August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
33 citations,
March 2006 in “Seminars in cutaneous medicine and surgery” The document explains how to identify different hair problems using a microscope.
4 citations,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
5 citations,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
23 citations,
August 2018 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
December 2016 in “Springer eBooks” A 45-year-old woman with autoimmune diseases experienced patchy hair loss due to alopecia areata, which has no cure but can be treated, with varying success.
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.
8 citations,
March 2015 in “Neuromuscular Disorders” People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
46 citations,
December 2003 in “Advances in neonatal care” Assessing newborn scalp hair can reveal important health information.
22 citations,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
19 citations,
September 2019 in “PLOS genetics” Telomere damage affects skin and hair follicle stem cells by messing up important growth signals.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
195 citations,
November 2019 in “Clinica Chimica Acta” High levels of male hormones, insulin resistance, and obesity are closely linked and worsen polycystic ovary syndrome, but more research is needed to improve treatments.
2 citations,
May 2006 in “Women's Health Medicine” Ovulation disorders are a major cause of infertility and menstrual problems in women.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
8 citations,
July 2012 in “Cambridge University Press eBooks” Androgens can both increase body hair and cause scalp hair loss.
28 citations,
December 2006 in “Clinical lung cancer” Early recognition and management of skin side effects from new cancer therapies can prevent treatment delays.
15 citations,
March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” ACBP is essential for healthy skin and fur by maintaining the skin's barrier function.
13 citations,
January 2012 in “International journal of trichology” The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.
May 1991 in “Current problems in dermatology” Skin issues can indicate immune system problems.
74 citations,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
36 citations,
January 2018 in “Scientific reports” Eating glucoraphanin can help prevent psychosis in offspring whose mothers had immune system activation.
3 citations,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
10 citations,
August 2022 in “International Journal of Molecular Sciences” Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.
16 citations,
August 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” MED1 is essential for normal hair growth and maintaining hair follicle stem cells.
1 citations,
January 2013 in “Elsevier eBooks” The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
52 citations,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
2 citations,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
65 citations,
February 2011 in “Molecular cancer therapeutics” CCT128930 is a promising new drug that effectively targets and inhibits a cancer-related protein, showing potential for cancer treatment.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.