May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
6 citations
,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
301 citations
,
May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
244 citations
,
September 2008 in “Annual Review of Genomics and Human Genetics” The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.
50 citations
,
April 2014 in “Nature Communications” The research identified new skin traits in mice, some linked to human skin conditions.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
1 citations
,
September 2017 C-scores can help predict gain-of-function and loss-of-function mutations.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
556 citations
,
September 2008 in “Genes & Development” Wnt signaling is vital for cell growth, development, and cancer research.
1 citations
,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
November 2016 in “Endocrinology&Metabolism International Journal” PCOS has no cure, but treatments can manage symptoms and improve health.
85 citations
,
June 2015 in “Scientific Reports” The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
1 citations
,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
December 2025 in “Al-Iraqia Medical College Journal” Virus infection risk is linked to heat tolerance and size, but decreases with high humidity and mutation rate.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
48 citations
,
October 2004 in “Molecular and Cellular Biology” Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
12 citations
,
September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
May 2020 in “International journal of molecular biology” Mutations in the AR gene cause hair thinning and loss.
3 citations
,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
7 citations
,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
November 2011 in “Pediatric dermatology” Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
44 citations
,
April 2012 in “American Journal of Clinical Dermatology” Scarring alopecias are complex hair loss disorders that require early treatment to prevent permanent hair loss.
1 citations
,
January 2016 in “Elsevier eBooks” The document concludes that identifying the specific cells where skin cancers begin is important for creating better prevention, detection, and treatment methods.
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
56 citations
,
December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
36 citations
,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.