188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
33 citations
,
October 2018 in “BMJ Case Reports” Aggressive treatment in young patients with certain drug reactions may lead to multiple autoimmune diseases later.
8 citations
,
July 2024 in “Journal of Advanced Research” CDK inhibitors may help treat ARDS and psoriasis but need more testing for safety and effectiveness.
4 citations
,
October 2022 in “Current Urology” Platelet-rich plasma shows promise in reducing pain for bladder pain syndrome.
1 citations
,
February 2025 in “Journal of the Neurological Sciences” Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
January 2025 in “Case Reports in Oncological Medicine” Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
May 2023 in “Clinical and translational neuroscience” Tailored neurorehabilitation programs improve life quality for post-COVID-19 patients.
13 citations
,
March 2012 in “The American Journal of Surgery” Modified laparoscopic sleeve gastrectomy effectively controls diabetes and treats obesity with minimal complications.
9 citations
,
September 2022 in “Journal of Clinical Investigation” Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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.
1 citations
,
January 2023 in “Pediatric Dermatology” Early diagnosis and teamwork are crucial for managing ILVASC effectively.
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.
222 citations
,
August 2014 in “Cell Metabolism” Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
79 citations
,
January 2002 in “Nucleic Acids Research” BMP-2 activates the Dlx3 gene in mouse skin cells, important for hair and skin development.
49 citations
,
January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
22 citations
,
June 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
15 citations
,
December 2021 in “Pharmaceutics” The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
August 2024 in “Clinical Case Reports” Pilomatricoma is a rare, benign skin tumor that requires surgical removal for best results.
February 2009 in “RePub (Erasmus University Rotterdam)” Androgen receptor activity is influenced by hormones, co-factors, modifications, and mutations.
2 citations
,
December 2017 in “Korean Journal of Medicinal Crop Science” Houttuynia cordata extract promotes hair growth and could be useful in hair care products.
166 citations
,
September 2011 in “The Journal of Cell Biology” p63 controls Satb1 to help skin develop properly.
146 citations
,
February 2012 in “Journal of Clinical Investigation” Blocking Hedgehog signaling offers new treatment options for advanced basal cell carcinoma.
71 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Edar signaling is crucial for proper hair follicle development and function.
55 citations
,
January 2020 in “Advances in experimental medicine and biology” Vitamin D and its receptor may help prevent skin cancer.
38 citations
,
April 2017 in “PLOS Genetics” GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
23 citations
,
November 2019 in “International Journal of Molecular Sciences” Adipose-derived stem cells can help repair tissue in lipodystrophy patients.
22 citations
,
July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.