August 2025 in “Dermatopathology” This study identified 96 cases of pilomatricomas linked to genetic syndromes, including a novel association with Apert syndrome, highlighting that these tumors often manifest as the first indication of underlying conditions in pediatric patients.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
98 citations
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June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
February 2023 in “Journal of dermatology” This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.
September 2025 in “Animals” This study identified novel genetic variations in the KRTAP22-2 gene among eight sheep breeds but found no association between these genotypes and wool fibre traits, indicating possible species-specific differences compared to goats.
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
2 citations
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March 2023 in “Research Square (Research Square)” This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.
75 citations
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June 2007 in “Journal of Biological Chemistry” This study found that the combination of MT-DADMe-ImmA and MTA selectively induced apoptosis in head and neck squamous cell carcinoma cell lines FaDu and Cal27, but not in normal fibroblasts or MTAP-deficient breast cancer cells.
1 citations
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September 2018 in “Australasian Journal of Dermatology” In this report, a 2-year-old male with GAPO syndrome exhibited androgenetic-like alopecia with normal testosterone levels and telogen hair loss, which are novel findings for this condition.
3 citations
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August 2022 in “Archives animal breeding/Archiv für Tierzucht” This study found that specific genetic variants of the KAP22-1 gene in Egyptian sheep breeds were significantly associated with wool traits like crimp, staple length, kemp score, and greasy color grade, suggesting their potential use in breeding programs.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
17 citations
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June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
December 2022 in “Curēus” This case report describes a 5-year-old girl with atrichia with papular lesions, whose diagnosis was confirmed through genetic testing identifying mutations in the hairless gene.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
In this study, researchers found that the keratin-associated protein 36-1 gene (KRTAP36-1) allele C is linked to variations in mean fibre curvature of fine wool in Chinese Tan lambs, suggesting its role in their distinctive curly coat.
95 citations
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February 2019 in “The New England Journal of Medicine” This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.
100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies gene-regulatory networks related to genetic variants in skin and hair diseases, suggesting that dermal papilla cells are crucial in androgenetic alopecia.
6 citations
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August 2024 in “BMC Ophthalmology” This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.
1 citations
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September 2023 in “Animals” This study found that genetic variants in the goat KRTAP22-2 gene are associated with the mean fiber diameter of cashmere in Longdong Cashmere goats, suggesting these variants could serve as molecular markers for improving cashmere traits.
In this study, researchers identified specific gene polymorphisms in Subo Merino sheep that significantly affect wool traits, suggesting these genetic markers could aid in breeding high-quality fine-wool sheep.
12 citations
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February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
July 2022 in “The Egyptian Journal of Hospital Medicine” This study found no significant association between the IL-15 genetic polymorphism (rs17015014) and the risk or severity of Alopecia Areata in the examined population.
3 citations
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April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
24 citations
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October 2019 in “Genes” In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.
13 citations
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April 1982 in “The Journal of Dermatology” This study found that poly(adenosine diphosphate-ribose) synthesis in human skin varies by cell type and condition, with distinct patterns in psoriatic, cancerous, and normal tissues.
May 2026 in “Research Square” This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
2 citations
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December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” This study found no evidence that CTLA-4 gene polymorphism (rs733618) plays a role in polycystic ovarian syndrome among the participants.