409 citations
,
May 1991 in “Genes & Development” TGF-alpha affects skin thickness, hair growth, and may contribute to psoriasis and papilloma formation.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
8 citations
,
March 2023 in “International Wound Journal” IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
7 citations
,
April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
71 citations
,
January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
9 citations
,
April 2006 in “American Journal of Pathology” SGK3 is essential for proper hair growth and health.
52 citations
,
July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
33 citations
,
August 2008 in “American Journal Of Pathology” Hedgehog signaling is essential for normal sebaceous gland development and affects keratin 6a expression.
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 2026 in “Biomolecules” TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
29 citations
,
January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” A parasite-derived molecule speeds up skin healing and affects immune cell behavior without increasing scarring.
February 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
July 1997 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”
1 citations
,
April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
January 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
January 2026 in “Figshare” January 2026 in “Figshare” 7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
53 citations
,
August 2005 in “The Journal of Cell Biology” Sgk3 is essential for normal hair follicle growth and maintenance.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
1 citations
,
October 2021 in “Journal of Investigative Dermatology” 37 citations
,
January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
2 citations
,
July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
29 citations
,
December 2016 in “The EMBO Journal” Gata6 is important for protecting hair growth cells from DNA damage and keeping normal hair growth.
4 citations
,
January 2019 in “Journal of cutaneous pathology” The mTOR pathway may be involved in the development of hair follicle tumors, with higher activity in malignant tumors.