October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
15 citations
,
March 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” As skin cells mature, vitamin D receptor levels decrease while retinoid X receptor α levels increase.
28 citations
,
August 1992 in “Differentiation” A new pair of mouse keratins, 65 kD and 48 kD, are found in specific skin areas and are linked to a unique skin differentiation type.
28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
11 citations
,
January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
184 citations
,
September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
1 citations
,
November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Signals from skin cells controlled by Rac proteins help turn certain precursor cells into white fat cells.
2 citations
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
April 2023 in “Journal of Investigative Dermatology” Blocking casein kinase 1 in skin cells can help melanocyte precursors move better, potentially helping with conditions like vitiligo or gray hair.
30 citations
,
June 2000 in “Journal of dermatological science” Human keratinocytes do not naturally respond to androgens.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” TET enzymes are important for skin and hair development by controlling gene activity in specific areas.
75 citations
,
September 2016 in “EMBO journal” PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
12 citations
,
March 2011 in “Journal of pathology” Oncogenic K-ras causes rapid cancerous changes in the mouth's lining.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
14 citations
,
October 2015 in “PLoS ONE” Keratin 14 is uniquely found in a specific group of placental cells.
99 citations
,
February 2000 in “PubMed” Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
3 citations
,
May 2025 in “Cell Death and Disease” Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
February 2024 in “Planta” TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
127 citations
,
July 2002 in “EMBO journal” Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
1 citations
,
May 2024 in “Pediatric Blood & Cancer” Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
198 citations
,
March 1999 in “Journal of Investigative Dermatology” Keratin 15 helps maintain tissue integrity and is reduced in activated keratinocytes.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
37 citations
,
November 2007 in “Journal of Biological Chemistry” Ku80 is a key receptor for Thymosin β4, affecting cell migration and wound healing.
48 citations
,
April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
10 citations
,
November 2021 in “International journal of molecular sciences” Sheep and goat hair fibers are complex due to keratin-associated proteins, which are important for fiber properties and growth.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.