29 citations,
November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
23 citations,
December 2021 in “Frontiers in Immunology” IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
2 citations,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
14 citations,
October 2020 in “Scientific reports” Hair greying is linked to reduced ATM protein in hair cells, which protects against stress and damage.
13 citations,
June 1989 in “Pediatric clinics of North America/The Pediatric clinics of North America” The conclusion is that young women with excessive hair growth should be quickly tested for hormonal issues and treated to improve their social well-being.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
66 citations,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
179 citations,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
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.
24 citations,
December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
7 citations,
July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
1 citations,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
50 citations,
January 2016 in “The FEBS journal” RANK is a key target in breast cancer treatment due to its role in tumor growth and bone metastasis.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
1 citations,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
4025 citations,
December 2003 in “Human Reproduction” The 2003 consensus updated PCOS diagnosis criteria and linked PCOS to higher risks of diabetes and heart problems, recommending lifestyle changes to lower these risks.
9 citations,
April 2023 in “Frontiers in immunology” New technologies help us better understand how skin microbes affect skin diseases.
50 citations,
March 2021 in “Journal of investigational allergology & clinical immunology” Dupilumab is being tested for many new skin, respiratory, and gastrointestinal conditions.
35 citations,
May 2022 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Androgens like testosterone are important hormones for both men and women, made differently in each sex and affecting the body by regulating genes and quick interactions with cell components.
24 citations,
October 2017 in “Biomolecules” Some growth factors, while important for normal body functions, can cause diseases when not regulated properly.
136 citations,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
375 citations,
June 2013 in “Biochimica et biophysica acta. Molecular cell research” Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
30 citations,
November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
1 citations,
September 2023 in “Molecules (Basel. Online)” Plant sterols have health benefits like lowering cholesterol, but more research is needed to understand their effects and improve their extraction and sustainability.
1 citations,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.