1 citations
,
June 2022 in “Experimental dermatology” This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.
January 2008 in “US endocrinology” This paper describes the hGRα gene structure and its expression, focusing on the functional properties of the longest GRα isoform, but reports no new results.
60 citations
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March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
20 citations
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February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
31 citations
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October 1992 in “PubMed” This study demonstrated immunological cross-reactivity between mycobacterial heat-shock protein 65 and human epidermal cytokeratin 1/2, suggesting that this cross-reactive epitope might play a role in skin diseases.
35 citations
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April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
57 citations
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May 2014 in “Molecular Phylogenetics and Evolution” This study utilized a sequence-structure alignment approach to improve the characterization of Class A Rhodopsin GPCR superfamily, including orphan and unclassified receptors, through evolutionary analysis.
3 citations
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August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
70 citations
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March 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” This study discusses the potential of targeting 11β-HSD1 for treating metabolic syndrome and highlights emerging promising data from human trials on selective 11β-HSD1 inhibitors.
39 citations
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August 1998 in “FEBS Letters” In this study, researchers identified two novel peptidylarginine deiminases from treated rat keratinocytes, both showing enzyme activity with PAD‐R11 reflecting a characteristic of epidermal enzymes.
63 citations
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November 1999 in “British journal of dermatology/British journal of dermatology, Supplement” This study observes the expression of mRNA for androgen receptor, 5α‐reductase, and 17β‐hydroxysteroid dehydrogenase in human dermal papilla cells.
48 citations
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January 2011 in “Neuropharmacology” Isolation stress in rats reduces brain enzyme levels, affecting dopamine function.
50 citations
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February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
January 2011 in “Medical Recapitulate” This article reviews the role of 5α-reductase in androgen-related diseases like acne and androgenetic alopecia and reports no new clinical results, emphasizing the importance of studying the enzyme.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.
22 citations
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April 2010 in “Journal of Cellular Biochemistry” This study concluded that the hairless protein interacts with the vitamin D receptor to repress transcription crucial for hair cycling, employing multiple protein interfaces and modulating chromatin structure.
1 citations
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October 2024 in “JCEM Case Reports” In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
13 citations
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August 1995 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that the pH dependency of rat steroid 5α-reductase type II isozyme significantly affects its kinetic properties, including Vmax and Km, suggesting past discrepancies in literature may arise from these pH variances during assays.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” This study suggests that SRD5A2 polymorphisms may increase the risk of acne in individuals with normal serum testosterone levels, particularly in the Chinese population.
12 citations
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February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
4 citations
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November 2022 in “Frontiers in endocrinology” This study found that intracrine androgen signaling via 5α-reductase is essential for optimal endometrial decidualization and vascular development during this process in mice.
4 citations
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January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.