3 citations
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May 2023 in “Precision clinical medicine” This study analyzed gene expression data to identify key genes involved in severe forms of alopecia areata, discovering four immune monitoring genes (LGR5, SHISA2, HOXC13, S100A3) with potential for early diagnosis and better understanding of the disease's biological mechanisms.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
1 citations
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January 2025 in “Frontiers in Oncology” This review highlights REV7's crucial roles in maintaining genome stability, its implication in several cancers, and its association with poor prognoses and treatment resistance, while also noting that REV7 suppression may improve chemotherapy sensitivity.
February 2026 in “Frontiers in Immunology” In this review, researchers detail how immunosenescence and chronic neuroinflammation contribute to Parkinson's disease progression, exploring potential therapeutic strategies targeting this axis, such as senolytic agents and immune rejuvenation, while highlighting associated challenges and future research needs.
December 2025 in “Frontiers in Veterinary Science” In this study, researchers explored hair follicle development in Qianhua Mutton Merino sheep, identifying key genes like KRT27 and IGF-2 that impact this process, with findings suggesting significant molecular changes as sheep mature from newborn to one year old.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that AP-2α and AP-2β transcription factors are crucial for maintaining adult skin homeostasis, with their inactivation in keratinocytes leading to impaired differentiation, hair abnormalities, and inflammation, highlighting their key regulatory roles.
August 2023 in “Research Square (Research Square)” This study found that two microRNAs, oar-miR-23b and oar-miR-133, inhibit the development of hair follicles in superfine wool sheep by targeting genes involved in key signaling pathways, suggesting their potential use as molecular markers for breeding fine wool sheep.
January 2022 in “Dermatology Review” This study found that patients with chronic kidney disease-associated pruritus had elevated serum levels of interleukin 31, suggesting a possible role of this cytokine in the condition.
September 2020 in “Research Square (Research Square)” This study identified 21 candidate genes related to immunoglobulin concentrations in colostrum and serum of dairy cattle, which may aid in genetic improvement for disease resistance.
July 2020 in “Research Square (Research Square)” This study identified 21 candidate genes linked to immunoglobulin levels in colostrum and serum of dairy cattle, suggesting potential for genetic selection to enhance immunity.
This Ph.D. project aims to evaluate the self-assembling potential of hair keratin extracts and study the cellular response to both crude and purified keratins, highlighting their potential applications from biomedical to water remediation.
135 citations
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October 1997 in “Journal of biological chemistry/The Journal of biological chemistry” This study suggests that trichohyalin is modified by peptidyl-arginine deiminase before being cross-linked by TGase 3, allowing the formation of rigid structures in hair follicle cells.
51 citations
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September 2012 in “Biomacromolecules” This study found that disulfide bonds in keratin increase its strength and toughness, with some loss of α-helical structure under load, highlighting their role in trichocyte α-keratin's mechanical properties.
49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
68 citations
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April 2014 in “Journal of Molecular Endocrinology” This review summarizes existing knowledge on androgen receptor activity in breast cancer and reports no new clinical findings, with emphasis on therapies targeting androgen signaling in specific BC subtypes.
1 citations
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January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
March 2018 in “Suez Canal University Medical Journal” This review examines targeting the JAK-STAT pathway in inflammatory skin diseases, highlighting existing JAK inhibitors and potential developments, but presents no new experimental or clinical results.
15 citations
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December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
3 citations
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July 2023 in “Biomolecules” This study reports that some human cell surface HLA-I molecules (including HLA-B27) can appear without their usual peptide component, potentially altering immune interactions, influencing arthritis development in specific mice models, and exhibiting upregulation in certain cancer cells.
53 citations
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May 1988 in “Journal of Molecular Evolution” 20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
6 citations
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March 1996 in “Journal of Investigative Dermatology” 28 citations
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December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
32 citations
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January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
13 citations
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May 2016 in “International journal of biological macromolecules” This study demonstrated that molecular dynamics simulations of keratin could effectively model the mechanical properties of hair, aligning well with experimental data, especially when conducted in vacuum conditions.
62 citations
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December 2007 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that enzymatic conversion of Arg-51 in S100A3 protein to citrulline promotes homotetramer assembly, potentially increasing Ca²⁺ binding required for hair cuticular barrier formation.
53 citations
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March 2006 in “Biopolymers” This study suggests that increased amounts of less stable disulfide conformers in hair shafts may be linked to the brittleness observed in trichothiodystrophy.
April 2018 in “Journal of Investigative Dermatology” This study found that desmosomal cadherin desmoglein 3 loses its rigidity upon Ca2+ removal, regardless of desmosome functional state, suggesting a central role for signaling in hyper-adhesion.