7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
March 2023 in “Scientific reports” Hair growth-related cells need the enzyme SCD1 to help maintain the area that supports hair growth.
April 2012 in “The FASEB Journal” LPA 4 helps control blood and lymph vessel development in zebrafish.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
April 2010 in “Cancer Research” Mcl-1 can activate Wnt signaling in skin cells, promoting growth and possibly cancer.
990 citations
,
October 1999 in “Development” Activated LEF/TCF complexes are crucial for hair development and cycling.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
1 citations
,
December 2022 in “Pediatric dermatology” A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
13 citations
,
June 2018 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Laminin-511 may contribute to psoriasis by affecting skin cell growth and survival.
4 citations
,
September 2016 in “Molecular Medicine Reports” Specific genes influence hair and cashmere growth in Laiwu black goats.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
12 citations
,
August 2022 in “Stem cell reviews and reports” Increasing PBX1 reduces aging and cell death in hair follicle stem cells by boosting SIRT1 and lowering PARP1 activity.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
26 citations
,
April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
46 citations
,
August 2006 in “Mechanisms of Development” Runx1 is crucial for proper hair structure and development.
1 citations
,
April 2016 in “Journal of lipid research” Lipin-1 is important for skin cell differentiation and skin barrier function.
56 citations
,
July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
March 2024 in “Cytologia” LncRNA MTC boosts growth of goat skin cells, improving cashmere quality.
September 2008 in “Pediatric Rheumatology” Two children with lysinuric protein intolerance showed symptoms similar to lupus.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
12 citations
,
December 2003 in “Gene” The ovine Hoxc-13 gene is crucial for hair formation and may have other skin functions.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
56 citations
,
October 2007 in “Journal of Biological Chemistry” Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
4 citations
,
August 2022 in “Cells” lncRNA2919 slows down rabbit hair growth by stopping cell growth and causing cell death.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.