215 citations
,
November 2000 in “Journal of Investigative Dermatology” This study found that the tetracycline-regulated transcription system effectively controls conditional gene expression in the mouse epidermis, allowing suppression and activation of specific genes with doxycycline.
124 citations
,
September 1992 in “Endocrinology” This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.
January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
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.
24 citations
,
February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
58 citations
,
April 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified that the enzyme CYP2B12 is skin-specific and likely plays a role in the metabolism of arachidonic acid, a key component in lipid signaling within sebaceous glands.
11 citations
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November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
July 2002 in “Science s STKE” In this study, the researchers reported that altering β-catenin signaling in a transgenic mouse model led to changes in skin cell fate, notably converting hair follicle cells into epidermal cells and forming cysts instead of follicles.
6 citations
,
January 2022 in “Gene” This study identified 53 keratins in the yak genome, predicting diverse phosphorylation sites and subcellular localizations, and highlighted strong gene expression correlations during the yak hair follicle development cycle.
43 citations
,
April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
6 citations
,
March 1996 in “Journal of Investigative Dermatology” In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.
76 citations
,
September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
9 citations
,
June 1999 in “Journal of Investigative Dermatology” This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
January 2008 in “Padua Research Archive (University of Padua)” This study observed that hereditary factors were associated with acne duration but not severity, and found a potential role of CYP450 1A1 polymorphisms in acne pathogenesis.
In this study, researchers found that Fgf21 knockout mice exhibited delayed hair follicle cycling compared to wild-type mice, potentially due to altered miRNA interactions affecting Vezf1 and Map3k1 expression, providing insights into the molecular regulation of hair growth.
In this study, the researchers found no significant link between CAG repeat numbers in the androgen receptor gene and female pattern hair loss in a Chinese population.
6 citations
,
May 1997 in “Journal of Dermatological Science” This study found that a gene from hamster flank organs is indirectly regulated by androgens, despite lacking direct androgen responsive elements, indicating involvement of androgen-dependent transcription factors.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
September 2024 in “Genes” This study found that overexpressing CRABP1 in dermal papilla cells promotes their proliferation and influences key genes in the Wnt/β-catenin signaling pathway, which may offer insights into mechanisms controlling hair follicle development.
29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
8 citations
,
February 2025 in “Cell Systems” This study developed a genetic toolbox to engineer Cutibacterium acnes for dermal applications, successfully creating a strain that secretes antioxidants to reduce oxidative stress in a UV stress model.
5 citations
,
March 2017 in “Gene” This study found that the transcription factor CAP1 negatively regulates KRT83 expression in Tan sheep, possibly influencing their curly hair phenotype.
5 citations
,
June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
24 citations
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June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.