11 citations
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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.
1 citations
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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.
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.
January 2023 in “Türkiye klinikleri adli tıp ve adli bilimler dergisi” This review discusses forensic DNA phenotyping, focusing on male pattern baldness and its prediction through SNP markers, but reports no new results.
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
22 citations
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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.
April 2023 in “Journal of Investigative Dermatology” This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
June 2004 in “Annales de Dermatologie et de Vénéréologie” 89 citations
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April 2023 in “Forensic Science International Genetics” This review summarizes advancements in forensic DNA phenotyping for appearance, ancestry, and age prediction from crime scene samples, reporting no new research findings but highlighting areas needing further research and validation.
21 citations
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March 2023 in “Journal of Crohn s and Colitis” This study suggests that microvascular damage and platelet deregulation may persist in ulcerative colitis patients even during remission, remaining as disease-associated molecular signatures.
9 citations
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October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
4 citations
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March 2024 in “Forensic Sciences Research” This review found that current forensic DNA phenotyping panels for biogeographical ancestry and visible traits face significant limitations due to inconsistencies in terminology, genetic understanding, and genotyping technologies, highlighting the need for harmonization and further research.
3 citations
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January 2021 in “Journal of The American Academy of Dermatology” This study observed that atopic dermatitis severity was associated with higher eosinophil counts and FLG variants, suggesting distinct endotypes that may require tailored treatment approaches.
2 citations
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March 2023 in “Research Square (Research Square)” This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.
1 citations
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May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that ulcerative colitis is associated with diverse molecular changes and chronic inflammation, with some biomarker levels partially recovering during remission.
March 2026 in “Egyptian Journal of Forensic Sciences” This review critically examines Forensic DNA Phenotyping, highlighting high accuracy in predicting certain traits but also legal and ethical challenges, particularly around regulatory fragmentation and issues of genetic privacy.
January 2026 in “Animal Advances” In this study of four Chinese goat breeds, black goats exhibited significantly higher melanin content, while Inner Mongolian cashmere goats had longer fiber lengths. These findings highlight genetic variations in coat color and fiber length, informing future breeding programs.
July 2025 in “Indian Journal of Forensic Medicine & Toxicology” This review highlights how the development of forensic DNA phenotyping systems like IrisPlex, HIrisPlex, and HIrisPlex-S has advanced criminal investigation by accurately predicting physical traits such as eye, hair, and skin color from DNA, thereby improving the precision and relevance of forensic applications.
August 2024 in “Clinical & experimental pathology” This research highlights significant advancements in forensic DNA phenotyping, enabling predictions of physical traits, ancestry, and age from crime scene DNA, but notes that further research and validation are needed for greater accuracy and reliability.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This study highlights the potential of forensic DNA phenotyping using Next Generation Sequencing to predict eye, hair, and skin color, aiding criminal investigations, though adoption faces challenges due to incomplete genetic understanding and ethical, social, and legal concerns.
May 2023 in “GSC biological and pharmaceutical sciences” According to this study, forensic DNA phenotyping using Next Generation Sequencing can reliably predict certain visible traits like eye, hair, and skin color, though its routine implementation in forensics is hindered by incomplete genetic knowledge and ethical concerns in some countries.
December 2022 in “IntechOpen eBooks” This paper discusses forensic DNA phenotyping, emphasizing its ability to infer visible traits from biological samples without reference samples, but notes ethical and legal concerns related to its use.
April 2019 in “Journal of Investigative Dermatology” This study found that lichen planopilaris is associated with three core molecular pathways, which may inform new therapeutic strategies for scarring alopecia, including unique pathways like ABC transporters specific to LPP.
767 citations
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September 2016 in “Human Reproduction” This review analyzes the reported prevalence of polycystic ovary syndrome (PCOS) based on different diagnostic criteria but does not provide new clinical results.
54 citations
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November 1995 in “The Journal of Clinical Endocrinology & Metabolism” In this study, females with 5 alpha-reductase-2 deficiency exhibited decreased body hair, normal sebum production, and delayed menarche, suggesting a role for DHT in hair growth and menstrual function.
27 citations
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June 2015 in “Journal of Investigative Dermatology” This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.
16 citations
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February 2016 in “Gynecological Endocrinology” This study observed two distinct phenotypes among North Indian women with PCOS: obese hyperinsulinaemic dysglycemic women from Delhi and lean hyperandrogenic women from Srinagar, despite being in the same region.
12 citations
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July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” This study observed phenotypic diversity in hair loss among Japanese individuals homozygous for the LIPH c.736T>A mutation and suggests that differences in hair thickness may contribute to varying severities.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.