February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.
100 citations
,
November 2017 in “EMBO Reports” Metabolic signals and cell shape influence how cells develop and change.
29 citations
,
July 2013 in “Journal of Investigative Dermatology” UV radiation causes skin cancer, but sunscreens and certain drugs can help prevent it.
7 citations
,
July 2011 in “Archives of Dermatology” Alopecia areata caused a boy's hair to regrow straight instead of curly, but the exact reason is unknown.
2 citations
,
May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
August 2024 in “International Journal of Molecular Sciences” Androgenetic alopecia involves immune cell disruptions, especially increased CD4+ T cells around hair follicles.
37 citations
,
December 2020 in “PLANT PHYSIOLOGY” A mutant FERONIA gene affects root hair growth at high temperatures.
27 citations
,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
September 2023 in “Nature Communications” Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
854 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
717 citations
,
June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
318 citations
,
January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
188 citations
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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.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
135 citations
,
March 2000 in “Journal of Biological Chemistry” Agouti and AGRP affect pigmentation and obesity, with implications for metabolic disorders.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
79 citations
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December 1999 in “Mechanisms of Development” Whn is crucial for hair growth in certain areas by controlling a specific gene.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
37 citations
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October 2014 in “JAMA dermatology” A woman with severe hair loss was successfully treated with the drug adalimumab.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
27 citations
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June 2020 in “Genes” Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
25 citations
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November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
24 citations
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April 2014 in “Oncotarget” Minoxidil can reduce functions related to androgen receptors.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.