ArticleAmerican journal of human genetics2016
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 146 citations in OpenAlex.
- Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.Human molecular genetics · 2018Pooled it
- Human Transglutaminases: Updated Insights into Activation Mechanisms, Allosteric Regulation and Disease.International journal of molecular sciences · 2026Review
- Review
- The citrullinating enzyme PADI4 governs progenitor cell proliferation and translation in developing hair follicles.Science advances · 2025Article
- Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.Molecular vision · 2025Article
- The Evolution of Transglutaminases Underlies the Origin and Loss of Cornified Skin Appendages in Vertebrates.Molecular biology and evolution · 2024Article
- Burden of Mendelian disorders in a large Middle Eastern biobank.Genome medicine · 2024Article
- TCHH as a Novel Prognostic Biomarker for Patients with Gastric Cancer by Bioinformatics Analysis.Clinical and experimental gastroenterology · 2024Article
- Investigating the cell membrane localization of PADI4 in breast cancer cells and inhibition of anti-PADI4 monoclonal antibody.Journal of cancer research and clinical oncology · 2023Article
- Co-expression of PADI isoforms during progenitor differentiation enables functional diversity.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2023Article
- Deimination in epidermal barrier and hair formation.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2023Review
- Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss.Nature communications · 2023Article
- Down-regulation of peptidylarginine deiminase type 1 in reconstructed human epidermis disturbs nucleophagy in the granular layer and affects barrier function.Cell death discovery · 2023Article
- New genomic insights into the conformation of Lipizzan horses.Scientific reports · 2023Article
- Examining the Effect ofMolecules (Basel, Switzerland) · 2023Article
- Transglutaminase Activity Is Conserved in Stratified Epithelia and Skin Appendages of Mammals and Birds.International journal of molecular sciences · 2023Article
- PAD4 and Its Inhibitors in Cancer Progression and Prognosis.Pharmaceutics · 2022Review
- Understanding Mammalian Hair Follicle Ecosystems by Single-Cell RNA Sequencing.Animals : an open access journal from MDPI · 2022Review
- Autocitrullination and Changes in the Activity of Peptidylarginine Deiminase 3 Induced by High CaACS omega · 2022Article
- The virtues and vices of protein citrullination.Royal Society open science · 2022Review
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Authors and funding
37 authors at 19 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Uncombable hair syndrome (UHS), also known as "spun glass hair syndrome," "pili trianguli et canaliculi," or "cheveux incoiffables" is a rare anomaly of the hair shaft that occurs in children and improves with age. UHS is characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Until now, both simplex and familial UHS-affected case subjects with autosomal-dominant as well as -recessive inheritance have been reported. However, none of these case subjects were linked to a molecular genetic cause. Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children. All of these individuals carry homozygous or compound heterozygous mutations in one of these three genes, indicating an autosomal-recessive inheritance pattern in the majority of UHS case subjects. The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation. Elucidation of the molecular outcomes of the disease-causing mutations by cell culture experiments and tridimensional protein models demonstrated clear differences in the structural organization and activity of mutant and wild-type proteins. Scanning electron microscopy observations revealed morphological alterations in hair coat of Padi3 knockout mice. All together, these findings elucidate the molecular genetic causes of UHS and shed light on its pathophysiology and hair physiology in general.
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