252 citations
,
November 1995 in “The EMBO Journal” Blocking EGFR in mice causes hair loss and skin changes.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
3 citations
,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
2 citations
,
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
54 citations
,
October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
31 citations
,
July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
2 citations
,
September 1998 in “Der Hautarzt” A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
52 citations
,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
12 citations
,
August 1984 in “Genetics Research” The N gene affects the protein makeup of mouse hair.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
March 2016 in “Benha Veterinary Medical Journal” Type XIX Collagen is present in specific skin and hair cells during development.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
114 citations
,
January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
74 citations
,
June 2018 in “Cell death and disease” Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.
1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
38 citations
,
February 1989 in “Journal of Investigative Dermatology”
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.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
8 citations
,
September 2016 in “Journal of Investigative Dermatology” Mice with more Flightless I protein grew back their claws better after amputation.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.