2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
2 citations,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
2 citations,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
2 citations,
June 2006 in “Experimental dermatology” Skin patterns form through molecular signals and genetic factors, affecting healing and dermatology.
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.
1 citations,
December 2018 in “Journal of Cosmetic Dermatology” Men with thinner hair from genetic hair loss may be more likely to have an enlarged prostate.
1 citations,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
1 citations,
August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
November 2022 in “Brazilian journal of veterinary pathology” The Yorkshire terrier has a genetic hair loss condition not improved by treatment.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
April 2020 in “Journal of evolution of medical and dental sciences” A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
August 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.
February 2011 in “Journal of Clinical Investigation” Genetically repaired stem cells may treat certain genetic diseases, Th17 cells are key in fighting systemic fungal infections, hair loss in AGA is due to progenitor cell loss, and α-synuclein transfer might contribute to Parkinson's disease progression.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
January 2009 in “Revista de Ciências Médicas” Male pattern baldness is a genetic condition causing hair loss, with limited but improving treatment options.
November 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
November 2005 in “NEJM Journal Watch” Hair count is important to distinguish between genetic hair thinning (Androgenetic Alopecia) and hair thinning caused by disrupted hair growth (Chronic Telogen Effluvium).
432 citations,
April 2014 in “Nature communications” A mother's diet at conception can cause lasting genetic changes in her child.
170 citations,
May 1979 in “The journal of pediatrics/The Journal of pediatrics” Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
124 citations,
June 2002 in “Best Practice & Research Clinical Endocrinology & Metabolism” Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.
109 citations,
October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
75 citations,
October 2012 in “Journal of Investigative Dermatology” Alopecia areata can be triggered by specific immune cells without genetic or environmental factors.
59 citations,
January 2010 in “International Journal of Pediatric Endocrinology” NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
44 citations,
February 2023 in “Cell” Fingerprints form uniquely before birth due to specific genetic pathways and local signals.
44 citations,
September 2020 in “International Journal of Molecular Sciences” New treatments are needed for PCOS that target its genetic, hormonal, and metabolic causes.