11 citations
,
November 1991 in “Journal of Neuropathology & Experimental Neurology” Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
21 citations
,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
April 2012 in “Development” Rac1 is crucial for normal hair structure and pigmentation.
29 citations
,
June 2018 in “Scientific Reports” 15-lipoxygenase helps keep skin healthy by reducing inflammation.
2 citations
,
May 2011 in “Pigment Cell & Melanoma Research” Collagen XVII is crucial for preventing hair and pigmentation loss by maintaining melanocyte stem cells.
Suppressing ODC activity reduces tumor growth in hair follicles.
26 citations
,
August 2019 in “Stem Cell Research & Therapy” PBX1 helps hair stem cells grow and change by turning on certain cell signals and preventing cell death, which may be useful for hair regrowth treatments.
28 citations
,
July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
5 citations
,
December 2020 in “Gene” ANXA1 influences hair growth in mice through the EGF signaling pathway.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
12 citations
,
August 1984 in “Genetics Research” The N gene affects the protein makeup of mouse hair.
15 citations
,
May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
22 citations
,
May 2007 in “Molecular Biotechnology”
January 2016 in “Journal of Investigative Dermatology” Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
49 citations
,
August 1999 in “Journal of Investigative Dermatology” Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
81 citations
,
February 2014 in “EMBO molecular medicine” Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
48 citations
,
August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
1 citations
,
May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
8 citations
,
October 2012 in “Transgenic Research” Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
October 2023 in “IBRO neuroscience reports” Rat hair follicle stem cells have functional oxytocin receptors, useful for studying neuropsychiatric disorders.
2 citations
,
January 2000 in “Journal of Toxicologic Pathology” A single recessive gene causes sparse hair in certain Japanese White rabbits.
March 2012 in “Journal of The American Academy of Dermatology” Hand-foot-mouth disease may cause nail loss in children.
1 citations
,
August 2022 in “International journal of women’s dermatology” Botox injections may be a safe and effective way to treat severe, itchy skin disease when other treatments fail.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
98 citations
,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.