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Záznam pochází z PubMed

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

de Haan, Amber
Autor de Haan, Amber Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
van Eerde, Albertien M
Autor van Eerde, Albertien M Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
Eijgelsheim, Mark
Autor Eijgelsheim, Mark Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
Rump, Patrick
Autor Rump, Patrick Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
van der Zwaag, Bert
Autor van der Zwaag, Bert Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
Hennekam, Eric
Autor Hennekam, Eric Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
Živná, Martina
Autor Živná, Martina Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic
Kmoch, Stanislav
Autor Kmoch, Stanislav Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
Bleyer, Anthony J
Autor Bleyer, Anthony J Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
Kidd, Kendrah
Autor Kidd, Kendrah Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
Vogt, Liffert
Autor Vogt, Liffert Department of Internal Medicine, Section Nephrology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands
Knoers, Nine V A M
Autor Knoers, Nine V A M Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
de Borst, Martin H
Autor de Borst, Martin H Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: m.h.de.borst@umcg.nl

Kidney international. 2023 May ; 103 (5) : 986-989. [epub] 20230322

Kidney Int
ISSN 1523-1755 | 0085-2538
Zdroj

Jazyk angličtina Země Spojené státy americké Médium print-electronic

Typ dokumentu dopisy, práce podpořená grantem

Perzistentní odkaz https://www.medvik.cz/link/pmid37085259

PubMed 37085259
DOI 10.1016/j.kint.2023.02.021
PII: S0085-2538(23)00146-1
Knihovny.cz E-zdroje

Klíčová slova
ADTKD-MUC1, MUC1, autosomal dominant tubulointerstitial kidney disease, chronic kidney disease, massively parallel sequencing,
MeSH
intersticiální nefritida * diagnóza genetika MeSH
lidé MeSH
mucin 1 * genetika MeSH
mutace MeSH
nemoci ledvin genetika MeSH
rodokmen MeSH
vysoce účinné nukleotidové sekvenování MeSH
Check Tag
lidé MeSH
Publikační typ
dopisy MeSH
práce podpořená grantem MeSH
Názvy látek
MUC1 protein, human MeSH Prohlížeč
mucin 1 * MeSH

Department of Genetics University Medical Center Groningen University of Groningen Groningen the Netherlands

Department of Genetics University Medical Center Utrecht Utrecht the Netherlands

Department of Internal Medicine Division of Nephrology University Medical Center Groningen University of Groningen Groningen the Netherlands

Department of Internal Medicine Section Nephrology Amsterdam Cardiovascular Sciences Amsterdam University Medical Center University of Amsterdam Amsterdam the Netherlands

Research Unit of Rare Disease Department of Paediatrics and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University Prague Czech Republic

Research Unit of Rare Disease Department of Paediatrics and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University Prague Czech Republic; Section on Nephrology Wake Forest School of Medicine Winston Salem North Carolina USA

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bioRxiv. 2025 Sep 16 ; () : . [epub] 20250916

ISSN 2692-8205
Zdroj

Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection

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Kidney Int Rep
ISSN 2468-0249
Zdroj

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

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