48 citations
,
June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
20 citations
,
July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
13 citations
,
June 2017 in “Biochimie open” All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
2 citations
,
April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
46 citations
,
February 2016 in “Experimental Dermatology” Genes play a significant role in male-pattern baldness, and understanding them could lead to new treatments and insights into related health issues.
40 citations
,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
8 citations
,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
November 2024 in “Forensic Sciences” Understanding the Y chromosome is key to male health, aging, and developing diagnostic tools.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
April 2011 in “Vestnik dermatologii i venerologii” Certain gene variations and irregular X chromosome activity may contribute to hair loss in women who can have children.
December 2010 in “Vestnik dermatologii i venerologii” Certain genes and X chromosome patterns may significantly contribute to the development of hair loss.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
8 citations
,
June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
4 citations
,
July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
January 2026 in “Immunological Reviews” Females generally have stronger immune responses than males due to the X chromosome.
54 citations
,
November 1994 in “Differentiation” Trichohyalin is found in non-hair tissues and works with filaggrin in certain skin areas and conditions.
76 citations
,
January 1998 in “Mammalian Genome” 143 citations
,
January 2007 in “The American Journal of Human Genetics” Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
1 citations
,
November 2025 in “Aging Cell” EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
717 citations
,
June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
22 citations
,
December 2016 in “PloS one” A specific protein in chicken embryos links early skin layers to feather development.
41 citations
,
January 2022 in “Clinical Immunology” Females are more prone to lupus and arthritis due to X chromosome factors.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
52 citations
,
June 2009 in “Current Opinion in Endocrinology, Diabetes and Obesity” The document concludes that hair transplantation and gene therapy may be important for future hair loss treatment.
40 citations
,
November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” S100A3 protein is crucial for hair shaft formation in mice.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
8 citations
,
March 2020 in “Frontiers in Cell and Developmental Biology” Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
66 citations
,
January 2001 in “Vitamins and hormones” Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
48 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” Hair growth is controlled by specific gene clusters and proteins, and cysteine affects hair gene expression in sheep.