June 2025 in “Albus Scientia” This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.
13 citations
,
October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
September 2024 in “Egyptian Journal of Medical Human Genetics” This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.
65 citations
,
September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
February 2024 in “Cureus” This study presented an elderly male with a nodular lesion diagnosed as pilomatricoma and discussed the value of diagnostic tools like dermoscopy and high-frequency ultrasonography, encouraging clinicians to consider pilomatricoma in differential diagnoses of nodular lesions across all ages.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
10 citations
,
February 2022 in “Cancers” This review discusses managing prostate cancer in patients with high-risk germline mutations and highlights the need for more research and consensus guidelines, reporting no new clinical results.
38 citations
,
January 2020 in “Cell Transplantation” This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.
January 2013 in “Kidney international” This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
August 2025 in “Dermatopathology” This study identified 96 cases of pilomatricomas linked to genetic syndromes, including a novel association with Apert syndrome, highlighting that these tumors often manifest as the first indication of underlying conditions in pediatric patients.
1 citations
,
November 2021 in “Biomedicines” This review elaborates on the concept of cutaneous mosaicism and its link to acneiform conditions, but it reports no new clinical results.
18 citations
,
January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
3 citations
,
May 2023 in “Frontiers in immunology” This study reviewed the role of inflammasomes in autoimmune skin diseases, highlighting their contribution to the pathogenesis of conditions such as vitiligo, alopecia areata, and psoriasis, and suggesting that targeting inflammasome dysregulation may offer new therapeutic options.
80 citations
,
April 2018 in “Trends in Molecular Medicine” This review discusses the roles of interferon-γ and PPAR-γ-mediated signalling in scarring alopecia, suggesting these pathways as potential therapeutic targets, but it reports no new empirical results.
research Acne
2 citations
,
May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
January 2019 in “Springer eBooks” Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
26 citations
,
October 2017 in “Scientific reports” This study found that a bacterial endophyte from Zea nicaraguensis effectively targets and colonizes plant root hair cells, promoting growth and solubilizing insoluble phosphorus for nutrient uptake.
2 citations
,
November 2019 in “Cancer reports” This study concluded that the Wnt signaling pathway does not significantly influence human keratoacanthoma development, but the overexpression of Sox9 suggests alternate signaling involvement.
January 2024 in “Asthma Allergy Immunology” This review examines the role of innate lymphoid cells in allergic diseases and the influence of an allergic microenvironment on their plasticity, without reporting new clinical outcomes.
June 2025 in “Journal of Endocrinological Investigation” This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
68 citations
,
May 2016 in “Experimental dermatology” This review discusses what is known about the pathobiology of frontal fibrosing alopecia and reports no new clinical findings, highlighting potential environmental and genetic factors in disease pathogenesis.
May 2018 in “White Rose eTheses Online (University of Leeds, The University of Sheffield, University of York)” In this study, researchers found that alopecia areata patients show a significant reduction in suppressive regulatory T-cells and an increase in inflammatory T-cell populations, suggesting an immunological imbalance contributing to the disease.
99 citations
,
December 2010 in “Journal of The European Academy of Dermatology and Venereology” This article discusses the association of acne with various systemic diseases, emphasizing the role of androgen steroids, insulin resistance, and inflammation in acne pathogenesis, but it reports no new clinical results.
16 citations
,
September 2020 in “British journal of dermatology/British journal of dermatology, Supplement” This review explores the role of neutrophil recruitment in the inflammation seen in hidradenitis suppurativa and emphasizes potential therapeutic targets within these pathways, but it reports no new clinical results.
71 citations
,
November 2013 in “Clinics in Dermatology” This review discusses the chronic nature of acne and its association with various systemic diseases, but reports no new clinical findings, highlighting the need for further study on its nutritional or genetic links.