58 citations
,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
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.
32 citations
,
February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
16 citations
,
February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
4 citations
,
May 2006 in “médecine/sciences” The hairless gene is crucial for hair health, and its mutations cause hair loss.
2 citations
,
October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
May 2021 in “Journal of the Endocrine Society” A patient produced cortisol after adrenalectomy, possibly due to residual tissue or other body parts making steroids.
1540 citations
,
October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
411 citations
,
April 2010 in “Gastroenterology” Targeting colon cancer stem cells might lead to better treatment results.
391 citations
,
September 2015 in “Journal of Clinical Lipidology” The guidelines suggest lifestyle changes, diet adjustments, and personalized medication to manage dyslipidemia and reduce heart disease risk.
383 citations
,
February 2011 in “Nature Reviews Genetics” DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
286 citations
,
April 2009 in “The journal of neuroscience/The Journal of neuroscience” TRPA1 is crucial for mechanical sensitivity in skin sensory neurons.
165 citations
,
September 2003 in “Toxicology and applied pharmacology” Blocking COX, especially COX-2, in the skin can reduce inflammation and pain and may help prevent skin cancer.
115 citations
,
March 2019 in “Nature Communications” Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
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.
81 citations
,
February 2019 in “Experimental & Molecular Medicine” PAK4 is crucial in cancer progression, brain development, and could be a therapeutic target, especially through the PAK4-CREB axis.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
81 citations
,
January 2003 in “The FASEB Journal” Follistatin helps hair growth and cycling, while activin prevents it.
68 citations
,
November 2012 in “Journal of Investigative Dermatology” Prostaglandin D2 blocks new hair growth after skin injury through the Gpr44 receptor.
63 citations
,
May 2011 in “Clinical cancer research” The topical inhibitor CUR61414 was not effective in treating basal cell carcinoma in human trials.
44 citations
,
September 2014 in “Cell Death & Differentiation” Tumor suppressors help control inflammation in cancer and restoring their function could lead to new treatments.
40 citations
,
June 2011 in “Journal of biological chemistry/The Journal of biological chemistry” FA2H is essential for normal fur and sebum production in mice.
30 citations
,
July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
29 citations
,
December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
25 citations
,
May 2020 in “EMBO reports” Calcium is important for stem cell function and maintenance, especially in blood and skin cells.
21 citations
,
January 2020 in “General and Comparative Endocrinology” Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.
19 citations
,
August 2023 in “Experimental & Molecular Medicine” Blocking CXXC5 speeds up diabetic wound healing by improving blood vessel growth and skin repair.
15 citations
,
June 2019 in “Journal of Neuroendocrinology” Isoallopregnanolone may be a safe and effective treatment for reducing tics in a mouse model of Tourette syndrome.