112 citations
,
January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
49 citations
,
January 2010 in “Plant and Cell Physiology” LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
March 2025 in “FEBS Journal” Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
January 2022 in “Archiv für Tierzucht” EPHA4 and Ephrin A3 are found in the skin of Aohan fine-wool sheep.
14 citations
,
March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
5 citations
,
March 2017 in “Gene” CAP1 decreases the expression of a hair-related protein in young Tan sheep's skin.
Blocking CXCR4 may help treat hidradenitis suppurativa.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
14 citations
,
June 2022 in “Neuroscience” 8 citations
,
February 2024 in “Matrix Biology”
April 2023 in “Journal of Investigative Dermatology” MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
18 citations
,
February 2015 in “Acta Crystallographica Section D: Structural Biology” The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
105 citations
,
February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
15 citations
,
November 2022 in “Cell Death and Disease” CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
1 citations
,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
January 2026 in “Scientific Reports” PCOS involves immune and genetic factors, with key roles for T cells and specific genes.
1 citations
,
August 2025 in “Epigenetics & Chromatin” H3K4me3 helps control RSPO3 to influence hair growth and development.
24 citations
,
December 2013 in “Archives of Dermatological Research” 132 citations
,
February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
6 citations
,
January 2015 in “Biochemical Society Transactions” The Ysc84/SH3yl1 protein family is important for cell movement and the process of taking in materials by interacting with actin and cell membranes.
33 citations
,
October 2006 in “European Journal of Immunology” The CD44-CD49d complex boosts T cell activation and survival in autoimmune disease.
250 citations
,
November 2003 in “The Journal of Cell Biology” BMP receptor IA is essential for proper hair cell differentiation in mice.
33 citations
,
August 2000 in “Experimental Cell Research” 59 citations
,
November 2011 in “Development” Trps1 is essential for proper hair follicle development.