28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
23 citations
,
January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
14 citations
,
June 2012 in “Stem Cells” TACE/ADAM17 is essential for maintaining healthy hair and hair follicle stem cells.
8 citations
,
December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
2 citations
,
April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
2 citations
,
January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
March 2026 in “Journal of Investigative Dermatology”
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
19 citations
,
September 2010 in “The American journal of pathology” High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
7 citations
,
February 2015 in “Journal of comparative pathology” CD8+ T cells play a key role in graft-versus-host disease in certain mice models.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
May 2025 in “The FASEB Journal” Targeting the TNFRSF1B gene may help treat hair loss.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
56 citations
,
February 2010 in “PLOS ONE” Blocking Wnt signaling in young mice causes thymus shrinkage and cell loss, but recovery is possible when the block is removed.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
4 citations
,
May 2025 in “npj Parkinson s Disease” PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
59 citations
,
November 2011 in “Development” Trps1 is essential for proper hair follicle development.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
16 citations
,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
1 citations
,
February 2025 in “Journal of the Neurological Sciences” Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.