Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Amber de Haan; Albertien M. van Eerde; Mark Eijgelsheim; Patrick Rump; Bert van der Zwaag; Eric Hennekam; Martina Živná; Stanislav Kmoch; Anthony J. Bleyer; Kendrah Kidd; Liffert Vogt; Nine V. A. M. Knoers; Martin H. de Borst

doi:https://doi.org/10.1016/j.kint.2023.02.021

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Amber de Haan, Albertien M. van Eerde, Mark Eijgelsheim, Patrick Rump, Bert van der Zwaag, Eric Hennekam, Martina Živná, Stanislav Kmoch, Anthony J. Bleyer, Kendrah Kidd, Liffert Vogt, Nine V. A. M. Knoers, Martin H. de Borst

Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)

Original language	English
Pages (from-to)	986-989
Number of pages	4
Journal	Kidney International
Volume	103
Issue number	5
DOIs	https://doi.org/10.1016/j.kint.2023.02.021
Publication status	Published - 1 May 2023

Keywords

ADTKD-MUC1
MUC1
autosomal dominant tubulointerstitial kidney disease
chronic kidney disease
massively parallel sequencing

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https://doi.org/10.1016/j.kint.2023.02.021

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de Haan, A., van Eerde, A. M., Eijgelsheim, M., Rump, P., van der Zwaag, B., Hennekam, E., Živná, M., Kmoch, S., Bleyer, A. J., Kidd, K., Vogt, L., Knoers, N. V. A. M., & de Borst, M. H. (2023). Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family. Kidney International, 103(5), 986-989. https://doi.org/10.1016/j.kint.2023.02.021

@article{a2afa9662e3347bdb57c16d0c0cc8b10,

title = "Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family",

keywords = "ADTKD-MUC1, MUC1, autosomal dominant tubulointerstitial kidney disease, chronic kidney disease, massively parallel sequencing",

author = "{de Haan}, Amber and {van Eerde}, {Albertien M.} and Mark Eijgelsheim and Patrick Rump and {van der Zwaag}, Bert and Eric Hennekam and Martina {\v Z}ivn{\'a} and Stanislav Kmoch and Bleyer, {Anthony J.} and Kendrah Kidd and Liffert Vogt and Knoers, {Nine V. A. M.} and {de Borst}, {Martin H.}",

note = "Funding Information: This work is cofunded by Sanofi Genzyme and the PPP Allowance made available by Health∼Holland, Top Sector Life Sciences and Health, to stimulate public-private partnerships (grants RVO/6320 and IMAGEN/LSHM20009). AMvE was supported by the Dutch Kidney Foundation ( 18OKG19 ). SK, M{\v Z}, KK, and AJB were supported by the Ministry of Health of the Czech Republic (grant NU21-07-00033 ), the Ministry of Education of the Czech Republic (grant LTAUSA19068 ), and institutional programs of Charles University in Prague (UNCE/MED/007). Several authors of this article are members of the European Reference Network for Rare Kidney Diseases project identifier 739532. Funding Information: This work is cofunded by Sanofi Genzyme and the PPP Allowance made available by Health∼Holland, Top Sector Life Sciences and Health, to stimulate public-private partnerships (grants RVO/6320 and IMAGEN/LSHM20009). AMvE was supported by the Dutch Kidney Foundation (18OKG19). SK, M{\v Z}, KK, and AJB were supported by the Ministry of Health of the Czech Republic (grant NU21-07-00033), the Ministry of Education of the Czech Republic (grant LTAUSA19068), and institutional programs of Charles University in Prague (UNCE/MED/007). Several authors of this article are members of the European Reference Network for Rare Kidney Diseases project identifier 739532.",

year = "2023",

month = may,

day = "1",

doi = "https://doi.org/10.1016/j.kint.2023.02.021",

language = "English",

volume = "103",

pages = "986--989",

journal = "Kidney International",

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publisher = "Nature Publishing Group",

number = "5",

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de Haan, A, van Eerde, AM, Eijgelsheim, M, Rump, P, van der Zwaag, B, Hennekam, E, Živná, M, Kmoch, S, Bleyer, AJ, Kidd, K, Vogt, L, Knoers, NVAM & de Borst, MH 2023, 'Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family', Kidney International, vol. 103, no. 5, pp. 986-989. https://doi.org/10.1016/j.kint.2023.02.021

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T1 - Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

AU - de Haan, Amber

AU - van Eerde, Albertien M.

AU - Eijgelsheim, Mark

AU - Rump, Patrick

AU - van der Zwaag, Bert

AU - Hennekam, Eric

AU - Živná, Martina

AU - Kmoch, Stanislav

AU - Bleyer, Anthony J.

AU - Kidd, Kendrah

AU - Vogt, Liffert

AU - Knoers, Nine V. A. M.

AU - de Borst, Martin H.

N1 - Funding Information: This work is cofunded by Sanofi Genzyme and the PPP Allowance made available by Health∼Holland, Top Sector Life Sciences and Health, to stimulate public-private partnerships (grants RVO/6320 and IMAGEN/LSHM20009). AMvE was supported by the Dutch Kidney Foundation ( 18OKG19 ). SK, MŽ, KK, and AJB were supported by the Ministry of Health of the Czech Republic (grant NU21-07-00033 ), the Ministry of Education of the Czech Republic (grant LTAUSA19068 ), and institutional programs of Charles University in Prague (UNCE/MED/007). Several authors of this article are members of the European Reference Network for Rare Kidney Diseases project identifier 739532. Funding Information: This work is cofunded by Sanofi Genzyme and the PPP Allowance made available by Health∼Holland, Top Sector Life Sciences and Health, to stimulate public-private partnerships (grants RVO/6320 and IMAGEN/LSHM20009). AMvE was supported by the Dutch Kidney Foundation (18OKG19). SK, MŽ, KK, and AJB were supported by the Ministry of Health of the Czech Republic (grant NU21-07-00033), the Ministry of Education of the Czech Republic (grant LTAUSA19068), and institutional programs of Charles University in Prague (UNCE/MED/007). Several authors of this article are members of the European Reference Network for Rare Kidney Diseases project identifier 739532.

PY - 2023/5/1

Y1 - 2023/5/1

KW - ADTKD-MUC1

KW - MUC1

KW - autosomal dominant tubulointerstitial kidney disease

KW - chronic kidney disease

KW - massively parallel sequencing

UR - http://www.scopus.com/inward/record.url?scp=85152114710&partnerID=8YFLogxK

U2 - https://doi.org/10.1016/j.kint.2023.02.021

DO - https://doi.org/10.1016/j.kint.2023.02.021

M3 - Article

C2 - 37085259

SN - 0085-2538

VL - 103

SP - 986

EP - 989

JO - Kidney International

JF - Kidney International

IS - 5

ER -

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Keywords

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