October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
29 citations
,
July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
15 citations
,
November 2022 in “Cell Death and Disease” CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
46 citations
,
December 1998 in “Journal of Biological Chemistry” Keratin 19 forms less stable and shorter filaments than keratin 14, giving unique traits to certain skin cells.
January 2023 in “International journal of biological sciences” COX2 and ATP synthase control the size of hedgehog spines.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
125 citations
,
August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone 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.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
February 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Keratin 15 helps keep skin cells in a young, undifferentiated state.
1 citations
,
April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
1 citations
,
May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
52 citations
,
September 2012 in “Oncogene”
3 citations
,
April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
34 citations
,
January 2004 in “Genomics” A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
14 citations
,
April 2016 in “PloS one” The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
24 citations
,
October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
5 citations
,
June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
December 2004 in “SUNScholar (Stellenbosch University)” Certain genetic markers can indicate a person's risk of developing prostate cancer.
14 citations
,
February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
124 citations
,
July 2017 in “eLife” Type XVII collagen helps control skin cell growth and could be a target for anti-aging treatments.
Defective protein folding due to a mutation is key in ANE syndrome.
1 citations
,
October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
15 citations
,
March 2021 in “EMBO Reports” PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” ZDHHC17 methylation may help treat or identify facial skin aging.