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 …

The Kell blood group system: Kell and XK membrane proteins

S Lee, D Russo, CM Redman - Seminars in hematology, 2000 - Elsevier
Two membrane proteins express the antigens that comprise the Kell blood group system. A
single antigen, Kx, is carried on XK, a 440-amino acid protein that spans the membrane 10 …

McLeod neuroacanthocytosis: genotype and phenotype

A Danek, JP Rubio, L Rampoldi, M Ho… - Annals of …, 2001 - Wiley Online Library
McLeod syndrome is caused by mutations of XK, an X‐chromosomal gene of unknown
function. Originally defined as a peculiar Kell blood group variant, the disease affects …

The ced-8 gene controls the timing of programmed cell deaths in C. elegans

GM Stanfield, HR Horvitz - Molecular cell, 2000 - cell.com
Loss-of-function mutations in the gene ced-8 lead to the late appearance of cell corpses
during embryonic development in C. elegans. ced-8 functions downstream of or in parallel to …

Insights into the structure and function of membrane polypeptides carrying blood group antigens

JP Cartron, P Bailly, CL Van Kim… - Vox …, 1998 - Wiley Online Library
In recent years, advances in biochemistry and molecular genetics have contributed to
establishing the structure of the genes and proteins from most of the 23 blood group systems …

Molecular basis of Kell blood group phenotypes

S Lee - Vox Sanguinis, 1997 - karger.com
The molecular basis of different Kell blood group phenotypes is reviewed. Sequence
analysis of the Kell gene (KEL) established that single base substitutions, resulting in amino …

Functional aspects of red cell antigens

G Daniels - Blood reviews, 1999 - Elsevier
Over 250 blood group determinants are known and most of these are located on integral red
cell proteins and glycoproteins. The functions of some of these structures are known: Diego …

The Oka blood group antigen is a marker for the M6 leukocyte activation antigen, the human homolog of OX‐47 antigen, basigin and neurothelin, an immunoglobulin …

FA Spring, CH Holmes, KL Simpson… - European journal of …, 1997 - Wiley Online Library
The high‐frequency blood group antigen Oka is carried on a red cell membrane
glycoprotein (gp) of 35–69 kDa that is widely distributed on malignant cells of different …

McLeod syndrome: a neurohaematological disorder

HH Jung, A Danek, BM Frey - Vox sanguinis, 2007 - Wiley Online Library
The X‐linked McLeod syndrome is defined by absent Kx red blood cell antigen and weak
expression of Kell antigens, and this constellation may be accidentally detected in routine …

McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement

HH Jung, M Hergersberg, M Vogt, J Pahnke… - …, 2003 - Wiley Online Library
BACKGROUND: The X‐linked McLeod neuroacanthocytosis syndrome is a multisystem
disorder with hematologic, neuromuscular, and central nervous system (CNS) …