December 1981 in “ビジネスコミュニケ-ション” TRPV1 affects sebaceous gland function and could help treat acne.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
2 citations
,
June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
15 citations
,
June 2011 in “Journal of Investigative Dermatology” Overexpressing 14-3-3σ in mice skin reduces cell growth and hair density.
1 citations
,
October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Heat shock proteins help basal cell carcinoma grow by responding to inflammation signals.
October 2024 in “SPIRE - Sciences Po Institutional REpository” Glypicans help hair follicle stem cells differentiate by interacting with specific receptors, influencing hair growth.
52 citations
,
September 2012 in “Oncogene”
9 citations
,
August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
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.
Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.
93 citations
,
May 2002 in “Journal of Investigative Dermatology” Overexpressing thrombospondin-1 in mice skin prevents UVB-induced skin damage.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
115 citations
,
December 2019 in “The Plant Journal” Nitrate helps plants manage phosphate uptake and starvation responses through NIGT1 proteins.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
3 citations
,
April 2022 in “Frontiers in Physiology” Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
52 citations
,
January 2003 in “Journal of Investigative Dermatology” Thrombospondin-1 is crucial for hair follicle regression and reduced blood vessel growth during the catagen phase.
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.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
January 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
15 citations
,
December 2020 in “The Journal of General Physiology” Acid can block TRPV3 from outside the cell but boost its function from inside.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
2 citations
,
February 2014 in “Animal Biotechnology” The PTGER2 gene is highly active in Cashmere goat skin and its activity changes with the hair growth cycle.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
4 citations
,
May 2022 in “Genes & Diseases”
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.