January 2020 in “Молодий вчений” B(III) blood type may have higher hemoglobin levels, but stress affects this, and hair iron levels correlate with hemoglobin in some blood types.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
10 citations
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November 2008 in “Veterinary Dermatology” In this study, the misshaped and hairy ear phenotype in mutant mice was linked to mis-expression of certain Hoxc genes due to a chromosomal inversion.
21 citations
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September 2010 in “Cancer Prevention Research” This study suggests that IGFBP-2 may play a role in basal cell carcinoma development by mediating epidermal progenitor cell expansion in hair follicles with activated Shh signaling.
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.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
42 citations
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July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
June 2019 in “International journal of dermatology and venereology” This review discusses the hedgehog signaling pathway's role in cutaneous tumors and hematological disorders, highlighting its potential as a therapeutic target, but reports no new clinical findings.
52 citations
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February 1986 in “Journal of Histochemistry & Cytochemistry” This study found that monoclonal antibodies can identify specific immunological characteristics of hair fibrous proteins, with some antibodies reacting only with hair proteins and others showing broader activity with skin and epithelial cells.
1 citations
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January 2023 in “In vivo/In Vivo” This study suggests that the activation of box A in mesenchymal cell models may enhance stem cell properties, increasing the expression of stemness markers like OCT4, NANOG, and SOX2.
2 citations
,
January 1984 in “Progress in neuro-psychopharmacology & biological psychiatry” This study found that benzodiazepine therapy in women with idiopathic hirsutism significantly increased sex hormone binding globulin and decreased dehydroepiandrosterone sulphate, but did not significantly affect hair growth.
January 2026 in “Biochemical Pharmacology”
May 2021 in “Histochemistry and Cell Biology” This article highlights studies on cholesterol transporter proteins in hair cycles, epithelial-to-mesenchymal transition in cancer, ovarian hormone effects on cell polarity before implantation, and UV effects on rodent skin, without providing new clinical results.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
60 citations
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April 1998 in “Baillière s Clinical Endocrinology and Metabolism” This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.
56 citations
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November 2007 in “Molecular and cellular endocrinology” This study identified enzymes responsible for regulating androgen action in the human prostate, suggesting that inhibiting AKR1C2 or RL-HSD may have therapeutic potential in androgen insufficiency or benign prostatic hyperplasia, respectively.
25 citations
,
August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
14 citations
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.
February 2025 in “Infectious Diseases & Immunity” This case report highlights two instances of suspected human herpesvirus 6 reactivation in patients with existing psychiatric disorders, underscoring the need for further research into the relationship between viral reactivation and psychiatric conditions.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
44 citations
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June 2015 in “British Journal of Pharmacology” This study found that betulinic acid inhibits hepatitis C virus replication by suppressing the NF-κB- and ERK1/2-mediated COX-2 pathway, suggesting its potential as a therapeutic supplement.
January 2017 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” This study found that in transgenic mice overexpressing a mutant hairless gene, changes in its expression affected hair loss and regrowth, implicating the gene's role in hair follicle biology.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
146 citations
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February 2012 in “Journal of Clinical Investigation” This review discusses the role of Hedgehog signaling in basal cell carcinoma development and highlights genetic mouse models and potential targeted therapies, but reports no new clinical results.
February 2026 in “International Journal of Molecular Sciences” This study found that 3-hydroxypropionic acid improved the function of hair follicle cells under oxidative stress, suggesting potential as a treatment for stress-related hair loss.
27 citations
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May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.