25 citations,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
10 citations,
May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
93 citations,
June 2001 in “The Journal of Clinical Endocrinology and Metabolism” Certain genetic variations in the AR and ERβ genes can affect androgen levels in women.
62 citations,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
13 citations,
November 2013 in “Journal of Endocrinology/Journal of endocrinology” Vitamin D receptor helps control hair growth genes in skin cells.
1 citations,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
8 citations,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
76 citations,
June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
15 citations,
February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
3 citations,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
236 citations,
July 2001 in “Trends in Molecular Medicine” Future hair loss treatments should aim to extend hair growth, reactivate resting follicles, reverse shrinkage, and possibly create new follicles, with gene therapy showing promise.
54 citations,
November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
30 citations,
April 2010 in “Cell Cycle” The gene p53 is crucial for removing damaged cells to allow for healthy tissue renewal.
16 citations,
December 2020 in “PloS one” Researchers found WNT10A to be a key gene in developing goat hair follicles.
14 citations,
June 2022 in “BMC genomics” Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
14 citations,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
11 citations,
July 2015 in “Gene” DHT affects bone growth by altering gene activity in osteoblasts, potentially complicating steroid use.
9 citations,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
6 citations,
July 2017 in “Biochemical and Biophysical Research Communications” The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.
2 citations,
December 2022 in “International journal of molecular sciences” Plucked hairs can be used instead of skin biopsies to study hair traits because they contain specific cells related to hair.
2 citations,
October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
2 citations,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
82 citations,
September 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
29 citations,
July 2013 in “The Journal of Sexual Medicine” Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
21 citations,
November 2010 in “Journal of molecular medicine” FoxN1 gene is essential for proper thymus structure and preventing hair loss.
11 citations,
June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.