April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
19 citations
,
December 2016 in “PLOS ONE” Early-stage skin cells help regenerate hair follicles, with proteins SDF1, MMP3, biglycan, and LTBP1 playing key roles.
198 citations
,
October 1986 in “Differentiation” 9 citations
,
July 2007 in “Journal of Investigative Dermatology” Claudin expression changes help the skin respond to injury.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
March 2026 in “Wound Repair and Regeneration” MARCKSL1 is important for wound healing and could be a target to reduce scarring.
3 citations
,
January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
37 citations
,
January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
1 citations
,
April 2025 in “Animals” The KRTAP13-3 gene affects wool fibre diameter variability in Chinese Tan sheep.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis 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.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
3 citations
,
September 2024 in “Journal of Microbiology and Biotechnology” Human placenta extract reduces inflammation and symptoms in atopic dermatitis.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
September 2007 in “Journal of Investigative Dermatology” ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
47 citations
,
February 2014 in “Journal of Cutaneous Pathology” Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
January 2026 in “Aging and Disease” DKK proteins could help diagnose and treat various non-cancerous diseases.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
February 2020 in “Definitions” KRT72 gene helps form hair.
109 citations
,
October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
16 citations
,
January 2017 in “Physical chemistry chemical physics/PCCP. Physical chemistry chemical physics” The 3D structure of a key hair protein was modeled, revealing specific helical structures and stabilization features.