Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.K897del1
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DDX11

NM_030653.4:p.K897del1

Associated Papers

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness].

Arroyo-Carrera I et al.

Revista De Neurologia, 2023

Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.

Bottega R et al.

Journal of Cellular Physiology, 2021

Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.

van Schie JJM et al.

Nature Communications, 2020

Warsaw breakage syndrome: Further clinical and genetic delineation.

Alkhunaizi E et al.

American Journal of Medical Genetics. Part A, 2018

The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.

Sun X et al.

Human Molecular Genetics, 2015

Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings.

Bailey C et al.

European Journal of Medical Genetics, 2015

A distinct triplex DNA unwinding activity of ChlR1 helicase.

Guo M et al.

The Journal of Biological Chemistry, 2015

DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity.

Stoepker C et al.

Dna Repair, 2015

The Q Motif Is Involved in DNA Binding but Not ATP Binding in ChlR1 Helicase.

Ding H et al.

Plos One, 2015

Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome.

Bharti SK et al.

Cellular and Molecular Life Sciences : Cmls, 2014

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.

Capo-Chichi JM et al.

Human Mutation, 2013

DNA helicases associated with genetic instability, cancer, and aging.

Suhasini AN et al.

Advances in Experimental Medicine and Biology, 2013

Biochemical characterization of Warsaw breakage syndrome helicase.

Wu Y et al.

The Journal of Biological Chemistry, 2012

Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.

van der Lelij P et al.

American Journal of Human Genetics, 2010

Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome.

van der Lelij P et al.

Anemia, 2010

Disease-causing missense mutations in human DNA helicase disorders.

Suhasini AN et al.

Mutation Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."