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

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.

Clinical genetics - 1 Jan 2016

Brancaleoni V, Balwani M, Granata F, Graziadei G, Missineo P, Fiorentino V, Fustinoni S, Cappellini M D, Naik H, Desnick R J, Di Pierro E

Abstract excerpt

X-linked protoporphyria (XLP), a rare erythropoietic porphyria, results from terminal exon gain-of-function mutations in the ALAS2 gene causing increased ALAS2 activity and markedly increased erythrocyte protoporphyrin levels. Patients present with severe cutaneous photosensitivity and may develo...

Read the complete abstract on PubMed

Topics

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

Share to Erythrocytes
Share to Genes, X-Linked
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Porphyrins

Share to Protoporphyria, Erythropoietic

Share to Protoporphyrins

Share to Receptors, Androgen

Share to X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 25615817
DOI: 10.1111/cge.12562
PMCID: PMC4512933

Genes

ALAS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25615817-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.PMID 25615817Read ↗

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.Semantic proximity Read ↗

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.Semantic proximity Read ↗

X-linked dominant protoporphyria: a new porphyria.Semantic proximity Read ↗

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutationSemantic proximity Read ↗

X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns.Semantic proximity Read ↗

The molecular genetics of erythropoietic protoporphyria.Semantic proximity Read ↗

Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.Semantic proximity Read ↗

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemiaSemantic proximity Read ↗

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females.Semantic proximity Read ↗

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation.Semantic proximity Read ↗

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.Semantic proximity Read ↗

X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypesSemantic proximity Read ↗

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