12 citations,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
5 citations,
July 2020 in “JAMA Dermatology” Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
5 citations,
May 2018 in “Veterinary dermatology” Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
15 citations,
February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
September 2016 in “Journal of dermatological science” The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
89 citations,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
75 citations,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
28 citations,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
9 citations,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
50 citations,
February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
1 citations,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
74 citations,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
12 citations,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
36 citations,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
8 citations,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
7 citations,
May 2021 in “Animal Genetics” The CORIN gene variant causes the golden color in Siberian cats.
13 citations,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
7 citations,
March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
2 citations,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
1 citations,
February 2013 in “Clinical pediatrics” The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.
January 2023 in “The Keio Journal of Medicine” Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
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 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.