9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
1 citations
,
October 2025 in “Biology of Sex Differences” Gender and social factors, not just biology, affect COVID-19 death rates.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
December 2022 in “Journal of neurodevelopmental disorders” Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
3 citations
,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
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.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
1 citations
,
November 2005 in “Journal of Andrology” The meeting highlighted promising genetic treatments for male fertility issues but noted concerns about certain cancer risks and ICSI safety.
128 citations
,
January 2023 in “Frontiers in Endocrinology” Individualized treatment and support can help most couples with recurrent implantation failure achieve pregnancy.
29 citations
,
June 1998 in “Developmental Biology” More melanoblasts in hair follicles mean better survival and proper hair pigmentation.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
4 citations
,
January 2014 in “Stem Cell Discovery” Stem cells can be reprogrammed for various treatments, but safety and expansion challenges remain.
1 citations
,
January 2025 in “Reproductive Biology and Endocrinology” Cell-free fat extract may boost IVF success in older women with past failures.
March 2026 in “Cell Death Discovery” Targeting the p63 gene could help treat skin diseases.
March 2024 in “Agriculture” CRISPR/Cas9 gene-editing shows promise for improving sheep and goat breeding but faces challenges with efficiency and accuracy.
March 2023 in “Cellular Molecular and Biomedical Reports” The study found that heart disease is common in people with PCOS and that being overweight is a major risk factor; lifestyle changes and medication are important for management.
79 citations
,
February 2009 in “Human Genetics” 41 citations
,
July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
30 citations
,
July 2023 in “Journal of Cutaneous Medicine and Surgery” Understanding sex and gender differences can improve personalized dermatology care.
25 citations
,
July 2015 in “EMBO Reports” Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
3 citations
,
August 2022 in “International Journal of Molecular Sciences” TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
2 citations
,
July 2021 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
December 2025 in “Pharmaceutics” Personalized skin rejuvenation using genomics shows promise but needs more research.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
February 2022 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair shaft disorders, often due to genetics or environment, lack specific treatments but can be managed with gentle hair care and may improve with age or topical treatments.
16 citations
,
February 2022 in “Science Advances” Follistatin and LIN28B together improve the ability of inner ear cells in mice to regenerate into hearing cells.