May 2025 in “Dermatology Reports” In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.
3 citations
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January 2021 in “Veterinary dermatology” This study describes a rare form of congenital alopecia in domestic short hair cats, characterized by hair shaft defects and follicular dystrophy similar to those seen in certain mutant mouse strains.
26 citations
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October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
4 citations
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May 2006 in “médecine/sciences” This study suggests that the hairless gene encodes a nuclear factor important for hair follicle integrity, and its absence leads to hair follicle loss and defects in tissue development.
47 citations
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April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
18 citations
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August 2018 in “The FASEB journal” This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.
18 citations
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May 2023 in “Science Advances” In this study, transiently activating the sonic hedgehog signaling pathway in chickens transformed reticulate scales on the feet into feathers comparable to body feathers, without ongoing treatment, suggesting this pathway affects the diversity of bird skin appendages.
3 citations
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January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” This study reported that knocking out the HR gene in pigs using CRISPR/Cas9 led to hairless eyelids and abnormalities in the thymus and peripheral blood, suggesting pigs as a model for human HR-related hair disorders.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.
2 citations
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October 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Aire‒/‒ mice spontaneously developed persistent AA-like lesions, highlighting a potential role for AIRE in hair follicle biology and pathogenesis of alopecia areata.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
32 citations
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May 2012 in “PloS one” This study found that despite the persistence of aberrant double-negative T-cells, functional immune-competence was maintained after thymic transplantation in a patient with a rare FOXN1 mutation.
1 citations
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February 2023 in “Pediatric Dermatology” This case report of an infant with IPEX syndrome highlights the importance of early recognition and treatment, as the patient experienced severe symptoms and succumbed before stem cell transplantation.
This study found that innate lymphoid cells-type 1 (ILC1) can induce alopecia areata by disrupting hair follicle immune privilege without the involvement of classical CD8+ T cells.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
14 citations
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January 2023 in “Nature Immunology” iNKT cells help develop and maintain healthy skin in young mice.
3 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
4 citations
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December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
8 citations
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October 2012 in “Transgenic Research” This study found that transgenic mice overexpressing human H-ferritin showed mild growth retardation and a temporary hairless phenotype, highlighting H-ferritin's physiological roles.
April 2020 in “International journal of research in dermatology” This case report presents an 8-year-old girl with congenital atrichia, marked by complete hair loss and papular lesions, linked to mutations in the human hairless gene.
43 citations
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March 1942 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that mice can synthesize inositol, but this ability is impaired when pantothenic acid is lacking in their diet.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
December 2023 in “International Journal of Dermatology” This study reports that trichoscopy and histopathology can effectively diagnose alopecia areata incognito and differentiate it from telogen effluvium or androgenetic alopecia, aiding clinicians in better hair regrowth management.
January 2004 in “Laboratory Animal Science and Administration” This study found that the hairless mutant gene in C 57BL/6 mice affects the hair follicle cycle and leads to early thymus degeneration and distinct skin changes.
9 citations
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January 1975 in “PubMed” In this study, researchers using a mouse model found that the hairlessness in nude mice is likely due to a shared defect in the thymus and skin, not thymic dysgenesis alone.
27 citations
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June 2020 in “Genes” This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.
19 citations
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November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the absence of Hif-p4h-2 in specific mouse skin cells disrupted hair follicle development, leading to hair loss due to irregular keratin formation and pathway signaling.
May 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found potential evidence of inducible skin-associated lymphoid tissue (iSALT) in alopecia areata patients undergoing topical immunotherapy, which may suggest an essential role in treatment efficacy.