November 2022 in “Journal of Investigative Dermatology” Dynlt3 is important for melanosome transport and skin coloration.
25 citations
,
May 2016 in “Molecular biology of the cell” A protein in plants needs to bind two lipids to help with root hair growth, and this process is similar across different plant species.
March 2026 in “Preprints.org” Plerixafor may help treat pigmentation disorders by promoting skin repigmentation.
58 citations
,
February 2013 in “Journal of Biological Chemistry” LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.
161 citations
,
June 1993 in “Journal of Biological Chemistry” Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
6 citations
,
April 2021 in “NAR Genomics and Bioinformatics” PolyQ repeats in neural proteins evolve together, affecting brain function and disease.
October 2025 in “Proceedings of the National Academy of Sciences” Phospholipids help plant proteins move by regulating receptor interactions.
32 citations
,
August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
13 citations
,
December 2005 in “Traffic” Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
137 citations
,
October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
7 citations
,
March 2012 in “Journal of Investigative Dermatology” Some thymic peptides can increase human hair growth, while others may inhibit it.
2 citations
,
January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
1 citations
,
January 2008
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
101 citations
,
June 2003 in “The EMBO Journal” Phospholipase Cδ1 is crucial for normal skin and hair development.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
February 2026 in “Biomedicine & Pharmacotherapy” MLPH helps hair grow by activating IGF-1 signaling in hair cells.
1 citations
,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
7 citations
,
March 2020 in “PloS one” α-parvin is necessary for skin and hair growth and for the correct orientation of skin cells.
11 citations
,
November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
November 2022 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Phosphatidylinositol 4-kinases are crucial for root growth, defense, and immunity in Arabidopsis thaliana.
53 citations
,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
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.