November 2025 in “Skin Health and Disease” This review identifies 33 genetic syndromes associated with alopecia areata in children, with 67% fully genetically elucidated, and highlights their clinical features, providing insights that may aid in early prediction, diagnosis, and personalized treatments.
This study protocol aims to explore the prevalence of polycystic ovary syndrome among female pediatric patients with spina bifida, focusing on metabolic and phenotypic differences, but reports no new results yet.
September 2024 in “International Journal For Multidisciplinary Research” This study highlights the significant pharmacological potential of Tridax procumbens, a plant with various therapeutic properties such as liver protection, immune modulation, and wound healing, though it notes that more research is needed to identify its active compounds and mechanisms for drug discovery.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study compiled and functionally annotated 489 genes associated with hair disorders, revealing their involvement in diverse biological pathways, including those linked to cancer and cellular signaling.
April 2023 in “Medizinische Genetik” This review discusses the current status of genetic research on male-pattern hair loss and reports no new findings, outlining significant achievements and future challenges in understanding its biology and treatment.
4 citations
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May 2025 in “The Journal of Immunology” This review explores how molecular profiling in atopic dermatitis has led to new therapeutic developments, detailing approved and potential treatments, and discusses similar advances in alopecia areata; it reports no new results.
1 citations
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July 2023 in “Forensic science international. Genetics” In this study, researchers used proteomics to analyze hair samples from diverse ethnic populations, finding that hair protein profiles could potentially distinguish individuals based on ethnicity, sex, and age, offering a new method for human identification in forensic science.
August 2026 in “Frontiers in Medicine” This article argues that esthetic dermatology could benefit from a more biologically informed approach through the integration of advanced biomarkers and imaging technologies, but cautions that many tools are not yet fully validated for clinical use.
8 citations
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January 2022 in “Journal of Experimental Orthopaedics” This scoping review explores devices that mechanically process lipoaspirate for cell-based therapies but finds insufficient evidence to determine their clinical effectiveness due to lack of standardization and data variability.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
5 citations
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September 2016 in “Security science and technology” DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
This study found that integrating machine learning enhances the predictive accuracy of forensic DNA phenotyping from low template DNA, achieving high accuracy for traits like eye color, although challenges remain for admixed populations and complex traits.
This review discusses forensic DNA phenotyping and its potential applications, particularly for human identification in Latin American populations, but notes challenges due to genetic diversity and reports no new results.
July 2022 in “Postepy biochemii” This review discusses the current state of research on genetic markers for predicting human phenotypic traits from DNA samples for forensic purposes and reports no new experimental findings.
8 citations
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December 2022 in “International journal of molecular sciences” This review discusses phenotypic differences in testosterone production between mice and humans with HSD17B3 deficiency and reports no new findings; the authors highlight potential pathways and enzymes involved in testosterone synthesis.
7 citations
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June 2015 in “EMBO Reports” This article discusses how DNA-based phenotyping is used by police to create visual profiles of suspects from crime scene samples, but reports no new research findings.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” This study investigated genetic and phenotypic characteristics of androgen insensitivity syndrome in individuals with a 46,XY karyotype, documenting a range from complete to partial insensitivity.
56 citations
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December 2011 in “Steroids” This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.
5 citations
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May 2017 in “Journal of dermatological science” This study reviewed the genetic and phenotypic aspects of Olmsted syndrome, highlighting pathogenic mutations in TRPV3 and MBTPS2 genes and their association with specific skin manifestations like symmetrical keratoderma and hyperkeratotic plaques.
1 citations
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October 2016 This discussion highlights the genetic and phenotypic variability in inherited hair disorders and emphasizes the importance of accurate diagnosis due to potential systemic manifestations; no new clinical results are reported.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
62 citations
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October 2013 in “Journal of Human Evolution/Journal of human evolution” This review highlights the significance and future potential of forensic DNA phenotyping for predicting human phenotypes from crime scene DNA but reports no new results.
October 2025 in “Communications Medicine” This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.
7 citations
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October 2020 in “INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH” This study found that stress plays a significant role in altering phenotypic features and body composition among PCOS patients, potentially worsening due to the COVID-19 pandemic.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
November 2022 in “Van Sağlık Bilimleri Dergisi” This study found no association between W locus allele variations and phenotypic traits like eye color, head spotting, and fur length in Turkish Van cats, suggesting other genetic factors should be explored.
This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.
92 citations
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December 2016 in “Scientific Reports” This study identified genomic regions and candidate genes that may contribute to phenotypic diversity in coat color, body size, cashmere traits, and high-altitude adaptation in domesticated goat breeds.