1 citations,
March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
Finding functions for unknown GPCRs is hard but key for making new drugs.
1 citations,
May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
Blocking the Mitochondrial Pyruvate Carrier causes stress in hair follicles, which can be reduced by an ISR inhibitor.
January 2024 in “International Journal of Dermatology Venereology and Leprosy Sciences” Patients with acne vulgaris have lower serum irisin levels.
November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
October 2023 in “International Journal of Science and Research (IJSR)” Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Too much β-catenin activity can mess up the development of mammary glands and make them more like hair follicles.
May 2022 in “Gastroenterology” Targeting NETs may help reduce fibrosis in Crohn's disease.
Wild African goats have genetic adaptations for surviving harsh desert conditions.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Gene therapy in mice increased lifespan and improved health without causing cancer.
December 2020 in “Current Sexual Health Reports” Finasteride can have lasting negative effects on brain function and behavior by disrupting neurosteroid production.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
January 2018 in “Stem cell biology and regenerative medicine” The nucleus is key in controlling skin growth and repair by coordinating signals, gene regulators, and epigenetic changes.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
April 2015 in “Andrology” HNG may help prevent the negative effects of chemotherapy on sperm production and white blood cell counts.
November 2014 in “Elsevier eBooks” Gene mutations can cause problems in male genital development.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
Hair follicles can be used to quickly assess drug effects in cancer treatment.
May 2009 in “The American Journal of Dermatopathology” Mast cells play a significant role in hair loss conditions like male pattern hair loss and alopecia areata.
January 2009 in “Springer eBooks” The document concludes that managing skin conditions during pregnancy is important and requires specialized care.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
November 2022 in “CARDIOMETRY” A group has developed therapies that show promise for treating cancer and various other conditions.
1 citations,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
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.
September 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.
13 citations,
April 2019 in “iScience” EGFR helps control how hair grows and forms without needing p53 protein.
3 citations,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
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.