Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles.

Transfusion - 1 Jul 2014

Westman Julia S, Hellberg Asa, Peyrard Thierry, Thuresson Britt, Olsson Martin L

Abstract excerpt

BACKGROUND: Cells of the clinically important p histo-blood group phenotype lack P1, P(k) , and P glycosphingolipid antigens. All cases investigated so far are due to alterations in the 4-α-galactosyltransferase-encoding Exon 3 of A4GALT. Repetitive elements in the genome can mediate DNA rearrangements, the most abundant being the Alu family of repeats. STUDY DESIGN AND METHODS: The aim of this study was to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Base Sequence
Share to Blood Group Antigens

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Galactosyltransferases

Share to Gene Deletion

Share to Molecular Sequence Data

Share to Regulatory Sequences, Nucleic Acid

Share to Trihexosylceramides

Source

Identifiers

PMID: 24417201
DOI: 10.1111/trf.12543

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles.PMID 24417201Read ↗

Allele-selective RUNX1 binding regulates P1 blood group status by transcriptional control of A4GALT.Semantic proximity Read ↗

Additional molecular bases of the clinically important p blood group phenotype.Semantic proximity Read ↗

Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups.Semantic proximity Read ↗

P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems.Semantic proximity Read ↗

Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual.Semantic proximity Read ↗

[One base deletion of the alpha(1,4) galactosyltransferase gene responsible for p phenotype].Semantic proximity Read ↗

Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype.Semantic proximity Read ↗

Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.Semantic proximity Read ↗

[A rare p phenotype caused by a 26-bp deletion in α 1,4-galactosyltransferase gene].Semantic proximity Read ↗

The P1PK blood group system: revisited and resolved.Semantic proximity Read ↗

Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype.Semantic proximity Read ↗

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying themSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.