148 citations
,
December 2018 in “Journal of autoimmunity” This review discusses genetic and environmental factors contributing to autoimmunity in alopecia areata and reports no new clinical findings, emphasizing the need for further study on its aetiology and pathophysiology.
42 citations
,
January 2018 in “Expert review of precision medicine and drug development” This review discusses the integration of drug repurposing with personalized medicine through off-label prescribing and reports no new results, highlighting the potential for systematic exploration using omics technologies.
36 citations
,
March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
17 citations
,
June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
16 citations
,
September 2018 in “Clinical Biochemistry” This paper discusses the link between polycystic ovarian syndrome (PCOS) and health issues like infertility and cardiovascular diseases, caused by both genetic and environmental factors, but reports no new clinical findings.
14 citations
,
April 2014 in “International Journal of Cosmetic Science” This article discusses the multifactorial etiopathogenesis of acne vulgaris, highlighting the roles of sebum production, keratosis, bacterial development, and inflammatory mediators, but reports no new clinical results.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
2 citations
,
August 2023 in “Die Dermatologie” This review discusses the molecular pathology of progeroid syndromes and reports no new results; the authors emphasize understanding these mechanisms to develop treatments and potentially improve quality of life for affected individuals.
1 citations
,
September 2015 in “Clinics in Dermatology” This article provides a diagnostic guide for clinicians to differentiate between various hair shaft disorders by using a structured question-by-question approach but does not report new clinical findings.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study presents a comprehensive forensic analysis that suggests the original inhabitants of the Americas, today classified as Black Americans, have been systematically reclassified to obscure their genetic heritage and sovereign identity, with evidence showing greater genetic affinity to Paleoamerican specimens than African ancestors.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study presents evidence suggesting that populations now categorized as Black American are the original inhabitants of the Americas, with genetic heritage and identity obscured by historical reclassification to strip sovereign rights.
June 2024 in “Archives of Dermatological Research” In this study, significant upregulation of the genes SFRP2 and PTGDS was found in bald hair follicles of female pattern hair loss patients compared to non-bald follicles, suggesting these genes may be biomarkers and play a role in hair loss for this condition.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This conference abstract summarizes discussions on human genetics and genetic diseases but reports no new research findings.
October 2020 in “Veterinary Dermatology” This review discusses autoimmune blistering diseases across species and highlights new treatment efficacy findings and ongoing trials, but it reports no new clinical results.
78 citations
,
October 2020 in “Experimental Dermatology” This review summarizes 15 years of clinical and experimental research advancements in hidradenitis suppurativa, highlighting its recognition as a uniquely healable inflammatory skin disease but reports no new clinical results.
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.
62 citations
,
March 2008 in “American Journal of Human Genetics” This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.
43 citations
,
April 2017 in “Experimental Dermatology” This review summarizes the genetic studies on female pattern hair loss, highlighting the lack of clearly identified susceptibility loci and suggesting distinct aetiological differences from male pattern hair loss.
41 citations
,
October 2011 in “Clinical and Experimental Dermatology” This meta-analysis suggests that the G allele of AR StuI polymorphism might be a potential risk factor for AGA, particularly in white populations.
29 citations
,
November 2022 in “Nature Medicine” This study identified thousands of variant-metabolite associations in the human plasma metabolome, offering insights into the genetic bases of metabolism and potential adverse drug effects.
22 citations
,
January 2018 in “Experimental Dermatology” This article reviews insights into the pathogenesis of primary cicatricial alopecias, such as lichen planopilaris, provided by emerging technologies, but it does not report new clinical results.
19 citations
,
August 1999 in “European journal of endocrinology” This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.
15 citations
,
December 2017 in “Journal of Investigative Dermatology” This study identified two genome-wide significant genetic associations with seborrheic dermatitis, suggesting a potential genetic susceptibility contributing to the disease's pathogenesis.
10 citations
,
March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
10 citations
,
August 2012 in “Current Problems in Pediatric and Adolescent Health Care” This review explores hair signs related to nutrition disorders, such as thin and dyspigmented hair, without presenting new clinical findings; the authors highlight unknowns regarding underlying causes.
6 citations
,
June 2016 in “Experimental Dermatology” This article reviews the pathogenesis of frontal fibrosing alopecia, highlighting the potential genetic and environmental contributions, particularly the use of sunscreens, and calls for further research into effective treatments.
4 citations
,
June 2025 in “Frontiers in Immunology” This study found an association between atopic dermatitis and autoimmune diseases in both adults and children, with women more likely to experience these complications, but further research is needed due to limited participant numbers.
4 citations
,
January 2019 in “Dermatologic Therapy” This review explores the clinical characteristics, risk factors, and treatment challenges of scalp basal cell carcinoma, noting its potential aggressiveness and difficulty in treatment, but reports no new clinical results.
4 citations
,
September 2010 in “Journal of Dermatological Science” This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.