99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
January 2016 in “프로그램북(구 초록집)” The revised BASP classification for hair loss is less accurate and harder to use but could still be a viable option.
51 citations
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December 2006 in “Mammalian Genome” 4 citations
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November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
1 citations
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April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Topical patidegib gel effectively treats basal cell carcinoma in Gorlin syndrome patients without causing the side effects seen with oral treatments.
1 citations
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November 2002 in “Journal of dermatology” The antibody created from BCC tissues reacts similarly to both BCC and hair follicles, suggesting BCC may come from hair follicle cells.
9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
39 citations
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July 2008 in “Dermatologic Therapy” Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.
14 citations
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June 2021 in “British Journal of Dermatology” The BIOMAP glossary standardizes data to improve research on atopic dermatitis and psoriasis.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
January 2026 in “Animals” TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
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.
2 citations
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July 2023 in “International Journal of Molecular Sciences” BFNB could be a promising treatment for hair growth.
250 citations
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November 2003 in “The Journal of Cell Biology” BMP receptor IA is essential for proper hair cell differentiation in mice.
November 2025 in “The Journal of Immunology” BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
46 citations
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November 2022 in “The Journal of Dermatology” Bullous pemphigoid is influenced by genetic factors, immune cell dysfunction, aging, and triggers, with treatment often improving symptoms.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
2 citations
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October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” Different PADI isoforms help cells develop diverse functions.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
July 2024 in “New Phytologist” PDF2 senses specific lipids and regulates root growth and gene expression in Arabidopsis.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
50 citations
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
2 citations
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February 2004 in “Biopolymers” 4-(4-Phenoxybenzoyl)benzoic acid derivatives can both increase and decrease certain types of reactive oxygen species, and may be relevant to hair loss.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.