[PDF][PDF] Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects

…, IM Höben, J Große-Onnebrink, A Matter… - The American Journal of …, 2017 - cell.com
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized
by chronic airway disease, infertility, and left-right body axis disturbance. Here we report …

Increasing the number of diagnostic mutations in malignant hyperthermia

S Levano, M Vukcevic, M Singer, A Matter… - Human …, 2009 - Wiley Online Library
Malignant hyperthermia (MH) is an autosomal dominant disorder characterized by abnormal
calcium homeostasis in skeletal muscle in response to triggering agents. Today, genetic …

[HTML][HTML] Loss of Histone H3 Methylation at Lysine 4 Triggers Apoptosis in Saccharomyces cerevisiae

D Walter, A Matter, B Fahrenkrog - PLoS genetics, 2014 - journals.plos.org
Monoubiquitination of histone H2B lysine 123 regulates methylation of histone H3 lysine 4 (H3K4)
and 79 (H3K79) and the lack of H2B ubiquitination in Saccharomyces cerevisiae …

Bre1p-mediated histone H2B ubiquitylation regulates apoptosis in Saccharomyces cerevisiae

D Walter, A Matter, B Fahrenkrog - Journal of cell science, 2010 - journals.biologists.com
BRE1 encodes an E3 ubiquitin protein ligase that is required for the ubiquitylation of histone
H2B at lysine 123 (K123). Ubiquitylation of this histone residue is involved in a variety of …

Container closure integrity testing of prefilled syringes

SS Peláez, HC Mahler, A Matter, A Koulov… - Journal of …, 2018 - Elsevier
Prefilled syringes (PFSs) are increasingly preferred over vials as container closure systems (CCSs)
for injectable drug products when facilitated or self-administration is required. …

Phase-appropriate application of analytical methods to monitor subvisible particles across the biotherapeutic drug product life cycle

R Mathaes, L Narhi, A Hawe, A Matter… - The AAPS journal, 2020 - Springer
The phase-appropriate application of analytical methods to characterize, monitor, and control
particles is an important aspect of the development of safe and efficacious biotherapeutics. …

Comparing physical container closure integrity test methods and artificial leak methodologies

…, T Wertli, M Kahl, A Koulov, A Matter… - PDA journal of …, 2019 - journal.pda.org
The sterility of drug products intended for parenteral administration is a critical quality attribute
(CQA) because it serves to ensure patient safety and is thus a key requirement by health …

Variance between different light obscuration and flow imaging microscopy instruments and the impact of instrument calibration

A Matter, A Koulov, S Singh, HC Mahler… - Journal of …, 2019 - Elsevier
Subvisible particles (SVPs) are an obligatory critical quality attribute of the product, and yet,
they are found in all biopharmaceutical products intended for infusion or injection. Light …

Evaluation of different quality-relevant aspects of closed system transfer devices (CSTDs)

A Besheer, HC Mahler, A Matter-Schwald… - Pharmaceutical …, 2020 - Springer
Purpose Health care professionals can be exposed to hazardous drugs such as cytostatics
during preparation of drugs for administration. Closed sytem transfer devices (CSTDs) were …

An interlaboratory comparison on the characterization of a sub-micrometer polydisperse particle dispersion

…, V Kestens, H Khasa, YJ Kim, A Koulov, A Matter… - Journal of …, 2022 - Elsevier
The measurement of polydisperse protein aggregates and particles in biotherapeutics
remains a challenge, especially for particles with diameters of ≈ 1 µm and below (sub-micrometer…