12 citations
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February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
11 citations
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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.
This study found that in vitro, EGCG may help treat colorectal cancer by targeting iron chelation and the ER stress pathway, leading to apoptosis in cancer cells while sparing normal cells.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a connection between the unfolded protein response and upregulation of NKG2D ligands in stressed hair follicles, highlighting a potential role of PRDX5 in alopecia areata pathogenesis.
October 2022 in “Biomedicines” In this rat study, offspring from females fertilized by finasteride-treated males showed hyperglycemia and increased hepatic glycogen, linking paternal androgen imbalance to liver issues across generations.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.
January 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified non-structural proteins in preschool children's scalp hair that suggest potential biomarkers for brain development, immune function, and stress response with heritability and age-related differences.
December 2025 in “Biomolecules” This study reviews the emerging role of protein S-palmitoylation in dermatology, highlighting its impact on skin functions like inflammation and barrier maintenance, and evaluating its potential as a therapeutic target for skin disorders such as alopecia and psoriasis.
7 citations
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February 2024 in “The Journal of Physiology” This study suggests that male sex and androgenic steroid use increase the risk of atrial arrhythmias in individuals with arrhythmogenic right ventricular cardiomyopathy, especially those with desmosomal gene mutations.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
9 citations
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March 2019 in “Molecular & cellular proteomics” In this study, around 1% of proteins in skin fibroblasts significantly changed in response to reductive stress, affecting collagens and MAPK signaling pathways.
13 citations
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November 2017 in “Journal of Cellular and Molecular Medicine” This workshop reviewed various roles of endoplasmic reticulum chaperones, including calreticulin, in cellular signaling, disease states, and potential markers, but reports no new experimental findings.
This study found that inhibiting the Mitochondrial Pyruvate Carrier in human scalp hair follicles caused metabolic stress that halted cell proliferation and disrupted key signaling pathways, with these effects partially reversed by an integrated stress response inhibitor.
4 citations
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May 2025 in “npj Parkinson s Disease” This study identified peripheral myeloid cells as the earliest dysregulated immune cells in PINK1 KO mice with Parkinson’s-like symptoms following intestinal infections, suggesting that PINK1 regulates gut immune functions linked to early Parkinson’s disease mechanisms.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
26 citations
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December 2020 in “Nature metabolism” Martin-Perez et al. show that rapamycin's beneficial effects in a mouse model of Leigh syndrome are linked to the downregulation of protein kinase C.
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.
74 citations
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May 2016 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” This review identifies shared interferon gamma-driven immune pathways in vitiligo and alopecia areata, revealing potential targets for new treatments, but reports no clinical results.
This chapter reviews recent developments in vitiligo research, highlighting the role of melanocyte stem cell differentiation and oxidative stress in its management, but reports no new clinical results.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that topical bortezomib increased cell proliferation in hair follicles and sebaceous glands in mice and may activate hair keratin gene expression through GATA-3 transcription factors.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that extracellular matrix scaffold membranes performed less effectively in wound healing for aged mice compared to younger ones, with senescent SPP1+ macrophages potentially hindering epidermal and fibroblast repair abilities.
35 citations
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May 2022 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses the current understanding of androgen biosynthesis, mechanisms of action, and their roles in human biology, as well as related congenital and acquired disorders, but it reports no new research findings.
This study demonstrated that cryogelation of human hair keratin allows the development of 3D scaffolds with tunable properties, supporting cell adhesion and proliferation for potential biomedical applications.
260 citations
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July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
215 citations
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March 2018 in “Archives of Toxicology” This study found that PM2.5 exposure induced oxidative stress in human keratinocytes and mouse skin, causing cellular damage, which was mitigated by the antioxidant N-acetyl cysteine.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
66 citations
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May 2021 in “Science Advances” In this study, researchers found that electrospun membranes with aligned surface topography advanced the immune response towards an adaptive stage and highlighted the role of T cells in hair follicle regeneration in mice, showcasing the intricate interactions between immune and skin cells.
22 citations
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April 2020 in “Scientific reports” This study explored gene expression in Changthangi goats and found that higher expression of keratin-related genes and specific signaling pathways may play a role in the development of Pashmina fiber.
17 citations
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July 2017 in “Molecular and Cellular Endocrinology” The authors reviewed the mechanisms behind Kennedy's disease, noting advances in therapeutic strategies such as androgen deprivation and gene silencing that may soon expand treatment options for this incurable neuromuscular condition.
July 2025 in “Scientific Reports” In this study, peptide nanofiber gels RG and RJ significantly accelerated the healing of deep second-degree burn wounds in vivo, with greater wound closure rates and enhanced tissue regeneration compared to controls, attributed to increased angiogenesis and reduced systemic inflammation.