3 citations
,
March 2016 in “Experimental Dermatology” This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.
21 citations
,
March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
3 citations
,
December 2022 in “npj Regenerative Medicine” This review discusses the role of heparan sulfate proteoglycans in regulating stem cell fate and highlights their potential as targets for addressing hair loss, without reporting new clinical results.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
6 citations
,
May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
2 citations
,
January 2011 in “Dental Medicine Research” This study suggests that Keratin 6hf may be a potential marker of oral squamous cell carcinoma and could play a role in its progression, though further research is needed to understand its function.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
December 2014 in “ScholarSpace (University of Hawaii at Manoa)” In this study, researchers observed that HIF1α is expressed in germ cells throughout fetal and neonatal development, suggesting it may regulate telomerase activity and maintain the undifferentiated state of stem/progenitor cells.
7 citations
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December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
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.
This study investigates the role of AR up-regulation in the pathogenesis of androgenetic alopecia, but it remains unclear if HSP27 and miR-1 are jointly involved.
11 citations
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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.
10 citations
,
May 2018 in “Cell death discovery” This study found that the interaction between heat shock protein 90 and lamin A/C is crucial for the growth, migration, and self-aggregation of dermal papilla cells, suggesting a potential role in alopecia areata mechanisms.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
20 citations
,
October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
32 citations
,
August 2020 in “American Journal Of Pathology” This study reports that in ovarian high-grade serous carcinoma, overexpressed S100A4 likely promotes epithelial-mesenchymal transition and cancer stem cell properties, affecting tumor behavior through its interaction with NMIIA and mutant p53.
2 citations
,
June 2018 in “International Journal of Pharmacological Research” This article reviews treatments for progeria, including aspirin, hydrotherapy, and farnesyl transferase inhibitors, but reports no new clinical results.
June 2023 in “GSC Advanced Research and Reviews” This review covers the history, symptoms, and treatment progress for Hutchinson-Gilford Progeria Syndrome, noting that while no cure exists, understanding its molecular mechanism may improve future treatment strategies.
18 citations
,
December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” The authors concluded that increased expression of the HSD11B1 gene in adipose tissue correlates with obesity markers and predicts insulin resistance, but this association is independent of polycystic ovary syndrome when adiposity is controlled for.
11 citations
,
January 2015 in “Journal of cellular physiology” This study suggests that abnormal hair cycles in Hr mutant mice may be caused by HR protein overexpression, which down-regulates miR-31 and increases Tgf-β2 expression.
24 citations
,
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.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
3 citations
,
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.
27 citations
,
April 2018 in “Scientific Reports” This study found that in psoriasis patients, the K17 protein probably functions as an autoantigen, with the HLA-Cw*06:02 risk genotype strongly linked to the T cell response size.
3 citations
,
December 2023 in “Aging” In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.
January 2026 in “MDPI (MDPI AG)” This study revealed that heterozygous mice with the hairy ear mutation exhibited significant gene expression changes related to hair growth, such as upregulation of hair keratin and keratin-associated proteins, shedding light on the Hoxc gene cluster's role in this phenotype.
3 citations
,
September 2024 in “Journal of Microbiology and Biotechnology” This study found that human placenta hydrolysate effectively inhibited atopic dermatitis development in stimulated human cells and a mouse model, suggesting its potential as a therapeutic agent for related skin diseases.
11 citations
,
March 2019 in “EMBO molecular medicine” This paper reviews the role of endoplasmic reticulum stress and the unfolded protein response in Hutchinson-Gilford progeria syndrome-related atherosclerosis, especially in vascular smooth muscle cells, but reports no clinical findings; intervention in these pathways is suggested as a potential therapeutic strategy.
48 citations
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April 2008 in “Human Molecular Genetics” This study found that although progerin expression in mouse skin causes significant nuclear shape changes in keratinocytes, it does not result in alopecia or common skin abnormalities seen in human Hutchinson–Gilford progeria syndrome.
January 2004 in “Linchuang pifuke zazhi” This study identified specific genes that are more abundantly expressed in black hair than in gray hair, with black hair displaying higher expression of pigment-related proteins and gray hair showing increased expression of keratin-related genes.