April 2024 in “American Journal of Biological Anthropology” This study suggests moving away from using rigid racial categorizations and outdated typologies in favor of analyzing detailed trait patterns, providing a foundation for future research on human variation and hair traits in relation to population affinity.
7 citations
,
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.
5 citations
,
January 1998 in “Clinical and experimental dermatology” This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.
79 citations
,
March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
57 citations
,
July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
23 citations
,
January 2015 in “Journal of The American Academy of Dermatology” This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.
27 citations
,
March 2022 in “Forensic Toxicology” This review discusses micro-segmental hair analysis for forensic toxicology, emphasizing its potential to provide detailed drug distribution profiles and its application in investigations, while noting the method's limitations and future perspectives.
14 citations
,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
6 citations
,
May 2003 in “PubMed” This study found that DNA is present at low levels in human hair shafts, with higher amounts near the root, and that its levels decrease after surfactant washing and colorant treatments.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
18 citations
,
November 2016 in “Neuromuscular Disorders” This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.
3 citations
,
September 2022 in “Animal biotechnology” This study found that knocking down lncRNA MTC in Liaoning Cashmere goat skin fibroblasts inhibited cell proliferation and increased apoptosis, suggesting its role in facilitating cell growth by regulating specific proteins.
42 citations
,
February 2019 in “Circulation” This study observed that DNA damage response (DDR) plays a key role in pressure overload-induced cardiomyocyte hypertrophy, with disruption of the ATM kinase pathway potentially modulating this hypertrophy in mice.
December 2023 in “The journal of cell biology/The Journal of cell biology” This study developed the mTurquoise2-Col4a1 mouse model and used fluorescent tagging of collagen IV to offer new insights into basement membrane dynamics during hair follicle budding, revealing that basement membranes are flexible and stable structures in developing skin tissue.
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.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.
8 citations
,
June 1981 in “Clinica Chimica Acta” 20 citations
,
March 2021 in “Cancers” This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
86 citations
,
November 2015 in “Journal of Gastroenterology” This study reported that the NUDT15 R139C genetic variant was significantly associated with thiopurine-induced leukocytopenia in Japanese inflammatory bowel disease patients, independent of 6-thioguanine nucleotide levels.
1 citations
,
March 2004 in “Journal of the American Academy of Dermatology” This study reports a strong association between the MICA locus, specifically the MICA∗3-DR∗6-DQ6 haplotype, and Alopecia Areata in families.
5 citations
,
June 2008 in “British Journal of Dermatology” June 2021 in “The American Journal of the Medical Sciences” This study found that patients with androgenetic alopecia had higher serum homocysteine levels, linked to the mutant MTHFR genotype, and an increased risk of coronary heart disease.
9 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies novel subpopulations of human epidermal melanocytes and specific transcriptional programs that differ from model organisms, providing insights into melanoma dedifferentiation.
5 citations
,
September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
10 citations
,
January 1997 in “Dermatology” This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.
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.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.