25 citations
,
March 2012 in “Journal of Dermatological Science” Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
April 2024 in “Human genomics” Identified genes linked to male-pattern baldness may help develop new treatments.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
133 citations
,
May 2016 in “Cell Host & Microbe” Human dermal fibroblasts are the main cells targeted by a virus that can cause a deadly skin cancer, and a certain inhibitor can effectively block this infection.
56 citations
,
January 2023 in “Genes & Diseases” Repurposing existing drugs and using micronutrients may effectively target cancer stem cells and improve cancer treatment.
55 citations
,
August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
38 citations
,
January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
34 citations
,
October 2017 in “Archivos Argentinos De Pediatria” Alopecia Areata is a complex, unpredictable autoimmune hair loss condition with limited treatment options and a significant psychological impact.
30 citations
,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
30 citations
,
June 2010 in “Endocrine Related Cancer” SRD5A1 is crucial in advanced prostate cancer, and blocking both SRD5A1 and SRD5A2 is more effective than targeting SRD5A2 alone.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
18 citations
,
April 2013 in “PLOS ONE” Mice with autoimmune hair loss showed signs of heart problems.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
15 citations
,
December 2021 in “Pharmaceutics” The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
14 citations
,
May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
11 citations
,
October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
6 citations
,
July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
4 citations
,
August 2013 in “Case reports in dermatology” A patient with total hair loss developed vitiligo after using a treatment called DCP.
3 citations
,
October 2024 in “International Journal of Molecular Sciences” Certain genes in fat tissue affect weight loss in women with PCOS.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
1 citations
,
January 2020 in “Journal of Translational Genetics and Genomics” Certain genes may help Bulgarians live longer.
1 citations
,
January 2019 in “Springer eBooks” Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
1 citations
,
October 2012 in “Medical Hypotheses” The conclusion suggests that treatments targeting root causes of chronic diseases may be developed by focusing on gene expression and lifestyle factors.
August 2025 in “BMC Genomics” Certain genes contribute to stronger hooves in barefoot racing horses.
May 2025 in “Anadolu Kliniği Tıp Bilimleri Dergisi” Gene variations may increase oxidative stress in male pattern baldness.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
September 2023 in “International journal of women’s dermatology” Certain hairstyles, diabetes, scalp infections, and vitamin D deficiency may increase the risk of hair loss in Black women; more research is needed for better treatment.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
May 2020 in “International journal of molecular biology” Mutations in the AR gene cause hair thinning and loss.