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
,
April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
3 citations
,
January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
11 citations
,
April 2017 in “Journal of The European Academy of Dermatology and Venereology” Found different long non-coding RNAs in balding Chinese men, which may help create new treatments.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
37 citations
,
January 2010 in “Journal of Clinical Investigation” N-WASP is essential for normal hair growth in mice.
1 citations
,
May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
25 citations
,
April 2015 in “Journal of Investigative Dermatology” GasderminA3 is important for normal hair cycle transitions by controlling Wnt signaling.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
30 citations
,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
53 citations
,
October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
June 2020 in “Journal of Investigative Dermatology” Atopic dermatitis shows a link between skin layers in inflammation, detectable with detailed gene analysis.
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.
39 citations
,
February 1990 in “The journal of cell biology/The Journal of cell biology” Trichohyalin, a hair follicle protein, has a part with repeating patterns of 23 amino acids.
August 2024 in “Current Issues in Molecular Biology” Key genes and RNAs related to hair growth in sheep were identified, aiding future breeding improvements.
18 citations
,
February 1992 in “Molecular Biology Reports” A specific type II hair keratin was identified and found in hair cortex and tongue cells.
April 2023 in “Research Square (Research Square)” A specific RNA helps increase the growth of skin cells in Liaoning cashmere goats by working with a protein to boost a growth-related gene.
77 citations
,
June 2002 in “Journal of Investigative Dermatology” CD44 variant changes start alopecia areata, but don't maintain it.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” The KRTAP15-1 gene affects cashmere fiber thickness in goats.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
1 citations
,
April 2025 in “Animals” The KRTAP13-3 gene affects wool fibre diameter variability in Chinese Tan sheep.