189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
180 citations,
January 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Vitamin D Receptor is crucial for normal skin and hair growth.
170 citations,
November 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin can heal wounds without hair follicle stem cells, but it takes a bit longer.
166 citations,
February 2005 in “Behavioural brain research” Vitamin D receptor knockout mice have significant motor impairments but no cognitive deficits.
153 citations,
June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
114 citations,
January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
103 citations,
December 2021 in “Journal of biological rhythms” Shift work disrupts the body's natural clock, leading to health problems.
91 citations,
February 2009 in “Journal of biological chemistry/The Journal of biological chemistry” DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
65 citations,
August 2016 in “Metabolic brain disease” Children with autism have lower levels of essential and toxic trace elements in their hair.
55 citations,
November 2010 in “Development” Hair follicles in mutant mice self-organize into ordered patterns within a week.
42 citations,
December 2011 in “The journal of immunology/The Journal of immunology” RANKL causes lymph nodes to grow by making certain cells multiply.
39 citations,
September 2007 in “BMC developmental biology” Neuregulin3 affects cell development in the skin and mammary glands.
37 citations,
May 2018 in “Frontiers in physiology” Certain RNA molecules are important for the development of wool follicles in sheep.
31 citations,
July 2012 in “Journal of Lipid Research” ACBP is crucial for healthy skin in mice.
30 citations,
January 2023 in “EFSA journal” Adults should not consume more than 255 micrograms of selenium per day to avoid risk of hair loss and other side effects.
25 citations,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
19 citations,
September 2020 in “General and comparative endocrinology” Hair cortisol is a reliable stress indicator in cattle but may not be valid for pigs.
15 citations,
November 2020 in “Physiological reports” Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
10 citations,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
9 citations,
September 2013 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Matriptase is highly active in hair follicles and sebaceous glands, especially during hair growth phases.
7 citations,
January 2023 in “Frontiers in Cell and Developmental Biology” Caspases are enzymes important for both cell death and various non-lethal cell functions, affecting head development and hair growth, with different caspases playing specific roles.
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.
6 citations,
October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
5 citations,
November 2022 in “Genetics selection evolution” Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
5 citations,
December 2018 in “The Journal of clinical psychiatry/The journal of clinical psychiatry” Tamsulosin may slightly increase dementia risk compared to other treatments for enlarged prostate.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.