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.
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
75 citations
,
October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
19 citations
,
June 2020 in “BMC Cancer” This study reported that genetic changes in trichilemmal carcinoma resemble those in other skin cancers, with TP53 mutations associated with aggressive clinical outcomes.
May 2020 in “Research Square (Research Square)” This study found that trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting a similar pathogenesis, particularly in those with aggressive clinical courses linked to TP53 mutations.
April 2020 in “Research Square (Research Square)” This study reported genetic mutations in trichilemmal carcinoma similar to those found in other skin cancers, including TP53 mutations associated with aggressive disease.
98 citations
,
June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
11 citations
,
December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin pigmentation alterations in a mouse model of Carney complex may be caused by specific dermal fibroblasts promoting melanogenic signaling.
March 2026 in “Dermatopathology” This study found that sebaceous gland-derived cutaneous adnexal carcinomas exhibited the highest frequency of genomic alterations compared to other tumor types.
39 citations
,
July 2000 in “British Journal of Dermatology” This report on identical female twins with folliculitis decalvans suggests a possible genetic component to the disease, marking the first such case in twins.
10 citations
,
July 2022 in “Dermatology and Therapy” This review discusses the pathogenesis of melasma, including genetic, environmental, and hormonal factors, and highlights potential avenues for new treatments and preventive strategies, but reports no new experimental findings.
1 citations
,
June 2016 in “Medicina” This article reviews monilethrix, a rare genetic hair disorder causing brittle hair and alopecia, and emphasizes the need for clinical diagnosis and characteristic tricoscopic findings.
34 citations
,
October 2011 in “Pathology Research International” This article reviews potential factors influencing Behçet's disease, like increased neutrophil functions, immunological changes, stress, and hormonal alterations, but it presents no new clinical results.
79 citations
,
November 2016 in “EMBO Reports” This review evaluates methods to study stem cell division patterns, particularly in the mammary gland, and discusses genetic factors affecting division modalities and their implications for breast cancer, but reports no new results.
122 citations
,
June 2002 in “Genes & Development” This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.
November 1997 in “Open Archive (Karolinska Institutet)” This research observed that mutations in the PTCH gene are common in both sporadic and hereditary basal cell cancers, suggesting a critical role of the PTCH signaling pathway in skin tumor development.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.
142 citations
,
January 2019 in “Frontiers in Neuroendocrinology” This review summarizes proposed pathophysiological mechanisms of postpartum depression, highlighting neuroendocrine and neurobiological changes, but reports no new findings and calls for integrated understanding of the disorder.
47 citations
,
March 2022 in “Frontiers in cellular and infection microbiology” This review discusses the role of the skin microbiome in the pathogenesis of various skin disorders, such as atopic dermatitis and psoriasis, and reports no new clinical findings; it emphasizes potential therapeutic implications.
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.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” This study observed that FOXA1 and CCL2 gene expression levels were significantly elevated in women with different PCOS phenotypes compared to healthy controls, indicating phenotype-specific molecular variations which could inform personalized treatment strategies for infertility in PCOS.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
20 citations
,
January 2015 in “Current problems in dermatology” This article discusses the aging-related changes in hair structure and function, and examines various treatments like light therapy, minoxidil, and finasteride aimed at mitigating hair thinning and loss, but reports no new clinical results.
18 citations
,
July 2019 in “Clinical Endocrinology” The researchers reported that among Mediterranean Sicilian women with PCOS, Phenotype B exhibited the most severe metabolic abnormalities, notably obesity and altered glucose metabolism, whereas Phenotype D showed no such issues.
13 citations
,
March 2019 in “Medicina Clínica (english Edition)” This paper reviews the complexities of diagnosing and managing polycystic ovary syndrome, emphasizing the importance of individualized treatment to address symptoms due to hyperandrogenism, ovarian dysfunction, and metabolic issues, but reports no new results.
3 citations
,
March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” This study in hairless rats suggests that the deletion of specific hair keratin genes contributes to hypotrichosis and highlights the strain's potential as a model for hair follicle research.