November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
8 citations
,
September 2017 in “Scientific Reports” MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
September 2025 in “Jurnal Penelitian Pendidikan IPA” Two genetic variations in Moa buffalo help them adapt to heat.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
26 citations
,
May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
60 citations
,
September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
6 citations
,
November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
January 2004 in “Molecular biotechnology”
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
13 citations
,
December 2020 in “PLoS ONE” Genetic factors influence growth and brain development in children.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
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.
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.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
2 citations
,
January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
30 citations
,
October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
December 2025 in “Animals” TGFBR1 slows down cell growth in fine-wool sheep hair follicles.
1 citations
,
April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
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.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
29 citations
,
July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
12 citations
,
June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.