103 citations,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
103 citations,
January 2011 in “Blood” Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
102 citations,
August 2008 in “Genes & Development” Laminin-511 is crucial for early hair growth and maintaining important hair development signals.
101 citations,
April 1994 in “Baillière's clinical endocrinology and metabolism” 5α-reductase is essential for male sexual development and its inhibitors have potential in treating various conditions related to hormone action.
100 citations,
September 2016 in “Clinical transplantation/Clinical transplantation.” Voriconazole can cause serious side effects, especially in long-term use.
98 citations,
June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
96 citations,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
96 citations,
October 2000 in “The FASEB Journal” The p75 neurotrophin receptor is important for hair follicle regression by controlling cell death.
95 citations,
July 2010 in “Genes & development” Notch/CSL signaling controls hair follicle differentiation through Wnt5a and FoxN1.
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.
89 citations,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
88 citations,
August 2019 in “Nature communications” Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
87 citations,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
87 citations,
September 2014 in “International Journal of Molecular Sciences” FOXO1 is important for wound healing, but its dysfunction in diabetes can slow the healing process.
87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
86 citations,
October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
86 citations,
July 2002 in “Clinical and Experimental Dermatology” FPHL is a common, age-related, genetic hair loss with unclear causes and limited treatment options.
86 citations,
December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
85 citations,
September 2013 in “International Journal of Molecular Sciences” Keratin 15 is not a reliable sole marker for identifying epidermal stem cells because it's found in various cell types.
85 citations,
July 2002 in “Pigment Cell Research” The article concludes that while we understand a lot about how melanocytes age and how this can prevent cancer, there are still unanswered questions about certain pathways and genes involved.
84 citations,
June 2010 in “The Plant Cell” Phospholipase A2 is necessary for the correct placement of PIN proteins in plant roots, affecting root growth.
82 citations,
March 2016 in “Autoimmunity reviews” Animal models have helped understand hair loss from alopecia areata and find new treatments.
81 citations,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
81 citations,
January 2006 in “Journal of cellular physiology” Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
81 citations,
January 2003 in “The FASEB Journal” Follistatin helps hair growth and cycling, while activin prevents it.
77 citations,
February 2017 in “Stem Cell Reports” SHISA6 helps maintain certain stem cells in mouse testes by blocking signals that would otherwise cause them to differentiate.
77 citations,
April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.