87 citations
,
May 2012 in “PLOS Genetics” This study found that early-onset androgenetic alopecia in individuals of European ancestry is significantly associated with increased odds of Parkinson's disease and is influenced by specific genetic loci, including some linked to reduced fertility.
67 citations
,
November 2019 in “Nature Communications” This study demonstrated that a c-Kit-CreER-driven mouse model confirms melanocyte stem cells as a genuine source of melanoma, paralleling human melanoma in heterogeneity and gene signatures.
58 citations
,
June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
6 citations
,
January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
4 citations
,
January 2021 in “Journal of Clinical Medical Research” This review provides an in-depth analysis of the structure and function of c-kit activation, and its role in both normal physiological and pathological conditions, with no new research findings reported.
1 citations
,
January 2024 in “Wiadomości Lekarskie” This study evaluated a new computer-aided detection system for identifying Breast Arterial Calcification in mammograms, achieving 70% accuracy, but highlighted the need for a larger dataset to explore its relationship with cardiovascular diseases.
64 citations
,
March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
60 citations
,
November 2013 in “Development” This study found that the creation of hair follicle lumens in mice is driven by the outward migration of keratin 79-positive cells, suggesting a novel mechanism for generating hollow cores in hair follicles.
51 citations
,
January 2007 in “Animal Genetics” This study identified the location of the genetic locus for the slick hair coat trait in cattle on bovine chromosome 20, which may contribute to heat tolerance.
42 citations
,
January 2019 in “Frontiers in Immunology” This study identified diltiazem, a calcium channel blocker for hypertension, as a promising repurposed treatment for influenza, enhancing antiviral efficacy when combined with oseltamivir.
10 citations
,
January 2010 in “Veterinary pathology” This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.
April 2017 in “Journal of Investigative Dermatology” This study identified altered neurological pathways and potential drug targets involved in androgenetic alopecia, suggesting areas for future research and possible therapies.
86 citations
,
February 2003 in “Journal of The American Academy of Dermatology” This article discusses various mechanisms for promoting hair growth in pattern hair loss and highlights the challenge of balancing short-term measurable results in trials with the need for long-term efficacy data.
9 citations
,
September 2016 in “Plastic and reconstructive surgery. Global open” In this study, a curved nonrotary punch was found to achieve the lowest follicular unit transection rates of less than 5% compared to conventional rotary punches in hair transplantation for patients with tightly curled Afro-textured hair.
78 citations
,
August 2012 in “Human molecular genetics online/Human molecular genetics” This study found that three genetic loci, including the newly identified JMJD1C, are associated with circulating testosterone and dihydrotestosterone levels, explaining a small portion of their variance in European men.
72 citations
,
January 2011 in “Current Pharmaceutical Design” This review discusses the potential role of steroid 5α-reductase inhibitors in treating neuropsychiatric disorders related to dopaminergic hyperreactivity but reports no new clinical results.
36 citations
,
October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
33 citations
,
September 2017 in “Journal of clinical immunology” This review summarizes recent findings on FOXN1's essential role in thymus and skin biology and discusses emerging therapeutic approaches for immune disorders with athymia, but reports no new clinical results.
29 citations
,
March 2023 in “European Journal of Human Genetics” This study identified four new genetic loci associated with acne risk and highlighted key pathways involved in its genetic predisposition, potentially explaining 9.4% of acne's phenotypic variance.
1 citations
,
May 2006 in “Expert Opinion on Therapeutic Patents” This review summarizes 19 patents filed since 2000 for treating or preventing chemotherapy-induced alopecia, but reports no new clinical findings.
November 2022 in “Gigascience” This study identified a 582-bp deletion upstream of LHX2 in cashmere goats, likely linked to hair follicle development and cashmere production, providing insights into genetic factors in cashmere trait selection.
106 citations
,
March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
82 citations
,
March 2016 in “Autoimmunity reviews” This review explores animal models of alopecia areata, particularly focusing on the insights they've provided into the disease's immune mechanisms and potential treatment approaches, without reporting new experimental data.
13 citations
,
March 2017 in “Genomics” This study reported that pathways related to apoptosis, cell proliferation, and WNT signaling might be key drivers of hair loss in androgenetic alopecia, guiding potential targets for therapy development.
11 citations
,
May 2021 in “Journal of Medical Virology” This review discusses sex differences in immune response to respiratory viral infections, including SARS-CoV-2, and highlights that hormones like estrogen may provide females with better protection, but it reports no new results.
4 citations
,
May 2020 in “Cureus” This case report describes an adult male from India with Werner's syndrome due to a novel homozygous mutation in the WRN gene, characterized by several premature aging symptoms.