179 citations,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
45 citations,
December 2006 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Vitamin D and its receptor are essential for hair growth, cell regulation, immune function, and heart health.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
1 citations,
June 2023 in “Medicina” People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
6 citations,
July 2019 in “Experimental Dermatology” Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.
2 citations,
November 2023 in “Biomolecules” WNT signaling is crucial for skin development and healing.
1 citations,
November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
36 citations,
February 2007 in “Journal of biological chemistry/The Journal of biological chemistry” The vitamin D receptor can work without its usual activating molecule.
21 citations,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
4 citations,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
October 2022 in “Springer eBooks” The document concludes that personalized hormonal treatments are important for transgender individuals and more research is needed for non-binary treatments.
May 2023 in “IntechOpen eBooks” More research is needed to understand how testosterone is maintained in adult males.
April 2023 in “Clinical Chemistry and Laboratory Medicine” The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
4 citations,
January 2022 in “Open Health” Eating healthy, exercising, and changing behaviors are the best first steps to treat Polycystic Ovary Syndrome (PCOS).
3 citations,
January 2013 Hypothyroidism in dogs is usually caused by immune system issues or gland atrophy, affects middle-aged purebreds most, and is treatable with medication.
May 2017 in “American Society of Health-System Pharmacists eBooks” 55 citations,
October 2014 in “Development” Wnt, Eda, and Shh pathways are crucial for different stages of sweat gland development in mice.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
3 citations,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
59 citations,
May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
38 citations,
October 2006 in “Fertility and Sterility” The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
35 citations,
June 2005 in “The Milbank Quarterly” The conclusion is that formalizing how past decisions influence current health technology assessments could improve the credibility and defense of coverage decisions.
30 citations,
July 2004 in “Fertility and Sterility” Amenorrhea is when a woman doesn't have periods, with primary amenorrhea starting by age 15 or within five years of breast development, and secondary amenorrhea when periods stop for three months. It affects 3-4% of women not pregnant, breastfeeding, or in menopause, mainly due to polycystic ovary syndrome, hypothalamic amenorrhea, hyperprolactinemia, and ovarian failure.
21 citations,
September 2004 in “Fertility and Sterility” Amenorrhea, or the absence of periods, should be evaluated by age 15 or within five years of early breast development, and is most commonly caused by conditions like polycystic ovary syndrome and hypothalamic amenorrhea.
10 citations,
January 2014 in “Endocrinology & metabolic syndrome” PCOS is a long-term condition that needs more research for better understanding and treatment.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.