9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
3 citations
,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
32 citations
,
November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
11 citations
,
March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
7 citations
,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
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.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
51 citations
,
December 2006 in “Mammalian Genome” 1 citations
,
September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
1 citations
,
April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
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.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.