2C+Adam+B%2E%22">Lokman, Adam B.</searchLink><relatesTo>1,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Douglas%2C+Gillian%22">Douglas, Gillian</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nuthay%2C+Sajjad%22">Nuthay, Sajjad</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fonseka%2C+Oveena%22">Fonseka, Oveena</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Schmid%2C+Manuel%22">Schmid, Manuel</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Singer%2C+Evie%22">Singer, Evie</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hooper%2C+Charlotte%22">Hooper, Charlotte</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Thomson%2C+Kate%22">Thomson, Kate</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bagnall%2C+Richard+D%2E%22">Bagnall, Richard D.</searchLink><relatesTo>4,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ingles%2C+Jodie%22">Ingles, Jodie</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Semsarian%2C+Christopher%22">Semsarian, Christopher</searchLink><relatesTo>4,5,7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ormondroyd%2C+Elizabeth%22">Ormondroyd, Elizabeth</searchLink><relatesTo>1,8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Toepfer%2C+Christopher+N%2E%22">Toepfer, Christopher N.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Davies%2C+Benjamin%22">Davies, Benjamin</searchLink><relatesTo>9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Redwood%2C+Charles%22">Redwood, Charles</searchLink><relatesTo>1</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Scientific+Reports%22">Scientific Reports</searchLink>. 3/24/2025, Vol. 15 Issue 1, p1-14. 14p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=183970959
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41598-025-94371-w
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 14
        StartPage: 1
    Titles:
      – TitleFull: An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Leinhos, Lisa
      – PersonEntity:
          Name:
            NameFull: Robinson, Paul
      – PersonEntity:
          Name:
            NameFull: Poloni, Giulia
      – PersonEntity:
          Name:
            NameFull: Broadway-Stringer, Sophie
      – PersonEntity:
          Name:
            NameFull: Beglov, Julia
      – PersonEntity:
          Name:
            NameFull: Lokman, Adam B.
      – PersonEntity:
          Name:
            NameFull: Douglas, Gillian
      – PersonEntity:
          Name:
            NameFull: Nuthay, Sajjad
      – PersonEntity:
          Name:
            NameFull: Fonseka, Oveena
      – PersonEntity:
          Name:
            NameFull: Schmid, Manuel
      – PersonEntity:
          Name:
            NameFull: Singer, Evie
      – PersonEntity:
          Name:
            NameFull: Hooper, Charlotte
      – PersonEntity:
          Name:
            NameFull: Thomson, Kate
      – PersonEntity:
          Name:
            NameFull: Bagnall, Richard D.
      – PersonEntity:
          Name:
            NameFull: Ingles, Jodie
      – PersonEntity:
          Name:
            NameFull: Semsarian, Christopher
      – PersonEntity:
          Name:
            NameFull: Ormondroyd, Elizabeth
      – PersonEntity:
          Name:
            NameFull: Toepfer, Christopher N.
      – PersonEntity:
          Name:
            NameFull: Davies, Benjamin
      – PersonEntity:
          Name:
            NameFull: Redwood, Charles
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 24
              M: 03
              Text: 3/24/2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 20452322
          Numbering:
            – Type: volume
              Value: 15
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Scientific Reports
              Type: main
ResultId 1