Stop-loss - OmicsDI

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1 German Cancer Consortium of Translational Cancer Research (DKTK) and German Cancer Research Center (DKFZ), Heidelberg, Germany 2 IIIrd Medical Department, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany 3 Center for Translational Cancer Research (TranslaTUM), School of Medicine, Technical University of Munich, Munich, Germany (1)
University of Wisconsin-Madison. Biochemistry Dept. Biotechnology Center. (1)
Group Systems Biology of Motor Proteins, Department of NMR-based Structural Biology, Max-Planck-Institute for Biophysical Chemistry, Göttingen, Germany (1)
Full Professor of Paediatric Molecular Haemato-Oncology School of Medicine,University College Dublin, School of Medicine, Systems Biology Ireland Temple Street Dublin 1 (1)
Department Functional Proteomics Medizinisches Proteom-Center Ruhr-University Bochum Building ProDi Gesundheitscampus 4 44780 Bochum Germany (1)
Institute of Innate Immunity, Department of Systems Immunology and Proteomics, Medical Faculty, University of Bonn, Bonn, Germany (1)
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Institute of Physics, Polish Academy of Sciences, Warsaw, Poland (1)
Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, Binghamton University – SUNY, Johnson City, New York 13790, United States (1)
Division of Cancer Research, Department of Thoracic Surgery, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany German Cancer Consortium (DKTK), partner site Freiburg, a partnership between DKFZ and University Medical Center Freiburg, Germany (1)

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Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

Not available

S-EPMC11469940 | biostudies-literature

A predictive framework for stop-loss variants with C-terminal extensions.

Not available

S-EPMC12817085 | biostudies-literature

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

Not available

S-EPMC7940174 | biostudies-literature

Abundant copy-number loss of CYCLOPS and STOP genes in gastric adenocarcinoma.

Not available

S-EPMC4824836 | biostudies-literature

Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss

Not available

S-EPMC8487680 | biostudies-literature

Proctor2011_ProteinHomeostasis_NormalCondition

This model is from the article: Modelling the Role of the Hsp70/Hsp90 System in the Maintenance of Protein Homeostasis Proctor CJ, Lorimer IAJ PLoS ONE2011; 6(7): e22038. doi:10.1371/journal.pone.0022038, Abstract: Neurodegeneration is a...

2024-09-02 | BIOMD0000000344 | BioModels

The Apcmin mouse has altered hematopoietic stem cell function and provides a model for MPD/MDS

Apc, a negative regulator of the canonical Wnt signaling pathway, is a bona-fide tumor suppressor whose loss of function results in intestinal polyposis. APC is located in a commonly deleted region on human chromosome 5q, associated with myelodysplastic syndrome (MDS) suggesting that haploinsufficie...

ORGANISM(S): Mus musculus

2010-02-21 | E-GEOD-20352 | biostudies-arrayexpress

Loss of the spectraplakin gene Short stop induces a DNA damage response in Drosophila epithelia.

Not available

S-EPMC7677407 | biostudies-literature

Is sleep apnea truly associated with hearing loss? A nationwide, population-based study with STOP-BANG questionnaire

Not available

S-EPMC10274574 | biostudies-literature

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

Not available

S-EPMC5606036 | biostudies-literature