3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
1 citations
,
October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
412 citations
,
January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
6 citations
,
March 1996 in “Journal of Investigative Dermatology” 76 citations
,
January 1998 in “Mammalian Genome”
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
January 1999 in “Journal of Investigative Dermatology” 19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
13 citations
,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
19 citations
,
November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
40 citations
,
December 2010 in “Human Genetics”
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
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.
5 citations
,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.