38 citations
,
January 2014 in “Journal of Dermatological Science” Krtap11-1 is important for hair strength and structure.
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.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
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.
November 2005 in “Journal of Investigative Dermatology Symposium Proceedings” The 2004 hair research meeting presented new findings on hair cell differentiation, genetic factors in hair loss, hair pigmentation, and potential targeted therapies.
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.
48 citations
,
February 2010 in “Molecular biology reports” KAP7.1 and KAP8.2 genes are crucial for cashmere quality in goats.
46 citations
,
March 2001 in “Journal of endocrinological investigation” 5α-reductase inhibitors, like finasteride and dutasteride, effectively treat BPH, male baldness, and hirsutism, with potential for acne and prostate cancer prevention.
3 citations
,
August 2018 in “Journal of Structural Biology” KAP8.1 protein is crucial for hair structure and interacts with keratin 85.
237 citations
,
December 2001 in “Urology” Blocking the enzyme 5α-reductase can shrink the prostate and help treat enlarged prostate issues.
37 citations
,
March 1990 in “The Journal of Pediatrics” Toxic shock syndrome is caused by a complex interaction of bacterial toxins and the immune system, and understanding this can help improve diagnosis and treatment.
7 citations
,
June 2022 in “Biology” Men with more CAG repeats in the androgen receptor gene and lower testosterone levels may experience more severe COVID-19.
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.
19 citations
,
November 2021 in “Reviews in endocrine and metabolic disorders” Sex hormones like estrogen and testosterone may affect COVID-19 severity differently in men and women, potentially influencing prevention and treatment strategies.
16 citations
,
December 2021 in “Frontiers in Endocrinology” Sex hormones may affect COVID-19 severity, with estrogen possibly reducing risk and testosterone potentially increasing it.
12 citations
,
February 2023 in “Journal of Personalized Medicine” Type 1 diabetes often occurs with other autoimmune diseases, and personalized treatment based on genetics can improve outcomes.
3 citations
,
April 2022 in “Clinical, Cosmetic and Investigational Dermatology” Different methods, including stress management, healthy diet, supplements, and treatments like minoxidil, can help hair grow back after COVID-19 related hair loss.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
17 citations
,
May 1998 in “Steroids” Researchers developed a model to predict how well certain compounds can block an enzyme related to hair loss and prostate issues, suggesting a 50 mg dose of finasteride might be effective based on lab and body data.
October 2025 in “Journal of the Endocrine Society” Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
120 citations
,
August 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cytokeratin 19 and cytokeratin 15 are key markers for monitoring the quality and self-renewing potential of engineered skin.
119 citations
,
September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
93 citations
,
May 2002 in “Journal of Investigative Dermatology” Overexpressing thrombospondin-1 in mice skin prevents UVB-induced skin damage.
82 citations
,
March 2016 in “Autoimmunity reviews” Animal models have helped understand hair loss from alopecia areata and find new treatments.
71 citations
,
November 2013 in “Clinics in Dermatology” Acne is a chronic disease linked to various systemic conditions and has significant psychological and social effects.
57 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Vitamin D receptor is crucial for starting hair growth after birth.
52 citations
,
January 2003 in “Journal of Investigative Dermatology” Thrombospondin-1 is crucial for hair follicle regression and reduced blood vessel growth during the catagen phase.
50 citations
,
January 2016 in “The Journal of Clinical Endocrinology and Metabolism” Certain microRNAs in the fluid around eggs are linked to Polycystic Ovary Syndrome and may help diagnose it.