81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
14 citations
,
May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
3 citations
,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
1 citations
,
October 2023 in “Journal of personalized medicine” Food intake, not genetics, affects how the body processes tadalafil and finasteride.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
March 2024 in “Bioscientia medicina” The rs6152 allele is not a good marker for baldness in the Indonesian population, but family history, age, gender, high blood pressure, and body weight are linked to the risk.
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.
82 citations
,
September 2020 in “Briefings in Bioinformatics” SARS-CoV-2 may worsen IPF due to shared genes and pathways, suggesting potential drug targets.
13 citations
,
October 2024 in “Scientific Reports” Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
9 citations
,
June 2020 in “JAAD Case Reports” Dissecting cellulitis may have genetic links and can cause permanent hair loss.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
June 2025 in “British Journal of Dermatology” Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
October 2021 in “QJM: An International Journal of Medicine” Avoiding smoking, stress, obesity, and poor diet may help reduce hair loss in young Egyptian males.
December 2024 in “Medical Review” Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
179 citations
,
December 1989 in “Medical Entomology and Zoology” Effective management of ichthyoses requires genetic counseling and appropriate treatments.
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.
48 citations
,
May 2012 in “Journal of Midwifery & Women's Health” Polycystic Ovary Syndrome is common but often undiagnosed, and early treatment is important to prevent health problems.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
11 citations
,
October 2017 in “Mycoses” An 80-year-old man's deep beard infection was cured with oral terbinafine after identifying the fungus Trichophyton verrucosum.
2 citations
,
December 2023 in “International journal of molecular sciences” Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
1 citations
,
April 2024 in “Indian Journal of Pharmacy Practice” Autoimmune skin disorders are caused by genetic and environmental factors and are treated with various medications and preventative strategies.
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.
7 citations
,
July 2020 in “Dermatologic therapy” Premature graying of hair is linked to various health issues and can sometimes be reversed by treating underlying conditions.
October 2021 in “Journal of Investigative Dermatology” No significant link between male pattern baldness and severe Covid-19, but some shared biological pathways exist.
854 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
1 citations
,
July 2025 in “Stem Cell Research & Therapy” Stem cell technology may improve hair loss treatments by providing more effective and personalized options.