8 citations,
January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
8 citations,
January 2007 in “International journal of experimental pathology” Hairless HRS/J mice resist Bacillus anthracis skin infections due to high numbers of immune cells, not because they lack hair follicles.
8 citations,
January 2003 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
7 citations,
September 2017 in “Scientific Reports” Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
7 citations,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
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.
7 citations,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
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.
6 citations,
November 2017 in “Skin appendage disorders” Topical botanical lotion increases hair density and improves quality of life in women with hair loss.
6 citations,
January 2013 in “Genetics and Molecular Research” Women with hair loss have more androgen receptors in certain hair follicles.
6 citations,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
6 citations,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
6 citations,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
6 citations,
November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
5 citations,
August 2019 in “iScience” Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
5 citations,
January 2016 in “Dermatology” No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
5 citations,
August 2013 in “InTech eBooks” KLF4 is important for maintaining stem cells and has potential in cancer treatment and wound healing.
4 citations,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
4 citations,
February 2015 in “Journal of Clinical Laboratory Analysis” A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
4 citations,
October 1988 in “Clinics in Dermatology” Dihydrotestosterone (DHT) is crucial for conditions like male-pattern baldness and acne, and measuring a byproduct, androstanediol glucuronide, is a better way to assess DHT's effects than DHT blood levels.
3 citations,
July 2021 in “Drug Testing and Analysis” 5α-reductase inhibitors can interfere with doping tests by masking banned substances.
3 citations,
June 2020 in “Developmental Cell” Feather patterns are influenced by enhancers and chromatin looping, and the structure of protein complexes important for hair growth has been detailed.
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.
3 citations,
October 2019 in “Dermatologic Therapy” Hair loss in men is mainly caused by hormones and genes, and while current treatments can slow it down, they can't fully stop it.
3 citations,
February 2016 in “Nature Biotechnology” New drug shows promise for better hair growth in baldness treatment.
3 citations,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
3 citations,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
2 citations,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
1 citations,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
1 citations,
August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.