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

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.

Human mutation - 1 Jan 1998

Fichera M, Romano C, Castiglia L, Failla P, Ruberto C, Amata S, Greco D, Cardoso C, Fontés M, Ragusa A

Abstract excerpt

The molecular causes of ATR-X syndrome reside in mutations involving the XNP/ATR-X gene, which maps in the Xq13.3 region. Mutational analysis of this gene in two unrelated affected patients allowed us to identify two new molecular defects in two distinct regions of the gene. The first is a A-->G splice mutation in the acceptor site of the intron 11 that removes most of the 3' part of the protein, including the...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Thalassemia
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Helicases

Share to Nuclear Proteins

Share to Syndrome

Share to Transcription Factors

Share to X Chromosome

Share to X-linked Nuclear Protein

Source

Identifiers

PMID: 10660327

Genes

ATR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.PMID 10660327Read ↗

ATR-X syndrome: genetics, clinical spectrum, and management.Semantic proximity Read ↗

A novel splicing mutation of the ATRX gene in ATR-X syndrome.Semantic proximity Read ↗

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.Semantic proximity Read ↗

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.Semantic proximity Read ↗

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.Semantic proximity Read ↗

Molecular-clinical spectrum of the ATR-X syndrome.Semantic proximity Read ↗

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.Semantic proximity Read ↗

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.Semantic proximity Read ↗

A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.Semantic proximity Read ↗

[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].Semantic proximity Read ↗

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.Semantic proximity Read ↗

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.Semantic proximity Read ↗

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