16 citations
,
February 2005 in “British journal of dermatology/British journal of dermatology, Supplement” Lack of Vitamin D receptor changes skin structure and increases certain immune cells in the skin.
12 citations
,
January 2016 in “Journal of Assisted Reproduction and Genetics” Certain gene variations are linked to higher male hormone levels in Chinese women with PCOS and insulin resistance.
11 citations
,
August 2018 in “Facial Plastic Surgery Clinics of North America” Adipose-derived stem cells show potential for skin rejuvenation and wound healing but require more research to overcome challenges and ensure safety.
8 citations
,
March 2010 in “Gynecological Endocrinology” Free Testosterone Index, bioavailable testosterone, and androstenedione are the most accurate for diagnosing excess male hormones in PCOS.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
5 citations
,
October 2021 in “Meditsinskiy sovet = Medical Council” PCOS treatment should be personalized based on its type and the patient's reproductive goals.
2 citations
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
1 citations
,
April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
Innate lymphoid cells type 1 may contribute to alopecia areata by damaging hair follicles.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
May 2009 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” PPARgamma is crucial for healthy hair follicles, and its loss causes scarring alopecia.
11 citations
,
June 2019 in “International journal of gynaecology and obstetrics” Polycystic ovary syndrome (PCOS) is more common in urban areas, possibly due to lifestyle and diet, and ignoring it can lead to serious health issues.
April 2026 in “Diagnostics” PRP treatment improves chronic tendinopathy, and imaging biomarkers can track tendon changes.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
January 2025 in “Journal of Education Health and Sport” Metformin helps manage PCOS by improving metabolism and ovulation, but should be part of a personalized treatment plan.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
2 citations
,
May 2023 in “Veterinary Pathology” Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
14 citations
,
July 2021 in “Bioinformatics” rPanglaoDB helps study rare cell types by merging RNA data, showing fibrocytes aid in healing.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
April 2017 in “Journal of Investigative Dermatology” Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
5 citations
,
July 2022 in “Journal of Investigative Dermatology” Aged skin heals slower due to more inflammation and disrupted cell communication.
28 citations
,
October 2013 in “Journal of The American Academy of Dermatology” Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.
18 citations
,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.