72 citations
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July 2012 in “Journal of Investigative Dermatology” Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
S1PR1 helps control inflammation in blood vessel cells by affecting gene activity differently in various cell types and locations.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
37 citations
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February 2023 in “Gut Microbes” Gut bacteria can lower androgen levels in male mice.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
May 2012 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Prostaglandin D2, found in higher levels in bald scalps, stops hair growth, suggesting that blocking its receptor could potentially treat hair loss.
1 citations
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January 2023 in “The FASEB Journal” CircAGK affects cell death in hair cells by controlling the miR-3180-5p/BAX pathway, which can lead to hair loss.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
193 citations
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June 2007 in “The Plant Journal” GhDET2 is crucial for cotton fiber growth.
November 2022 in “Journal of the Endocrine Society” A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
70 citations
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March 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Blocking a specific enzyme might help treat obesity and diabetes, but more research is needed to ensure it's safe.
1 citations
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January 1989 in “Carcinogenesis” Dexamethasone reduces inflammation and delays skin cell changes caused by TPA.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
July 2024 in “Journal of Investigative Dermatology” Recombinant human TSG-6 speeds up wound healing in diabetic mice.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
July 2022 in “Journal of Investigative Dermatology” TRPS1 loss in balding scalp areas contributes to hair loss in androgenic alopecia.
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
9 citations
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August 1952 in “The Journal of Clinical Endocrinology & Metabolism” A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
54 citations
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February 2002 in “Carcinogenesis” Increasing SSAT makes skin more prone to cancer.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
13 citations
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June 2007 in “Journal of Dermatological Science” Researchers created a cell line to study hair growth and found specific genes affected by dihydrotestosterone.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
April 2016 in “Journal of Investigative Dermatology” Blocking Prostaglandin D₂ (PGD₂) could help treat hair loss.
Individualized treatments may help manage Dercum's disease symptoms.