Konstantin Deutsch

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Senior Scientist, Discovery Research

United States

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Recent Grants

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Recapitulating the Human SRNS phenotype in CRISPR/Cas9 Zebrafish Models by Circumventing NMD

Open Date: 2021-07-01

Close Date: 2023-06-01

Articles (10)

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2024

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2024

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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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2021

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2020

Year:

2020

Collaborators (7)

Mohamad Mikati

Duke University

UNITED STATES

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Dieter O. Fürst

Professor, Institute Director

University of Bonn

GERMANY

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Agnieszka Bierzynska

University of Bristol

UNITED KINGDOM

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Tobias Hermle

University of Freiburg

GERMANY

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Soeren Sten Lienkamp

University Medical Center Freiburg

GERMANY

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Kai Schmidt-Ott

Professor

Medizinische Hochschule Hannover

GERMANY

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Kirollos Yousef

Assistant Professor

Children's Hospital of Richmond at Virginia Commonwealth University Children's Pavilion

UNITED STATES

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Konstantin Deutsch

Research Interests

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Contact this professor

Recent Grants

Articles (10)

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.

Collaborators (7)

Mohamad Mikati

Dieter O. Fürst

Agnieszka Bierzynska

Tobias Hermle

Soeren Sten Lienkamp

Kai Schmidt-Ott

Kirollos Yousef

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