127 citations
,
April 1999 in “Journal of Investigative Dermatology” Rodent models helped understand psoriasis but none perfectly replicated 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.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
June 2025 in “International Journal of Nephrology and Renovascular Disease” PLA2R1 overexpression harms kidney cells by stopping their growth cycle.
66 citations
,
January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
4 citations
,
October 2024 in “Experimental Dermatology” CD8A and FOXD2-AS1 may be key for diagnosing and treating alopecia areata.
April 2012 in “Encyclopedia of Life Sciences” Different genes are linked to various types of hair loss.
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
9 citations
,
November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
26 citations
,
August 2019 in “Stem Cell Research & Therapy” PBX1 helps hair stem cells grow and change by turning on certain cell signals and preventing cell death, which may be useful for hair regrowth treatments.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
2 citations
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October 2012 in “Experimental Dermatology” Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
11 citations
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
18 citations
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October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
35 citations
,
March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” SRD5A2 gene variations affect PTSD symptoms differently in males and females.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
1 citations
,
January 2018 Sphingosine 1-phosphate and its receptor S1PR3 are key in controlling mechanical pain.
December 2025 in “BMC Medical Genomics” Hair follicles can be used to study gene expression and understand conditions like COPD.
56 citations
,
March 2003 in “Journal of Investigative Dermatology” 17β-estradiol can reduce inflammation in the skin.
76 citations
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January 1998 in “Mammalian Genome” 124 citations
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July 1997 in “Journal of Biological Chemistry” Overexpressing a specific enzyme in mice causes hair loss and female infertility.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
7 citations
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August 2005 in “British Journal of Dermatology” Etanercept improved symptoms of a specific type of psoriatic arthritis in a patient who didn't respond to other treatments.
May 2026 in “Scientific Reports” Overexpression of LRIG3 in skin causes hair loss.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
63 citations
,
July 2006 in “British Journal of Dermatology” Psoriasis causes changes in certain keratins and shrinks sebaceous glands in the scalp.
1 citations
,
November 2023 in “International Journal of Molecular Sciences” SOX18 helps sheep hair cells grow by activating a specific cell growth pathway.
25 citations
,
June 2014 in “Journal of Endocrinology/Journal of endocrinology” Human sebaceous glands contain enzymes that affect androgen production and may influence sebum production and acne.
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.