13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
June 2025 in “Preprints.org” EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
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.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
January 2015 in “Hair transplant forum international” Female pattern hair loss is different from male pattern hair loss and has unclear genetic causes.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
49 citations
,
March 2017 in “PubMed” Enhancers and super-enhancers are key in controlling specific gene activity and can play a role in cancer development.
26 citations
,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
3 citations
,
April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
2 citations
,
May 2023 in “Current Nutrition Reports” Eating a Mediterranean diet and taking certain supplements may improve symptoms of PCOS.
1 citations
,
October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
December 2025 in “PLOS Global Public Health” Women with PCOS in Bangladesh face significant mental health issues, especially in rural areas.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
14 citations
,
November 2024 in “International Journal of Molecular Sciences” YAP and TAZ proteins control skin cell growth and repair.
39 citations
,
November 2021 in “Clinical Endocrinology” Testosterone replacement is recommended for men with low testosterone levels and symptoms of hypogonadism.
16 citations
,
December 2021 in “Frontiers in Endocrinology” Sex hormones may affect COVID-19 severity, with estrogen possibly reducing risk and testosterone potentially increasing it.
15 citations
,
March 2015 in “PloS one” Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
4 citations
,
January 2014 in “Stem Cell Discovery” Stem cells can be reprogrammed for various treatments, but safety and expansion challenges remain.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
August 2024 in “Clinical Cosmetic and Investigational Dermatology” Hypothyroidism may cause certain types of hair loss.
2 citations
,
November 2024 in “PLoS ONE” Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
414 citations
,
August 2005 in “Nature” Activating TERT in mice skin boosts hair growth by waking up hair follicle stem cells.