2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
March 2023 in “MDPI eBooks” November 2024 in “Journal of Investigative Dermatology” The research aims to better understand hair follicle regulation and find new treatments for hair loss.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
November 2022 in “Journal of Investigative Dermatology” A new tool helps study hair follicle cells to develop better treatments for hair disorders.
August 2024 in “Clinical & experimental pathology” Forensic DNA phenotyping can now predict more physical traits and ancestry from DNA, but further improvements are needed.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The article concludes that creating a detailed map of normal human skin at the single-cell level is important.
64 citations
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October 2018 in “Thérapie” Enriching the French health care database with external data greatly improved its usefulness.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
August 2018 in “Zenodo (CERN European Organization for Nuclear Research)” New techniques can record electromagnetic fields in hair follicles for potential medical use.
April 2023 in “Journal of Investigative Dermatology” A new pain-measuring system using sensors and AI can effectively detect pain in mice, which may help assess pain in humans and develop treatments.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
22 citations
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July 2016 in “PLoS ONE” Certain miRNAs and genes influence wave patterns in Hu sheep hair follicles.
16 citations
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February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
13 citations
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June 2014 in “Molecular therapy” The lentiviral array can monitor and predict gene activity during stem cell differentiation.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Hedgehog signaling controls hair follicle development and can affect skin cancer growth.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
September 2017 in “Journal of Investigative Dermatology” QMSI effectively maps and quantifies drug distribution in skin tissues.
March 2025 in “medRxiv (Cold Spring Harbor Laboratory)” Hair proteomics could be a promising non-invasive way to identify stress-related disorders.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
28 citations
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June 2003 in “Applied immunohistochemistry & molecular morphology” Combining cell conditioning with mild protease digestion effectively shows versican mRNA in mouse skin sections.
December 2023 in “Forensic science international. Genetics” The RapidHIT ID system can effectively get DNA profiles from hair roots with enough cells.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
August 2023 in “Journal of Investigative Dermatology” Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
iEdgePathDDA effectively finds new drug-disease links, outperforming other methods.
15 citations
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January 1987 in “Electrophoresis” Human head hair proteins can be typed into eight distinct patterns, useful for genetic and forensic investigations.