6 citations,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
4 citations,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
2 citations,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
1 citations,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
1 citations,
October 2017 in “Circulation” A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
August 2023 in “Research Square (Research Square)” Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
688 citations,
June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
295 citations,
September 2006 in “Cell Cycle” The conclusion is that using drugs to block the TOR pathway might slow aging and prevent age-related diseases.
93 citations,
February 2009 in “Annals of the New York Academy of Sciences” 5α‐reductase isozymes are crucial for prostate development and health, and targeting them can help prevent and treat prostate issues.
70 citations,
April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
65 citations,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
64 citations,
November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
46 citations,
January 2007 in “The European Journal of Contraception & Reproductive Health Care” Birth control pills increase the risk of blood clots, especially within the first year and with certain types.
42 citations,
April 2013 in “Steroids” Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
42 citations,
November 2002 in “The American journal of pathology” Distinct β-catenin patterns are linked to cell growth, not cell death, in lung cancer.
38 citations,
June 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
25 citations,
July 2019 in “Experimental Dermatology” Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
23 citations,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
23 citations,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
18 citations,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
17 citations,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
14 citations,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
14 citations,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
11 citations,
March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
9 citations,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
9 citations,
November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.