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

Mutations in the hairless gene underlie APL in three families of Pakistani origin.

Journal of dermatological science - 1 Apr 2008

Kraemer Liv, Wajid Muhammad, Shimomura Yutaka, Christiano Angela M

Abstract excerpt

BACKGROUND: Atrichia with papular lesions (APL) (OMIM#209500) is a rare autosomal recessively inherited form of irreversible alopecia characterized by papular lesions of keratin-filled cysts on various regions of the body. Males and females are equally affected and present with a distinct pattern of total hair loss on scalp, axilla and body. It begins shortly after birth with the development of hair loss, and...

Read the complete abstract on PubMed

Topics

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

Share to Alopecia
Share to Mutation
Share to Transcription Factors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 18164595
DOI: 10.1016/j.jdermsci.2007.10.012
PMCID: PMC2914536

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the hairless gene underlie APL in three families of Pakistani origin.PMID 18164595Read ↗

Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene.Semantic proximity Read ↗

Identification of mutations in the human hairless gene in two new families with congenital atrichia.Semantic proximity Read ↗

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families.Semantic proximity Read ↗

Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.Semantic proximity Read ↗

Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias.Semantic proximity Read ↗

Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family.Semantic proximity Read ↗

Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.Semantic proximity Read ↗

Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.Semantic proximity Read ↗

Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.Semantic proximity Read ↗

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.Semantic proximity Read ↗

Genetics of human isolated hereditary hair loss disorders.Semantic proximity Read ↗

Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.Semantic proximity Read ↗

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