91 citations
,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
555 citations
,
July 2001 in “Genes & Development” Tcf3 and Lef1 are key in deciding skin stem cell roles.
17 citations
,
September 2022 in “Genes & Genomics” Long non-coding RNAs affect feather growth in chickens in ways that don't follow traditional genetic rules.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
13 citations
,
July 2014 in “The Journal of Dermatology” Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
1 citations
,
May 2015 in “Experimental Dermatology” Overactive Stat3 in mouse skin causes hair loss and cell structure damage.
87 citations
,
July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
4 citations
,
February 2023 in “Research Reports in Clinical Cardiology” Certain genes and high cholesterol levels increase heart disease risk in Ethiopian patients with high blood pressure.
July 2023 in “New phytologist” The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
35 citations
,
September 1994 in “Journal of Investigative Dermatology” 11 citations
,
July 2022 in “Frontiers in Immunology” Four specific genes are linked to keloid formation and could be potential treatment targets.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
58 citations
,
July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
9 citations
,
July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
72 citations
,
July 2002 in “Journal of Investigative Dermatology” Desmoglein 1 can partly make up for the loss of Desmoglein 3 in hair adhesion but not in mucous membranes.
15 citations
,
April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
January 1999 in “Journal of Investigative Dermatology” 19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
128 citations
,
August 2015 in “Cell Stem Cell” Damage to skin releases dsRNA, which activates TLR3 and helps in skin and hair follicle regeneration.
November 2022 in “Journal of Investigative Dermatology” Deleting MPZL3 increases skin oil production and reduces body fat.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
February 2026 in “Biomedicine & Pharmacotherapy” MLPH helps hair grow by activating IGF-1 signaling in hair cells.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
5 citations
,
January 2001 in “Journal of dermatological science” The G(S) alpha subunit gene may help start hair follicle growth in newborn mice.
43 citations
,
November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.