September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
23 citations
,
April 2016 in “American Journal of Pathology” The research suggests that a specific skin gene can be controlled by signals within and between cells and is wrongly activated in certain skin diseases.
February 2014 in “Revista Argentina de Cardiología” Androgens may increase arrhythmias in Brugada Syndrome, while Finasteride could reduce them.
21 citations
,
October 2022 in “International Journal of Molecular Sciences” Quercitrin may help treat Alzheimer's by boosting brain cell signaling without causing tumors.
20 citations
,
January 2017 in “Genetica” The methylation of the HOXC8 gene's exon 1 affects cashmere fiber length in goats.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
6 citations
,
October 2022 in “Frontiers in Physiology” Calcium channels are vital for normal skin function and their dysfunction can lead to skin issues.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
8 citations
,
August 1987 in “The Journal of Dermatology” BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.
September 2025 in “Genes” Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.
13 citations
,
September 2012 in “Cell & tissue research/Cell and tissue research” pCLCA2 protein may help maintain skin structure and function.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” CTCF protein is essential for skin and hair follicle development in mice.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.
November 2010 in “Bradford Scholars (University of Bradford)” KATP channels are crucial for hair growth, and targeting them may lead to new hair loss treatments.
4 citations
,
February 2023 in “iScience” Korean long-tailed chickens have unique genes valuable for ornamental breeding.
2 citations
,
August 2022 in “Frontiers in Veterinary Science” The research found key RNA networks that may control hair growth in cashmere goats.
13 citations
,
January 2021 in “Scientific Reports” Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
April 2023 in “Journal of Investigative Dermatology” Blocking casein kinase 1 in skin cells can help melanocyte precursors move better, potentially helping with conditions like vitiligo or gray hair.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
3 citations
,
January 2005 in “Photochemistry and Photobiology” Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.
232 citations
,
July 1995 in “Nature Genetics”
32 citations
,
November 2016 in “Journal of Dental Research” Pannexin 3 is important for bone formation and the development of bone cells.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
59 citations
,
January 2010 in “International Journal of Pediatric Endocrinology” NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
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
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
3 citations
,
August 2025 in “Cell” Fibroblast bioelectric signaling can promote hair growth and may help treat hair loss.