5 citations,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
91 citations,
February 2009 in “Journal of biological chemistry/The Journal of biological chemistry” DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
12 citations,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
8 citations,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
3 citations,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
2 citations,
June 2014 in “مجلة مركز بحوث التقنيات الاحيائية” Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
3 citations,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
11 citations,
July 2015 in “Gene” DHT affects bone growth by altering gene activity in osteoblasts, potentially complicating steroid use.
4 citations,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
3 citations,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
39 citations,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
5 citations,
October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
45 citations,
August 2010 in “Hormone Molecular Biology and Clinical Investigation” Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.
11 citations,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
8 citations,
July 2011 in “Animal science journal” Keratin 33A is a key protein in goat winter coats, especially in high-producing breeds.
2 citations,
November 2022 in “Animal Bioscience” A specific RNA modification in cashmere goats helps activate hair growth-related stem cells.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
5 citations,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
August 2016 in “Journal of Investigative Dermatology” DHT reduces a cell's ability to promote hair growth, while 3D culture without DHT improves it.
21 citations,
November 2010 in “Journal of molecular medicine” FoxN1 gene is essential for proper thymus structure and preventing hair loss.
9 citations,
April 2006 in “American Journal of Pathology” SGK3 is essential for proper hair growth and health.
7 citations,
May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
11 citations,
January 2017 in “Biochemical and biophysical research communications” 1α,25-dihydroxyvitamin D3 directly affects cartilage growth and development.
20 citations,
January 2017 in “Genetica” The methylation of the HOXC8 gene's exon 1 affects cashmere fiber length in goats.