May 2021 in “Journal of the Endocrine Society” This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
25 citations
,
February 2021 in “Diabetes” This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.
61 citations
,
February 1997 in “Differentiation” Hair differentiation starts earlier than thought, involving multiple type-II keratins.
November 2024 in “Journal of Investigative Dermatology” Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
11 citations
,
January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
January 2019 in “Applied Organometallic Chemistry” The compound (NH4)2Mn0.17Cu0.83Cl4.2H₂O has a specific structure, shows weak magnetism at low temperatures, and undergoes phase changes at high temperatures.
39 citations
,
February 1990 in “The journal of cell biology/The Journal of cell biology” This study identified trichohyalin as an early differentiation marker in hair follicles, with potential structural roles related to alpha-helical formations, based on the partial characterization of its cDNA in sheep.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
November 2011 in “Molecular Cancer Therapeutics” This study discusses the involvement of Hedgehog signaling in various human cancers, detailing different mechanisms of pathway activation and highlighting the potential for therapeutic targeting through pathway inhibition.
December 2022 in “Biochemical and Biophysical Research Communications” This study found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
107 citations
,
April 2014 in “The Plant cell” In this study, researchers showed that the CAP1 gene regulates root hair growth in plants by modulating cytoplasmic ammonium levels and maintaining calcium gradients, highlighting its role in ammonium homeostasis.
3 citations
,
April 2022 in “Frontiers in Physiology” This study found that loss of the Ptch2 receptor in mice leads to increased incisor growth and enhanced mesenchymal stem cell differentiation, highlighting Ptch2's role in organ regenerative potential.
56 citations
,
December 2011 in “Steroids” This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
43 citations
,
February 2013 in “Developmental dynamics” This study found that Eda and activin A regulate Foxi3 expression, which may contribute to the development of hypohidrotic ectodermal dysplasia by affecting Foxi3 activity in ectodermal appendages like hair and teeth.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the deletion of Tet2/3 enzymes in mice led to changes in skin development and hair follicle differentiation, ultimately causing hair loss and altered gene expression.
17 citations
,
January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.
2 citations
,
May 1985 in “Environmental Health Perspectives” This report examines the mechanisms by which TCDD affects human epidermal and carcinoma cells, aiming to create a risk assessment model for halogenated aromatic compounds, but presents no new clinical results.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
27 citations
,
May 2007 in “Archives of dermatological research” In this study, alopecia areata patients treated with diphencyprone showed a significant increase in CD8 lymphocytes around hair bulbs, which may be associated with hair regrowth.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.
7 citations
,
June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduces the Hair Cell Analysis Toolbox (HCAT), a machine-learning software that automates the analysis of cochlear hair cells, enabling unbiased and comprehensive imaging data interpretation.
29 citations
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April 2020 in “Biomolecules” The study suggests that a 3D culture system using the RAD16-I peptide scaffold can help restore the original phenotype of hair follicle dermal papilla cells and support their osteogenic and adipogenic differentiation.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
3 citations
,
January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.