260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
March 2013 in “Pigment Cell & Melanoma Research” A gene called Taqpep affects cat coat patterns like stripes and blotches.
474 citations
,
January 2012 in “Chemistry & biology” Proteasome inhibitors are promising treatments for various cancers, autoimmune diseases, and other conditions.
40 citations
,
September 2010 in “Journal of Biological Chemistry” Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
8 citations
,
June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
12 citations
,
February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
22 citations
,
January 1990 118 citations
,
June 1993 in “Journal of Biological Chemistry” Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
May 2023 in “Skin research and technology” A DNA aptamer helps promote hair growth by enhancing a key cell growth signal in hair follicle cells.
26 citations
,
February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
4 citations
,
June 2024 in “The Kaohsiung Journal of Medical Sciences” Atg5 can promote tumors when autophagy is deficient but suppresses them under normal conditions.
1 citations
,
November 2018 in “immuneACCESS” Expanded CD8+ T cells are linked to Alopecia Areata and may cause relapse after treatment.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
124 citations
,
November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
19 citations
,
May 2001 in “Endocrinology” Mrp3 may aid in wound healing and hair growth.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
August 1994 in “Molecular Endocrinology” Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
7 citations
,
March 2020 in “PloS one” α-parvin is necessary for skin and hair growth and for the correct orientation of skin cells.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Armadillo Repeat Only proteins are essential for proper plant growth and response by regulating calcium channels.
26 citations
,
March 1995 in “Differentiation” A rabbit gene important for hair development was identified and detailed.
23 citations
,
December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
37 citations
,
November 2007 in “Journal of Biological Chemistry” Ku80 is a key receptor for Thymosin β4, affecting cell migration and wound healing.
January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.