48 citations
,
May 2019 in “Genome Biology” This study identified genetic, biological, and technical factors that influence circRNA expression in the human brain, connecting these factors to potential genetic risk for diseases like schizophrenia and type II diabetes.
29 citations
,
October 2020 in “eLife” This study using Mendelian randomization in UK Biobank data suggests that lifelong increased free testosterone may have mixed effects, including increased bone density and prostate cancer risk, warranting well-powered trials to address uncertainties.
24 citations
,
March 2021 in “Frontiers in Cell and Developmental Biology” This study found that Wnt signaling, crucial for lung development, may be disrupted in severe asthma, potentially affecting cell proliferation and senescence through complex mechanisms.
10 citations
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January 2012 in “Journal of Oncology” This paper explores the relationship between the dermal extracellular matrix and cutaneous malignant melanoma, suggesting that ECM involvement may play a key role in the cancer's growth, invasiveness, and initial metastasis.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
7 citations
,
January 2021 in “Frontiers in genetics” This study suggests an association between DNA methylation changes in hair follicles and inherited color dilution in Rex rabbits, contributing to a deeper understanding of epigenetic influences on rabbit pigmentation.
5 citations
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May 2022 in “Clinical & Experimental Metastasis” This study found that minoxidil and ranolazine, individually and in combination, reduced cellular invasiveness in hypoxic triple-negative breast cancer cell lines, suggesting potential anti-metastatic effects at clinically relevant doses.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
5 citations
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November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that inhibiting Wnt/β-catenin signaling disrupted hemidesmosome organization in keratinocytes, suggesting potential therapeutic targets for HD-defective diseases like epidermolysis bullosa.
5 citations
,
December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
5 citations
,
December 2011 in “Springer eBooks”
2 citations
,
July 2022 in “Frontiers in Medicine” This review discusses the current understanding of frontal fibrosing alopecia's pathogenesis, highlighting genetic susceptibility, immune response involvement, and possible links to steroid hormones, but reports no new clinical results.
2 citations
,
April 2022 in “Genes” This study identifies a polygenic basis for atypical recurrent flank alopecia in Cesky Fousek dogs through genome-wide association analysis and gene expression profiling, highlighting several metabolic pathways involved in the condition.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
1 citations
,
December 2024 in “Methods in molecular biology” This study described a method using sodium dodecanoate and high levels of reductant to process hair shaft proteomes, allowing analysis of genetic, developmental, and forensic information beneficial to various scientific fields.
1 citations
,
April 2024 in “Science Advances” In this study, researchers found that the female plumage color variations in the common cuckoo are linked to the female-restricted genome and suggest this pattern is maintained by balancing selection, sharing ancestry with the oriental cuckoo.
March 2026 in “Preprints.org” This study investigated the secretome of adipose mesenchymal stem cells and fibroblasts used in skin care products, finding 16 therapeutic pathways involving numerous signaling mechanisms, which may offer skin benefits through anti-inflammatory and regenerative effects.
This review discusses forensic DNA phenotyping and its potential applications, particularly for human identification in Latin American populations, but notes challenges due to genetic diversity and reports no new results.
October 2025 in “Frontiers in Artificial Intelligence” This study evaluated a novel, user-friendly approach for detecting hairfall trends over time using machine learning models. The Temporal Fusion Transformer model demonstrated high accuracy in identifying anomalies in hair shedding patterns, potentially aiding in the early detection of health risks related to hormonal fluctuations.
May 2025 in “Clinical Medicine Insights Case Reports” This case study reported on a 6-year-old boy with Kindler Syndrome born to consanguineous parents, featuring atypical symptoms like hyperpigmented macules and glucose intolerance, contributing to expanding insights into the condition's phenotypic diversity.
May 2025 in “International Journal of Trichology” In this report, four cases of noncicatricial alopecia developed following a single session of dutasteride mesotherapy in patients with androgenetic alopecia, highlighting potential adverse effects and the need for careful monitoring of the drug's composition.
March 2024 in “EMBO molecular medicine” This study found that the antiviral drug daclatasvir significantly improved fibrosis and quality of life in a mouse model of recessive dystrophic epidermolysis bullosa, suggesting potential for treating this and other fibrotic diseases.
July 2023 in “Journal of Biomedical Science” In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.
March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
April 2023 in “Medizinische Genetik” This review discusses the current status of genetic research on male-pattern hair loss and reports no new findings, outlining significant achievements and future challenges in understanding its biology and treatment.
99 citations
,
May 2013 in “Familial cancer” This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
11 citations
,
October 2022 in “Clinical Cosmetic and Investigational Dermatology” In this study, SNPs in genes affecting skin pigmentation were linked to each skin type's unique response to environmental stress, suggesting potential for personalized skin care products.
3 citations
,
May 2025 in “Journal of Ovarian Research” This review discusses the recent progress in understanding the role of m6A modifications in the development of polycystic ovary syndrome and reports no new clinical findings.
2 citations
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December 2022 in “International journal of molecular sciences” This study compared RNA-seq results from horse plucked-hair and skin-biopsy samples, finding that plucked hairs were enriched with hair-follicle keratinocytes, while biopsies showed enrichment for other cell types.