19 citations
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November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
January 2016 in “Memorial University Research Repository (Memorial University)” Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
27 citations
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January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
December 2022 in “IntechOpen eBooks” Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
58 citations
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November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
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.
November 2022 in “Journal of Investigative Dermatology” A new tool helps study hair follicle cells to develop better treatments for hair disorders.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists created a detailed map of gene activity in different parts of human hair follicles.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
10 citations
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January 1989 in “Archives of Dermatological Research” The method effectively analyzes human hair proteins, especially nonfilamentous ones.
13 citations
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March 2019 in “PLoS ONE” A new method improves protein analysis in hair, aiding health and disease research.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Hedgehog signaling controls hair follicle development and can affect skin cancer growth.
85 citations
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June 2015 in “Scientific Reports” The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
A 5 cm hair sample can reveal blood type and keratin type for forensic use.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
34 citations
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March 2009 in “Journal of Investigative Dermatology” Proteomic analysis can identify genetic differences in mouse hair, helping understand hair defects and variations.
1 citations
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June 2025 in “Frontiers in Genetics” Key genes IRF2BP2 and EGFR are linked to Hetian sheep's double-coat fleece.
3 citations
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August 2022 in “Biochemical Genetics” 47 citations
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July 2023 in “Nature Genetics”
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
11 citations
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February 2019 in “Research and reports in forensic medical science” DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
33 citations
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October 1996 in “Journal of Investigative Dermatology”
9 citations
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August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
February 2024 in “New phytologist” DNA changes in tetraploid wheat improve root growth and nitrogen use.
1 citations
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January 1986 in “Journal of Steroid Biochemistry” Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
73 citations
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April 2006 in “BioTechniques” Protein microarrays are highly sensitive tools useful for disease diagnosis and studying proteins.