Jakub Sikora

assistant professor

Charles University, First Faculty of Medicine

Czech Republic

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Jakub Sikora is an assistant professor at the 1st Faculty of Medicine, Charles University, in the Czech Republic. His research focuses on hereditary amyloidosis, genetic disorders, and the molecular mechanisms underlying various diseases, including Danon disease and neuronal intranuclear inclusion disease. He has contributed to notable publications that address genetic heterogeneity, innovative diagnostic protocols, and clinical subtypes of kidney diseases.

Articles (10)

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2022

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2021

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2021

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2021

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2021

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2021

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2020

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2020

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2020

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2020

Collaborators (9)

Viktor Stranecky

Charles University in Prague

CZECH REPUBLIC

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Lenka Noskova

Charles University

CZECH REPUBLIC

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Jan Zivny

Charles University in Prague

CZECH REPUBLIC

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Jiří Gurka

Charles University

CZECH REPUBLIC

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Martin Meliska

Charles University

CZECH REPUBLIC

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Agnieszka Łaszkiewicz

Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences

POLAND

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Luca Rampoldi

Head of Research Unit

Ospedale San Raffaele

ITALY

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Petr Prikryl

Charles University, First Faculty of Medicine

CZECH REPUBLIC

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Alice Krebsova

Institut klinicke a experimentalni mediciny

CZECH REPUBLIC

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Jakub Sikora

Research Interests

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Articles (10)

A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Pigmentary retinopathy can indicate the presence of pathogenic <i>LAMP2</i> variants even in somatic mosaic carriers with no additional signs of Danon disease

Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patient

Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

NOTCH2NLC CGG repeats are not expanded and skin biopsy was negative in an infantile patient with neuronal intranuclear inclusion disease

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study

<i>Alu</i> ‐mediated <i>Xq24</i> deletion encompassing <i>CUL4B</i> , <i>LAMP2</i> , <i>ATP1B4</i> , <i>TMEM255A</i> , and <i>ZBTB33</i> genes causes Danon disease in a female patient

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Collaborators (9)

Viktor Stranecky

Lenka Noskova

Jan Zivny

Jiří Gurka

Martin Meliska

Agnieszka Łaszkiewicz

Luca Rampoldi

Petr Prikryl

Alice Krebsova

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