478 citations
,
September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
11 citations
,
February 2011 in “International Journal of Molecular Sciences” Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.
68 citations
,
April 2014 in “Journal of Investigative Dermatology” Trichohyalin-like proteins are essential for the development of skin structures like hair, nails, and feathers.
1 citations
,
January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
2 citations
,
January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
27 citations
,
May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
122 citations
,
July 1994 in “Journal of Investigative Dermatology”
11 citations
,
August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
April 2011 in “The FASEB Journal” Profilin1 speeds up wound healing.
April 2023 in “Journal of Investigative Dermatology” MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
35 citations
,
January 2011 in “Journal of Biological Chemistry” sPLA2-X is crucial for normal hair growth and follicle health.
8 citations
,
August 1987 in “The Journal of Dermatology” BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.
25 citations
,
October 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Mouse profilaggrin helps in skin cell differentiation and may be involved in calcium signaling.
41 citations
,
January 2001 in “Journal of Investigative Dermatology” June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
1 citations
,
October 2023 in “PROTOPLASMA”
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
41 citations
,
April 2009 in “Journal of comparative neurology” P2X3-IR fibers are widespread in rat skin and likely help detect pain.
28 citations
,
June 2021 in “Frontiers in immunology” A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.
26 citations
,
December 1990 in “Journal of Biological Chemistry” Two specific genes are more active during hair growth in mice.
11 citations
,
July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
April 2017 in “Journal of Investigative Dermatology” HPH-15, a new compound, effectively reduces skin fibrosis in experiments without causing harm.
98 citations
,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.