77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study suggests that changes in immune system receptors and their interaction with a cell component may be important in the development of a type of hair loss condition.
34 citations
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April 2018 in “EMBO journal” The protein SLC1A3 is important for activating skin stem cells and is necessary for normal hair and skin growth in mice.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” Certain genetic variants in PRLR and PCCA genes may lead to shorter hair in cattle, which could help with heat tolerance.
May 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
4 citations
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December 2013 in “British Journal of Dermatology” ESR2 gene linked to female-pattern hair loss.
6 citations
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January 2020 in “International journal of biological sciences” Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
January 2004 in “Kölner Universitäts PublikationsServer (Universität zu Köln)” Collagen XVII and CD151 affect cell movement, with CD151 inhibiting migration when bound to integrins.
1 citations
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May 2021 in “Clinical Nuclear Medicine” Platelet-rich plasma therapy can increase FDG uptake in the scalp.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
A new compound from Royoporus badius activates immune cells and induces inflammatory responses.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
3 citations
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April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
July 2025 in “Journal of Investigative Dermatology” Machine learning can help identify biomarkers for personalized Pemphigus vulgaris treatment.
11 citations
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May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
14 citations
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July 2021 in “Bioinformatics” rPanglaoDB helps study rare cell types by merging RNA data, showing fibrocytes aid in healing.
2 citations
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May 2019 in “Small ruminant research” Mutations in specific llama genes may affect fiber quality for textiles.
April 2023 in “Journal of clinical and translational science”
5 citations
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May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Platelet-rich Plasma Gel may help treat en coup de sabre scleroderma, improving symptoms and skin quality with minimal side effects.
November 2025 in “The Journal of Immunology” The S1PR 1&4 modulator may effectively treat alopecia areata by reducing hair loss and immune cell activity.
84 citations
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December 2018 in “Genetics in Medicine” Pegvaliase is recommended for treating adults with phenylketonuria.
Compound 6 is a promising candidate for better wound healing.
2 citations
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September 2021 in “F1000Research” The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.