37 citations,
January 2005 in “Clinics in dermatology” Recent progress has been made in understanding inherited hair and nail disorders.
29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
27 citations,
May 2002 in “The Journal of Clinical Endocrinology & Metabolism” Brothers of women with PCOS tend to have higher levels of a hormone called DHEAS, indicating a possible genetic link.
24 citations,
January 2018 in “Indian Journal of Dermatology, Venereology and Leprology” Androgenetic alopecia is mainly caused by genetic factors and increased androgen activity, leading to hair follicle miniaturization.
2 citations,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
1 citations,
May 2023 in “Frontiers in Endocrinology” Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
1 citations,
October 2022 in “Molecular therapy” The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
489 citations,
November 2021 in “Signal Transduction and Targeted Therapy” The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
134 citations,
July 2020 in “Experimental dermatology” Hair follicles are normally protected from the immune system, but when this protection fails, it can cause hair loss in alopecia areata.
65 citations,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
27 citations,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
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.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
13 citations,
April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
12 citations,
March 2022 in “Frontiers in Nutrition” Obesity is linked to various skin conditions and issues, and losing weight can improve these conditions.
12 citations,
January 2021 in “Journal of Investigative Dermatology” Hair follicle studies suggest that maintaining telomere length could help treat hair loss and graying, but it's uncertain if mouse results apply to humans.
8 citations,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
2 citations,
January 2023 in “Journal of Clinical Medicine” People with hair loss conditions may also have thyroid disorders, but more research is needed to understand the connection.
2 citations,
December 2019 in “The Open Dermatology Journal” Linear Discoid Lupus Erythematosus of the scalp can cause hair loss and should be considered in similar cases.
1 citations,
September 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids from stem cells can help study and treat skin issues but face some challenges.
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.
1 citations,
March 2023 in “Nutrients” The conclusion is that obesity should be managed with a slow, balanced approach to diet and exercise, with medication and surgery as additional options, and education and access to care are important.
1 citations,
December 2022 in “Life” Topical corticosteroids are the main treatment for Erosive Pustular Dermatosis, but recurrence is common after stopping treatment.
1 citations,
November 2022 in “Animals” The research found specific genes and pathways that control fur development and color in young American minks.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
1 citations,
November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Experts met to improve care for ichthyosis patients in Spain.
November 2024 in “Medicina” Recognizing scalp symptoms in PRP is crucial for proper diagnosis and treatment.
March 2024 in “Cell communication and signaling” Lack of sleep in mice leads to prostatitis by reducing certain hormones and activating an inflammatory pathway, which can be temporarily fixed with normal sleep.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.