January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
42 citations
,
February 2019 in “Circulation” Targeting ATM could help manage heart cell enlargement due to pressure overload.
34 citations
,
January 2004 in “Genomics” A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
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.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
32 citations
,
November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
Defective nuclear transport may cause gene expression changes in Progeria.
1 citations
,
September 1986 in “Journal of the Forensic Science Society” Hair root sheaths can be used to accurately analyze genetic markers.
5 citations
,
June 2008 in “British Journal of Dermatology” 49 citations
,
May 1974 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” Transamidases are present in the epidermis but their exact role is unclear.
56 citations
,
December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
23 citations
,
December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
87 citations
,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
35 citations
,
September 2012 in “PloS one” Two distinct pathways direct proteins to vacuoles in Arabidopsis, affecting root hair growth and protein targeting.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
115 citations
,
December 2019 in “The Plant Journal” Nitrate helps plants manage phosphate uptake and starvation responses through NIGT1 proteins.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
26 citations
,
February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
15 citations
,
June 2011 in “British Journal of Dermatology” No link found between aromatase gene and female hair loss.
27 citations
,
September 1999 in “Journal of Investigative Dermatology” Human skin cells contain Protease Nexin-1, and male hormones can decrease its levels, potentially affecting hair growth.
8 citations
,
January 2021 in “Bulletin of Experimental Biology and Medicine” ATP and IL-10 levels in hair follicles relate to follicle length and hair growth, with differences in alopecia patients.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.