December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.
17 citations
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August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
3 citations
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March 2017 in “Pediatric Dermatology” This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
July 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed a potent Wnt surrogate with high specificity for the Fzd7 receptor in mice, promoting full hair follicle regeneration and robust hair growth, suggesting potential applications in tissue development and targeted regeneration.
10 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
20 citations
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July 2013 in “European Journal of Oral Sciences” This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.
33 citations
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March 2015 in “Experimental Dermatology” In this study, LHX2 and SOX9 were found to mark distinct epithelial progenitor cell populations within human hair follicles, suggesting roles in maintaining the hair follicle epithelium.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
24 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.
37 citations
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January 1993 in “Journal of Investigative Dermatology”
32 citations
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February 2008 in “Developmental dynamics” This study indicates that the Sp6 gene is crucial for the development of skin, teeth, limbs, and lungs in mice, possibly through regulating apoptosis.
6 citations
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March 1996 in “Journal of Investigative Dermatology” July 2026 in “Pediatric Allergy and Immunology” 65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
February 2024 in “BMC genomics” This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.
138 citations
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June 2012 in “Genes & Development” This study found that dermal Shh signaling regulates specific dermal papilla signatures essential for maintaining hair follicle development, suggesting that the Shh-Noggin signaling loop is crucial for hair morphogenesis.
April 2017 in “Journal of Investigative Dermatology” This study identified the dermal sheath as a key component of the hair follicle niche, essential for outer root sheath regression during the hair cycle, highlighting its importance in hair follicle support and regulation.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
January 2026 in “Biomaterials” 33 citations
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August 2000 in “Experimental Cell Research” April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.
This study discovered that in *Drosophila*, knockdown of specific storage proteins in adipocytes decreased germline stem cell maintenance, implicating a role for these proteins in adult tissue regulation.
22 citations
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March 2019 in “The Journal of Cell Biology” This study identified that the Wave complex proteins ABI1 and Wave2 play a crucial role in regulating epidermal shape and growth during skin development, notably influencing SOX9 expression and Wnt signaling pathways.