15 citations,
June 2020 in “Experimental Dermatology” Hormones and genes affect hair growth and male baldness.
11 citations,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
2 citations,
August 2020 in “Scientific reports” Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
1 citations,
March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
1 citations,
November 2014 in “British journal of medicine and medical research” PCOS and related metabolic issues often run in families.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
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.
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.
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 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
27 citations,
December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
1 citations,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
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.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
November 2011 in “Pediatric dermatology” Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
1 citations,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
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.
35 citations,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
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.
31 citations,
January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
26 citations,
October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
2 citations,
June 2014 in “مجلة مركز بحوث التقنيات الاحيائية” Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
103 citations,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
86 citations,
December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
50 citations,
February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
43 citations,
November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
37 citations,
January 2005 in “Clinics in dermatology” Recent progress has been made in understanding inherited hair and nail disorders.