7 citations,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
7 citations,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
5 citations,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
5 citations,
January 2016 in “Dermatology” No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
4 citations,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
4 citations,
February 2015 in “Journal of Clinical Laboratory Analysis” A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
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.
3 citations,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
1 citations,
February 2021 in “Scholars international journal of anatomy and physiology” Different forms of FGF5 either promote or inhibit hair growth.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
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.
989 citations,
August 2007 in “The Lancet” PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.
759 citations,
February 2009 in “Current Biology” Hair follicles are complex, dynamic mini-organs that help us understand cell growth, death, migration, and differentiation, as well as tissue regeneration and tumor biology.
688 citations,
June 2007 in “Cell Stem Cell” Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
506 citations,
January 2012 in “Molecular and Cellular Endocrinology” Melatonin affects many body functions beyond sleep by interacting with specific receptors in various tissues.
451 citations,
March 2005 in “Endocrine Reviews” The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
411 citations,
April 2010 in “Gastroenterology” Targeting colon cancer stem cells might lead to better treatment results.
403 citations,
November 2005 in “Journal of Endocrinology” Dehydroepiandrosterone (DHEA) is a prohormone important for producing sex steroids and has potential health benefits.
402 citations,
August 2011 in “Cancer research” Prostate cancer cells can make their own androgens to activate the androgen receptor, and treatments like abiraterone may increase this ability, suggesting new therapies should target the entire steroid-making pathway.
349 citations,
January 2005 in “The FASEB journal” Human skin can make serotonin and melatonin, which help protect and maintain it.
336 citations,
August 2015 in “European Journal of Epidemiology” The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
305 citations,
February 2007 in “Hormone and metabolic research” Human skin makes sexual hormones that affect hair growth, skin health, and healing; too much can cause acne and hair loss, while treatments can manage these conditions.
300 citations,
August 2012 in “Seminars in Cell & Developmental Biology” The conclusion is that certain cell interactions and signals are crucial for hair growth and regeneration.
291 citations,
April 2010 in “Gastroenterology” Certain proteins, Lgr5 and Lgr6, are important markers of adult stem cells and are involved in tissue repair and cancer development.
277 citations,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
266 citations,
November 2013 in “European Journal of Epidemiology” The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
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.
252 citations,
January 2008 in “Trends in Endocrinology and Metabolism” Melatonin in the skin helps protect against damage from stress and UV rays, and could be used to treat certain skin conditions.
249 citations,
April 2002 in “The FASEB journal” Human skin can make serotonin and melatonin.
233 citations,
November 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Creating stronger blockers for skin enzymes might lead to better treatment for conditions like acne and excessive hair growth.