December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
4 citations
,
January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
37 citations
,
January 1986 in “Carcinogenesis” ODC expression in mouse skin and tumors is varied and can be inhibited by retinoic acid or cycloheximide.
July 2025 in “Journal of Investigative Dermatology” November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
4 citations
,
December 2024 in “European Journal of Medicinal Chemistry” New pyrazole-based inhibitors show promise for treating metabolic diseases and other conditions.
3 citations
,
October 2022 in “Frontiers in Surgery” Proteomics combined with other technologies can lead to a better understanding of skin diseases.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
May 2006 in “The Journal of Cell Biology” Keratin 17 is crucial for cell growth in wound healing by aiding protein synthesis.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
The agouti gene may help understand and treat obesity.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
21 citations
,
November 2021 in “Cells” Hedgehog pathway inhibitors can treat certain aggressive cancers but face limitations like resistance and side effects.
3 citations
,
January 1984 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.
February 2023 in “Research Square (Research Square)” Applying certain vesicles from umbilical cord stem cells helps heal skin wounds in diabetic mice by reducing cell death and inflammation.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
16 citations
,
September 1999 in “Journal of Investigative Dermatology Symposium Proceedings” 13 citations
,
August 1999 in “Journal of Investigative Dermatology” Bikunin is found on the cell boundaries of certain skin layers and may help regulate skin and hair functions.
November 2016 in “Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)” The VMH AMPK-SNS-BAT axis may help treat cachexia and obesity.
9 citations
,
July 2022 in “Journal of Biological Chemistry” WWP2 is crucial for tooth development in mice.
December 2024 in “Biomaterials Research” Exosomes from hair stem cells can reduce skin aging from UVB exposure.
August 2015 in “MOJ proteomics & bioinformatics” ePUKs could be valuable for regenerative medicine due to their wound healing abilities.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
76 citations
,
February 2007 in “Cancer Research” Protein Kinase Cε increases skin sensitivity to UV damage and skin cancer risk.
3 citations
,
June 2025 in “Journal of Cellular and Molecular Medicine” CuATSM speeds up wound healing and reduces scarring.
November 2025 in “Psychoneuroendocrinology” Hair proteomics could be a useful, non-invasive tool for identifying stress-related disorders.