7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
In this study, researchers developed de novo designed hetero-bifunctional proteins as an alternative approach for targeted protein degradation, successfully targeting BCL-xL for degradation in cells and inducing apoptosis, which may expand the range of addressable E3 ligases and disease targets.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrated that the Alopecia Areata Disease Activity Index (ALADIN), a new biomarker, strongly correlates with treatment response in patients using JAK inhibitors for alopecia areata.
August 2026 in “JAMA Dermatology” This study found that upadacitinib significantly improved hair regrowth compared to placebo in adults and adolescents with severe alopecia areata, and demonstrated a positive benefit-risk profile.
51 citations
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November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
29 citations
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January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.
January 2026 in “Figshare” This table reports gene set enrichment analysis scores for hair follicle compartments across diseases and sampling methods, providing comparisons but no new experimental findings.
41 citations
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January 2015 in “Development” This study found that inducing Atoh1 expression in transgenic mice is sufficient to generate new Merkel cells in the epidermis, with variations by skin location, developmental age, and hair cycle stage.
12 citations
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June 2025 in “Gut Microbes” This study developed BroadAMP-GPT, a computational-experimental framework, to discover new antimicrobial peptides, identifying candidates effective against multidrug-resistant pathogens. Notably, AMP_S13 showed strong stability, low toxicity, and efficacy in infection models, highlighting the platform's potential in combating antimicrobial resistance.
31 citations
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February 2007 in “Molecular Carcinogenesis” This study found that transgenic mice overexpressing human ATF3 showed hyperplastic and dysplastic changes in epithelial tissues, with a high incidence of oral cancer, suggesting potential oncogenic properties of ATF3.
March 2024 in “Dermatology and therapy (Internet)” This study identified eight genetic markers associated with androgenetic alopecia, suggesting that these SNPs could influence individualized therapeutic responses and highlight the need for personalized treatment strategies.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that in a mouse model of alopecia areata, tofacitinib inhibited CD8+ T cell infiltration at hair follicles by modulating linoleic acid metabolism and magnesium pathways, offering insights into potential therapeutic strategies for the condition.
January 2016 in “Human & Experimental Toxicology” This study reported that CCT oligodeoxynucleotide induced patchy hair loss in male mice with specific genetic traits, suggesting gender and genetic preferences in immune response.
January 2024 in “Wiadomości Lekarskie” This study reports that Abelson Interactor 1 (ABI1) regulates androgen receptor transcription in prostate cancer, identifying it as a potential target for new therapies addressing treatment resistance.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
42 citations
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April 2009 in “Human Genetics” This study suggests that the AGA risk haplotype in Europeans was driven to high frequency by positive selection, likely associated with a variant in the EDA2R gene.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
January 2026 in “Figshare” This report presents gene set enrichment scores for hair follicle compartments using tape strip and bulk biopsy methods, providing statistical data but no new experimental findings.
8 citations
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December 2017 in “Skin appendage disorders” This study observed that the genes WNT7A, CASP7, and TNF were overexpressed in early stages of androgenetic alopecia, suggesting involvement of the WNT pathway, apoptosis, and inflammation in the disorder's development.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
4 citations
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December 2012 in “Human Biology” In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.
4 citations
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August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed the iCOUNT tool, which provides insights into stem cell behavior by tracking cell division events and molecular consequences in human and mouse neural stem/progenitor cells.
5 citations
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January 2022 in “Dermatology Reports” This report describes a case where the JAK inhibitor tofacitinib led to hair regrowth in a patient with alopecia totalis but also worsened facial acne, highlighting a unique adverse effect.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
June 2026 in “arXiv (Cornell University)” This study proposes a new test for genome-wide association studies that incorporates Hardy-Weinberg equilibrium into SNP analysis, demonstrating improved power and interpretability over traditional methods, as evidenced by simulations and an alopecia study dataset.
July 2022 in “International Journal of Trichology” This case report describes a young Indian boy with resistant alopecia areata who experienced nearly complete hair regrowth within 5 months of treatment with oral tofacitinib.
4 citations
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January 1993 in “Clinical Chemistry and Laboratory Medicine (CCLM)” This study developed a highly sensitive fluorescent assay for measuring enzyme activity in single hair follicles, allowing the efficient analysis of over 100 samples per day.
10 citations
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November 2021 in “PLoS ONE” This study suggests that the T allele of the SNP rs2476601 in the PTPN22 gene may increase the risk of alopecia areata, although further studies are necessary to validate this finding across different populations.
August 2023 in “Journal of Investigative Dermatology” This study using scRNA-seq on 96 skin biopsies from 51 healthy individuals revealed distinct cell signaling pathways in different skin sites, including unique pathways in facial and palmoplantar skin, which may explain their varying susceptibilities to skin disorders.