3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
32 citations
,
January 2007 in “KARGER eBooks” Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
June 2020 in “Annals of the Rheumatic Diseases” Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
December 2025 in “Frontiers in Medicine” ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
51 citations
,
June 2021 in “Signal Transduction and Targeted Therapy” The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.
46 citations
,
September 2011 in “Journal of Endocrinology” Natural 5α-reduced glucocorticoids might be anti-inflammatory with fewer side effects than current options.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
2 citations
,
January 2021 in “Case reports in endocrinology” The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
March 2026 in “Nature Communications” Genetic factors, skin barrier, immune function, and obesity influence risk of fungal skin infections.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
January 2019 in “Springer Reference Medizin” Follicle Stimulating Hormone is important for fertility.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
1 citations
,
February 2021 in “Scholars international journal of anatomy and physiology” Different forms of FGF5 either promote or inhibit hair growth.
50 citations
,
September 2016 in “The Journal of Clinical Endocrinology and Metabolism” Finasteride for hair loss may cause persistent sexual symptoms, depression, anxiety, and lower quality of life.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
1540 citations
,
October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
1308 citations
,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
144 citations
,
August 2019 in “Cells” The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
113 citations
,
March 2018 in “Biological reviews/Biological reviews of the Cambridge Philosophical Society” Animals that change color with the seasons mainly do so in response to daylight changes, but climate change is causing camouflage problems that may require evolutionary changes.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
103 citations
,
March 2011 in “PLoS Biology” Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
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.