35 citations,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
75 citations,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
52 citations,
October 2010 in “Antiviral Therapy” New treatments for Hepatitis C show promise but need more research to confirm their safety and effectiveness for clinical use.
36 citations,
October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
32 citations,
March 2015 in “The Journal of Clinical Endocrinology & Metabolism” Alopecia areata is linked to thyroid autoimmunity but not type 1 diabetes.
4 citations,
March 2018 in “PloS one” Men with less sun-sensitive skin have lower PSA levels, while men with more sun-sensitive skin have higher PSA levels.
May 2018 in “European Journal of Dermatology” Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
May 2015 in “Journal of Investigative Dermatology” Wnt-3a helps grow more skin stem cells, which could lead to new hair loss treatments.
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.
378 citations,
November 2011 in “Human reproduction update” Experts recommend using evidence-based methods to diagnose and treat hirsutism, focusing on symptoms and underlying causes.
308 citations,
December 2018 in “PLOS Genetics” The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
284 citations,
February 2008 in “Pediatrics” Chemicals and body size might change when puberty starts and progresses, but more research is needed to confirm this.
277 citations,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
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.
199 citations,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
161 citations,
August 2013 in “Journal of experimental botany” Certain inhibitors slow down plant growth by causing early cell specialization without changing the cell development pattern.
138 citations,
June 2012 in “Genes & Development” Sonic hedgehog signaling is crucial for hair growth and maintaining hair follicle identity.
125 citations,
September 2019 in “Journal of Clinical Immunology” Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
96 citations,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
86 citations,
October 2017 in “Clinics in Dermatology” Older adults have a high rate of skin cancers like basal cell carcinoma and melanoma, mainly due to UV exposure and age.
80 citations,
April 2011 in “Plant physiology” White lupin uses specific genes to grow root hairs and access phosphorus when it's scarce.
49 citations,
October 2009 in “Cancer research” Disrupting Stat3 in hair follicle stem cells greatly reduces skin tumor formation.
48 citations,
January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
48 citations,
April 2010 in “Journal of the European Academy of Dermatology and Venereology” Men are more likely to get infectious skin diseases, while women are more prone to autoimmune and pigment-related skin conditions, influenced by biological and environmental factors.
47 citations,
May 2020 in “Cardiovascular Research” The document concludes that future heart disease research should account for sex-specific differences to improve diagnosis, treatment, and outcomes.
45 citations,
July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
35 citations,
January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” CD98hc's role in skin health decreases with age.
32 citations,
March 2014 in “PLOS ONE” Mice lacking fibromodulin have disrupted healing patterns, leading to abnormal skin repair and scarring.
32 citations,
February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
28 citations,
May 2020 in “BMC plant biology” The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.