A biochemical difference between HAI-2 variants causing syndromic and non-syndromic Congenital Sodium Diarrhea

Maiken Jaller Jensen; Monika Mrackova; Annika Weile Nonboe; Emilie Tina Lembke; Christine Schar; Jan Kristian Jensen; Asli Silahtaroglu; René Villadsen; Lotte Katrine Vogel

doi:10.1371/journal.pone.0358119

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Open Access

Peer-reviewed

Research Article

A biochemical difference between HAI-2 variants causing syndromic and non-syndromic Congenital Sodium Diarrhea

Maiken Jaller Jensen,

Roles Data curation, Formal analysis, Visualization, Writing – original draft

Affiliation Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen N, Denmark

https://orcid.org/0009-0008-3668-4746

⨯
Monika Mrackova,

Roles Data curation

Affiliation Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen N, Denmark

https://orcid.org/0000-0002-0478-2295

⨯
Annika Weile Nonboe,

Roles Data curation

Affiliation Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen N, Denmark
⨯
Emilie Tina Lembke,

Roles Data curation

Affiliation Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen N, Denmark

https://orcid.org/0009-0000-7909-5927

⨯
Christine Schar,

Roles Supervision, Writing – review & editing

Affiliation Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
⨯
Jan Kristian Jensen,

Roles Supervision, Writing – review & editing

Affiliation Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
⨯
Asli Silahtaroglu,

Roles Data curation

Affiliation Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen N, Denmark

https://orcid.org/0000-0001-6181-2705

⨯
René Villadsen,

Roles Data curation, Formal analysis, Visualization

Affiliation Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen N, Denmark
⨯
Lotte Katrine Vogel

Roles Software

* E-mail: vogel@sund.ku.dk

Affiliation Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen N, Denmark

https://orcid.org/0000-0001-9920-0982

⨯

A biochemical difference between HAI-2 variants causing syndromic and non-syndromic Congenital Sodium Diarrhea

Maiken Jaller Jensen,
Monika Mrackova,
Annika Weile Nonboe,
Emilie Tina Lembke,
Christine Schar,
Jan Kristian Jensen,
Asli Silahtaroglu,
René Villadsen,
Lotte Katrine Vogel

Published: September 15, 2026
https://doi.org/10.1371/journal.pone.0358119

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