Exposure of phosphatidylserine on the cell surface

S Nagata, J Suzuki, K Segawa, T Fujii - Cell Death & Differentiation, 2016 - nature.com
Phosphatidylserine (PtdSer) is a phospholipid that is abundant in eukaryotic plasma
membranes. An ATP-dependent enzyme called flippase normally keeps PtdSer inside the …

Hereditary muscular dystrophies and the heart

MCE Hermans, YM Pinto, ISJ Merkies… - Neuromuscular …, 2010 - Elsevier
Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly
of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial …

Erythrogene: a database for in-depth analysis of the extensive variation in 36 blood group systems in the 1000 Genomes Project

M Möller, M Jöud, JR Storry, ML Olsson - Blood Advances, 2016 - ashpublications.org
Blood group genotyping has recently developed into a clinical tool to improve compatibility
of blood transfusions and management of pregnancies. Next-generation sequencing (NGS) …

Red blood cell blood group antigens: structure and function

ME Reid, N Mohandas - Seminars in hematology, 2004 - Elsevier
Red blood cell (RBC) blood group antigens are polymorphic, inherited, carbohydrate or
protein structures located on the extracellular surface of the RBC membrane. They …

Eryptosis, a window to systemic disease

F Lang, E Gulbins, H Lerche, SM Huber… - Cellular Physiology and …, 2008 - karger.com
Similar to apoptosis of nucleated cells, suicidal erythrocyte death or eryptosis is
characterized by cell shrinkage, membrane blebbing and membrane phospholipid …

Neuroacanthocytosis syndromes

HH Jung, A Danek, RH Walker - Orphanet journal of rare diseases, 2011 - Springer
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases
characterized by the association of red blood cell acanthocytosis and progressive …

Clinical features and molecular bases of neuroacanthocytosis

L Rampoldi, A Danek, AP Monaco - Journal of molecular medicine, 2002 - Springer
The term acanthocytosis is derived from the Greek for" thorn" and is used to describe a
peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at …

Blood groups: the past 50 years

G Daniels, ME Reid - Transfusion, 2010 - Wiley Online Library
Since the first issue of TRANSFUSION in 1961, there has been a tremendous expansion in
not only the number of blood group antigens identified but also in our knowledge of their …

Chorein detection for the diagnosis of chorea‐acanthocytosis

C Dobson‐Stone, A Velayos‐Baeza… - Annals of Neurology …, 2004 - Wiley Online Library
Chorea‐acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical
features with Huntington's disease and McLeod syndrome. It is caused by mutations in …

[HTML][HTML] Transforming growth factor-β pathway activity in glioblastoma

K Frei, D Gramatzki, I Tritschler, JJ Schroeder… - Oncotarget, 2015 - ncbi.nlm.nih.gov
Transforming growth factor (TGF)-β is a central molecule maintaining the malignant
phenotype of glioblastoma. Anti-TGF-β strategies are currently being explored in early …