January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that typical skin lesions in Carney complex may originate from the pro-melanogenic activity of a specific dermal fibroblast population influenced by PKA signaling.
3 citations
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August 2022 in “Biochemical Genetics” 4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
2 citations
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November 2025 in “PLoS ONE” This study found that CDK4/6 inhibitors for HR+/HER2- advanced breast cancer are linked to typical adverse events such as fatigue and neutropenia, while also identifying unexpected reactions, highlighting potential safety concerns in their real-world use.
This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.
In this study, researchers successfully synthesized a rigid 3a-arylhexahydropentalene-1,6-dione from the easily accessible starting material cyclopent-2-en-1-one, highlighting a structural motif common in natural products and pharmaceuticals.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
3 citations
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December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
4 citations
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September 2013 in “Journal of biomolecular structure and dynamics/Journal of biomolecular structure & dynamics” This study suggests that caribine may enhance the interaction between CRFR and maltose binding protein, potentially offering a new approach for treating hair loss.
11 citations
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March 2013 in “Journal of Applied Biomedicine” This study found that β-catenin is essential for hair follicle stem cell proliferation and may regulate this process through the PI3K/Akt pathway, suggesting its potential as a therapeutic target.
45 citations
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March 1997 in “Journal of Investigative Dermatology” TCDD changes skin gene expression and may harm skin health.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
43 citations
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September 2014 in “Molecular Plant” This study found that the signaling peptide CLE40 and receptor proteins CLV2 and CRN regulate root meristem differentiation through two distinct, antagonistic pathways activated by CLE40 in a dose-dependent manner.
5 citations
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May 2020 in “Life science alliance” This study found that epidermal-specific deletion of integrin α3β1 significantly reduces papilloma formation in a skin carcinogenesis model by modulating HB stem cell behavior and CCN2 expression.
9 citations
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April 1999 in “Mammalian Genome” This study reports that the acidic and basic keratin gene clusters in dogs are located on chromosomes CFA9 and CFA27, respectively, similar to genetic arrangements in humans and mice.
3 citations
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September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
22 citations
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April 2023 in “The Journal of Cell Biology” In this study, researchers found that coordinated intercellular Ca2+ signaling among basal stem cells in mice is crucial for cell cycle progression and tissue-wide communication during epidermal regeneration.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
4 citations
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October 2018 in “Asia-Pacific Journal of Clinical Oncology” This review discusses the use of CDK4/6 inhibitors with endocrine therapy in treating women with HR+ HER2- advanced breast cancer, but it reports no new clinical findings.
2 citations
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December 2018 in “Journal of cosmetic dermatology” This study observed a significant increase in cellular retinol-binding protein-1 expression in lesional skin of patients with alopecia areata compared to healthy controls, suggesting its potential role in the disease's pathogenesis.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
8 citations
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July 2024 in “Journal of Advanced Research” In this study, researchers report that CDK inhibitors like palbociclib and ribociclib, initially developed for cancer therapy, show potential in treating neutrophilic inflammation-related conditions such as ARDS and psoriasis, although their clinical repurposing requires further research on safety and dose adjustments.
18 citations
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December 2016 in “European journal of pharmacology” In this study, 12-Chloracetyl-PPD showed anti-cancer activity by inhibiting cancer cell viability and inducing apoptosis through reactive oxygen species production without harming normal cells.
November 2016 in “The Molecular Biology Society of Japan”
10 citations
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October 2016 in “Monoclonal antibodies in immunodiagnosis and immunotherapy” This study developed rat monoclonal antibodies that specifically detect Pax1/PAX1 protein, which could improve diagnostic protocols for conditions involving deregulated Pax1/PAX1 expression.
27 citations
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October 1998 in “Differentiation” Basonuclin helps identify and track hair follicle development and cycling in mice.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
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.