June 2006 in “British Journal of Dermatology” Lower adrenal hormone levels may cause hair loss in postmenopausal women, certain patterns help diagnose nail cancer, and a gene variant linked to higher skin cancer risk in kidney transplant patients suggests monitoring folate levels.
May 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
5 citations,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
June 2021 in “The American Journal of the Medical Sciences” January 2019 in “Indian Journal of Paediatric Dermatology”
1 citations,
November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
114 citations,
January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
41 citations,
May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
13 citations,
September 2022 in “Biomolecules” The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
11 citations,
August 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
8 citations,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
8 citations,
March 2020 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
6 citations,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
4 citations,
December 2022 in “Frontiers in Endocrinology” Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
3 citations,
January 2022 in “Precision medicine and clinical omics” Beta-sitosterol and stigmasterol might help prevent hair loss by blocking a specific enzyme.
2 citations,
May 2023 in “International Journal of Molecular Sciences” The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
2 citations,
September 2021 in “Orphanet Journal of Rare Diseases” People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
1 citations,
July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
1 citations,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
February 2024 in “International journal of molecular sciences” Type 3 Innate Lymphoid Cells help maintain skin health and balance, and are involved in skin diseases and healing.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
October 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
September 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
January 2021 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
March 2009 in “International Journal of Dermatology” The androgen receptor gene doesn't help identify women likely to have female pattern hair loss.
2 citations,
August 2015 in “Biochemical Systematics and Ecology” Different types of Armillaria fungus have a high genetic variety when partnering with Polyporus umbellatus mushrooms in China.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
25 citations,
May 2006 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
3 citations,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.