August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
414 citations
,
August 2005 in “Nature” Activating TERT in mice skin boosts hair growth by waking up hair follicle stem cells.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
99 citations
,
December 2010 in “Journal of The European Academy of Dermatology and Venereology” The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.
66 citations
,
August 2007 in “Applied and environmental microbiology” The engineered yeast strain BLYAS can quickly and sensitively detect androgenic chemicals.
46 citations
,
May 2011 in “Movement Disorders” Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
31 citations
,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
21 citations
,
December 2013 in “Archives of Dermatological Research” No link found between new male baldness genes and female hair loss.
19 citations
,
August 2008 in “Journal of The European Academy of Dermatology and Venereology” Bald areas have lower cell growth, more DNA damage, and increased cell death.
16 citations
,
June 2008 in “Springer eBooks” Over 50% of women over 50 experience hair loss, with minoxidil being the only proven effective treatment.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
7 citations
,
July 2008 in “Experimental Dermatology” The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
6 citations
,
January 2015 in “Journal of The European Academy of Dermatology and Venereology” Different hair loss types need accurate diagnosis for proper treatment.
4 citations
,
June 2025 in “Medeniyet Medical Journal” TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
4 citations
,
March 2025 in “The Journal of Dermatology” Ritlecitinib is effective and safe for hair regrowth in Asian patients with alopecia areata.
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
,
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
January 2023 in “International Journal of Contemporary Pediatrics” A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
3 citations
,
June 2024 in “Journal of Neuroendocrinology” Many women with PCOS have abnormal cholesterol levels, needing careful management.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
133 citations
,
February 2017 in “PLoS Genetics” Genetic factors can help predict male pattern baldness risk.
72 citations
,
April 2008 in “Organogenesis” Wnt signaling is crucial for skin and hair development and its disruption can cause skin tumors.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
3 citations
,
May 2024 in “Amino Acids” Disrupted cysteine metabolism may cause hair breakage in Alopecia Areata, suggesting potential treatments like N-acetylcysteine.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.