June 2008 in “Wound Repair and Regeneration” In this study, Msx-2 knockout mice showed enhanced re-epithelialization and faster wound closure compared to wild-type controls, suggesting Msx-2 may influence skin morphogenesis during wound repair.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
1 citations
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September 2023 in “Genes” This study found no significant difference in CUX1 core promoter methylation levels between different lambskin patterns in Hu sheep, suggesting other mechanisms influence CUX1 expression related to hair follicle development.
July 2025 in “Genome biology” This study highlighted the effectiveness of HT-scCAT-seq as a tool for understanding gene regulation in single cells, offering insights into embryonic skin development and proposing a framework for exploring regulatory mechanisms in various biological and disease contexts.
57 citations
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April 2009 in “Differentiation” This study demonstrates that SDF-1/CXCL12 and CXCR4 signaling play a crucial role in directing the migration and positioning of melanoblasts in mouse hair follicle formation.
132 citations
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August 2008 in “Development” This research found that Dlx3 plays a central role in hair formation and regeneration, with its absence leading to alopecia through disrupted differentiation and signaling pathways.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This research suggests that hair keratins evolved from claw keratins in a hairless ancestor, with Hoxc13 controlling their expression in tetrapods, evidenced by the knockout of Hoxc13 hindering claw formation in Xenopus tropicalis frogs.
June 2026 in “Frontiers in Cell and Developmental Biology” This review synthesizes the diverse roles of the transcription factor LHX2 in development, tissue maintenance, and injury repair across various organ systems, highlighting its potential therapeutic applications and significance in regenerative medicine, particularly in developmental disorders and tissue regeneration.
March 2016 in “Benha Veterinary Medical Journal” This study investigated the gene Col19a1, finding its expression is specific to certain cells during hair follicle development in mice, suggesting its potential role in hair follicle morphogenesis.
3 citations
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March 2025 in “Science Advances” This study found that the unique crest feather formation in Polish chickens is driven by a 195-bp duplication in the HoxC10 gene region, which alters gene expression by modifying the genomic structure, suggesting a mechanism for diverse integumentary appendages in birds.
10 citations
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June 2022 in “Development” This study suggests that distinct chromatin topologies allow different lineage-specific enhancers to regulate Hoxd genes in mouse vibrissae and chicken feather primordia, while conserved regulatory elements maintain transcriptional robustness in the embryonic trunk across species.
74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
October 2025 in “Cell Death and Disease” In this study, researchers developed two novel mouse models to investigate how CD271 deletion in keratinocytes affects skin homeostasis, finding that it leads to changes resembling dysplastic skin conditions with immune cell recruitment and inflammatory cytokine release.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
This study identified ISX9 as a novel agonist of the Wnt/β‐catenin pathway, which promoted hair regrowth in mice and may offer a therapeutic approach for alopecia.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that typical skin lesions in Carney complex may originate from the pro-melanogenic activity of a specific dermal fibroblast population influenced by PKA signaling.
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.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
50 citations
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December 2005 in “European Journal of Immunology” This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.
117 citations
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April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.
41 citations
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July 2016 in “Journal of Investigative Dermatology” This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.
January 2026 in “Human Mutation” This study reports that a clinical prognostic model based on immune-related genes improved survival prediction for patients with clear cell renal cell carcinoma, also identifying potential drugs targeting the gene DOCK8.