71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
12 citations
,
May 2003 in “Journal of dermatological science” Hsc70 protein may influence hair growth by responding to androgens.
2 citations
,
July 1994 in “Journal of Dermatological Science” Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
191 citations
,
September 2011 in “Cell stem cell” Hair follicle stem cells use specific chromatin changes to control their growth and differentiation.
1 citations
,
February 2024 in “Journal of the European Academy of Dermatology and Venereology” Certain genetic factors may contribute to frontal fibrosing alopecia in Brazil.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
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.
4 citations
,
August 2023 in “Journal of Investigative Dermatology” Certain genes influence the direction of hair whorls on the scalp.
42 citations
,
July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
February 2009 in “Journal of The American Academy of Dermatology” Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
49 citations
,
March 2004 in “Journal of Investigative Dermatology” The hHa7 gene is regulated by androgens in certain body hair, not scalp hair.
3 citations
,
October 1994 in “Journal of Dermatological Science” The new antibody, TYHF-1, specifically targets certain hair-related structures.
1 citations
,
February 2009 in “Journal of Investigative Dermatology” Lipase H is important for hair follicle function and shaping hair fibers.
5 citations
,
August 2021 in “Experimental dermatology” Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
January 2000 in “Zhongguo yixue wulixue zazhi” Different human hair keratin types have unique structures that affect how they dissolve and can be used to create self-tendons.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
1540 citations
,
October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
1398 citations
,
May 2008 in “Histochemistry and Cell Biology” Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
1308 citations
,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
1160 citations
,
November 2018 in “Physiological Reviews” The document concludes that better targeted treatments are needed for wound healing, and single-cell technologies may improve cell-based therapies.
1113 citations
,
August 1999 in “The New England Journal of Medicine” Hair follicle biology advancements may lead to better hair growth disorder treatments.
989 citations
,
August 2007 in “The Lancet” PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.
855 citations
,
June 2009 in “The Journal of Clinical Endocrinology & Metabolism” The guideline recommends mental health involvement in diagnosing gender identity disorder and outlines hormone and surgical treatment protocols, emphasizing safety, informed consent, and long-term monitoring.
815 citations
,
April 2010 in “The Journal of Clinical Endocrinology & Metabolism” Women with PCOS should be screened for heart disease risk and manage their health to prevent it.
767 citations
,
September 2016 in “Human Reproduction” Polycystic ovary syndrome affects about 6-10% of women, with varying symptoms and the need for standardized global definitions.
471 citations
,
October 2012 in “Cellular and Molecular Life Sciences” Understanding developmental pathways can improve wound healing treatments.