1-3 of 3
Jonas Schärer
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing

Christoph Schürch, Thorsten Schaefer, Joëlle S. Müller, Pauline Hanns, Marlon Arnone, Alain Dumlin, Jonas Schärer, Irmgard Sinning, Klemens Wild, Julia Skokowa, Karl Welte, Raphael Carapito, Seiamak Bahram, Martina Konantz, Claudia Lengerke
Journal: Blood
Blood (2021) 137 (10): 1340–1352.
https://doi.org/10.1182/blood.2020008115
Published: 2021
Includes: Supplemental data
Journal Articles

Mutation-Specific Dominant Negative Effects Determine the Phenotype in SRP54 D eficiency

Christoph Schuerch, MSc, Thorsten Schaefer, PhD, Joelle S. Müller, MSc, Pauline Hanns, MSc, Jonas Schärer, BSc, Julia Skokowa, MD PhD, Karl Welte, Raphael Carapito, PhD, Seiamak Bahram, MD, Martina Konantz, PhD, Claudia Lengerke, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 437.
https://doi.org/10.1182/blood-2019-127007
Published: 2019
Journal Articles

Mutation-Specific Dose Reduction in Functional SRP54 Protein Causes Isolated or Syndromic Neutropenia with Shwachman-Diamond-like Features

Martina Konantz, PhD, Christoph Schürch, MSc, Joelle S. Müller, MSc, Jonas Schärer, BSc, Raphael Carapito, PhD, Seiamak Bahram, MD, Claudia Lengerke, MD
Journal: Blood
Blood (2018) 132 (Supplement 1): 1300.
https://doi.org/10.1182/blood-2018-99-118927
Published: 2018