12 citations,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
9 citations,
May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
9 citations,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
7 citations,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
3 citations,
February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
March 2022 in “Journal of cosmetic dermatology” Botanical extracts can help treat hair loss in people with certain genetic conditions.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
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.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
25 citations,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
13 citations,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
2 citations,
November 2011 in “Pediatric dermatology” July 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” 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.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
28 citations,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
19 citations,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
13 citations,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
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.
11 citations,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
7 citations,
May 2021 in “Animal Genetics” The CORIN gene variant causes the golden color in Siberian cats.
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
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.
December 2022 in “The Turkish Journal of Pediatrics” Hair examination helps diagnose rare neurological diseases in children.