15 citations,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
38 citations,
May 1971 in “Clinical genetics” A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
82 citations,
July 2012 in “Brain pathology” High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
12 citations,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.
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.
12 citations,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
December 2010 in “Vestnik dermatologii i venerologii” Certain genes and X chromosome patterns may significantly contribute to the development of hair loss.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
17 citations,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
9 citations,
March 2009 in “Psychoneuroendocrinology” Certain gene variations are linked to better memory in healthy Chinese women.
6 citations,
September 2019 in “Archives of Dermatological Research” Found 32 genes linked to male baldness, affecting hair growth and stress-related pathways.
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.
854 citations,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
6 citations,
January 2010 in “Neoplasma” Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
41 citations,
January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
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.
195 citations,
July 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
April 2017 in “Journal of Investigative Dermatology” The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
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.
1 citations,
April 2024 in “Science Advances” Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
9 citations,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
36 citations,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
12 citations,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
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.
March 2023 in “International journal of trichology” Six genetic conditions are often linked to complete scalp hair loss in children.
2 citations,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
29 citations,
November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
10 citations,
January 2012 in “Lupus” NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
2 citations,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
3 citations,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.