Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
about
The Kell protein of the common K2 phenotype is a catalytically active metalloprotease, whereas the rare Kell K1 antigen is inactive. Identification of novel substrates for the Kell proteinA gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP ConsortiumPurification and partial characterization of the erythrocyte Kx protein deficient in McLeod patientsChorea-acanthocytosis: genetic linkage to chromosome 9q21Y chromosome azoospermia factor region microdeletions and transmission characteristics in azoospermic and severe oligozoospermic patientsManagement of Neuroacanthocytosis SyndromesThe first case report of McLeod syndrome in a Chinese patientMcLeod neuroacanthocytosis: genotype and phenotypeKell and XK immunohistochemistry in McLeod myopathyMcLeod phenotype without the McLeod syndromeAlterations of red cell membrane properties in neuroacanthocytosisGiant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndromeAblation of the Kell/Xk complex alters erythrocyte divalent cation homeostasisAssociation of XK and Kell blood group proteinsKell expression on myeloid progenitor cells.Sex Chromosome Genetics '99. Male infertility and the Y chromosomeNeuroacanthocytosis syndromes.Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.Caspase-mediated activation of Caenorhabditis elegans CED-8 promotes apoptosis and phosphatidylserine externalizationExposure of phosphatidylserine by Xk-related protein family members during apoptosis.McLeod syndrome: a neurohaematological disorder.State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy.Genetic basis of blood group diversity.A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Two McLeod patients with novel mutations in XK.Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindredThe value of DNA analysis for antigens of the Kell and Kx blood group systems.Molecular basis of two novel and related high-prevalence antigens in the Kell blood group system, KUCI and KANT, and their serologic and spatial association with K11 and KETIAn Ultra-rare Disease? Where Do We Go from Here?Spontaneously arising red cells with a McLeod-like phenotype in normal donors.Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility?Endothelin-3-converting enzyme activity of the KEL1 and KEL6 phenotypes of the Kell blood group system.Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Expression profiles of mouse Kell, XK, and XPLAC mRNA.A molecular-properties-based approach to understanding PDZ domain proteins and PDZ ligands.Blood group antigens defined by the amino acid sequences of red cell surface proteins.
P2860
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P2860
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
description
1994 nî lūn-bûn
@nan
1994 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@ast
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@en
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@en-gb
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@nl
type
label
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@ast
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@en
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@en-gb
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@nl
prefLabel
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@ast
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@en
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@en-gb
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@nl
P2093
P1433
P1476
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
@en
P2093
P304
P356
10.1016/0092-8674(94)90136-8
P407
P577
1994-06-17T00:00:00Z