22 citations
,
September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
16 citations
,
April 2018 in “Animal Genetics” This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.
13 citations
,
June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
13 citations
,
August 2024 in “iScience” This study found that 3D spheroid culture reprogrammed mesenchymal stem cells into a uniform immunosuppressive phenotype, suggesting potential therapeutic applications for inflammatory diseases like psoriasis.
11 citations
,
February 2019 in “Research and reports in forensic medical science” This article discusses the use of forensic DNA phenotyping to infer physical characteristics from biological samples without a reference sample, aiding investigations but raising ethical and legal concerns.
7 citations
,
August 2019 in “Endokrynologia Polska” This study reported that women with metabolic PCOS phenotype have free androgen index values approximately twice as high as those with the reproductive phenotype.
7 citations
,
March 1993 in “International Journal of Oncology” This study found that the keratin expression in basal cell carcinoma resembles that of the pilosebaceous apparatus, with uniform presence of certain keratins in all cases.
5 citations
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October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
5 citations
,
August 1983 in “PubMed” This study found that isozyme profiles in polyoma virus-induced tumors were consistent and distinctive for each tumor type, except for salivary and mammary tumors which shared a profile.
3 citations
,
March 2024 in “Journal of Dermatological Treatment” Baricitinib can lead to hair regrowth in alopecia areata but may also cause relapses.
2 citations
,
September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
1 citations
,
May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
1 citations
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September 2025 in “Frontiers in Immunology” In this study, researchers using a Treg-specific HuR-deficient mouse model found that the RNA-binding protein HuR is crucial for stabilizing Foxp3 mRNA, affecting Treg function and immune regulation, with HuR disruption leading to impaired Foxp3 expression and potential autoimmune dysfunction.
1 citations
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October 2024 in “BMC Infectious Diseases” This study found that post-COVID-19 syndrome incidence varied significantly by gender and identified ALP levels as a potential biomarker for its detection, challenging current diagnostic criteria.
August 2026 in “Journal of Genome Biotechnology and Genetics” This review found that while forensic DNA phenotyping and health applications for pigmentation genetics show potential, factors like phenotype definition and population diversity present challenges to accurate genotype-to-appearance predictions.
June 2026 in “EP Europace” This study found that minoxidil and finasteride, commonly used for androgenetic alopecia, were associated with different arrhythmia profiles in adverse event reports: minoxidil predominantly with supraventricular arrhythmias and finasteride primarily with ventricular arrhythmias in men.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
June 2025 in “Molecular Genetics & Genomic Medicine” This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.
January 1990 in “Advances in forensic haemogenetics” This study used one-dimensional SDS electrophoresis to examine low sulfur proteins in hair samples from multiple generations within five families, but does not report new results.
86 citations
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October 2005 in “Experimental Dermatology” This review explores the role of Foxn1 in mammalian skin biology, discussing its influence on hair follicle function and the potential for further research to enhance understanding of epithelial differentiation.
86 citations
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June 1998 in “Journal of Investigative Dermatology” This study found that mutations in the hairless gene in mice disrupt hair follicle integrity during catagen, leading to baldness due to disintegrating epithelial structures and loss of normal dermal papilla.
54 citations
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May 2001 in “Journal of Investigative Dermatology” This study suggests that increased putrescine levels may disrupt normal hair follicle development in transgenic mice, leading to hair loss and altered skin structure, yet these mice appear more resistant to skin tumorigenesis.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
23 citations
,
March 2017 in “JAAD case reports” This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.
15 citations
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February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
9 citations
,
March 1998 in “Journal of Dermatological Science” Improper regulation of hair follicle processes causes hairlessness.
2 citations
,
October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that darker hair is typical in wetter regions for the Indriidae family, while within Propithecus, dark black hair is common in colder forests, suggesting evolutionary adaptations to environmental pressures.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.