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

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.

The Journal of investigative dermatology - 1 Jun 2016

Zernov Nikolay V, Skoblov Mikhail Y, Marakhonov Andrey V, Shimomura Yutaka, Vasilyeva Tatyana A, Konovalov Fedor A, Abrukova Anna V, Zinchenko Rena A

Abstract excerpt

Hypotrichosis is an abnormal condition characterized by decreased hair density and various defects in hair structure and growth patterns. In particular, in woolly hair, hypotrichosis is characterized by a tightly curled structure and abnormal growth. In this study, we present a detailed comparative examination of individuals affected by autosomal-recessive hypotrichosis (ARH), which distinguishes two types of...

Read the complete abstract on PubMed

Topics

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

Share to Alopecia
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hair Diseases

Share to Hair Follicle

Share to Russia

Share to Sampling Studies

Share to Sequence Deletion

Source

Identifiers

PMID: 26902920
DOI: 10.1016/j.jid.2016.01.037

Genes

KRT25

Variants

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

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.PMID 26902920Read ↗

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).Semantic proximity Read ↗

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.Semantic proximity Read ↗

Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.Semantic proximity Read ↗

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.Semantic proximity Read ↗

Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.Semantic proximity Read ↗

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.Semantic proximity Read ↗

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.Semantic proximity Read ↗

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.Semantic proximity Read ↗

Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case.Semantic proximity Read ↗

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