Ovol2 is crucial for hair growth and skin healing by controlling cell movement and growth.
January 2009 in “Egyptian Journal of Medical Human Genetics” The study suggests that a specific gene variation and higher gene activity are linked to increased baldness in Egyptian men.
January 2007 in “Revista del Centro Dermatológico Pascua” Hair loss in women, often not related to male hormones, increases with age and can cause significant emotional distress.
May 2004 in “Pediatric Dermatology” Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
1 citations,
July 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
7 citations,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
194 citations,
November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
179 citations,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
99 citations,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
63 citations,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
10 citations,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
8 citations,
March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The 14-3-3σ gene is essential for preventing hair loss.
7 citations,
October 2011 in “BMC Cancer” Overexpression of HDGF in melanocytes does not cause cancer.
5 citations,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
January 2024 in “Pediatric Dermatology” Minoxidil improved hair growth in a child with a rare genetic disorder.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
73 citations,
April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D receptor is crucial for bone health and mineral metabolism.
45 citations,
August 2018 in “Journal of Lipid Research” Blocking the ATX-LPA pathway may improve insulin sensitivity and mitochondrial function in obesity.
37 citations,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
14 citations,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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.
5 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
5 citations,
December 2021 in “Pediatric investigation” Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
5 citations,
September 2012 in “BMJ case reports” Ashwagandha may improve hormone levels and reduce hair loss in non-classical adrenal hyperplasia.
4 citations,
May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
4 citations,
January 1992 in “American Journal of Ophthalmology”