The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
160 citations,
January 2017 in “Development” Blood vessels and specific genes help turn cartilage into bone when bones heal.
418 citations,
September 2012 in “Nature” African spiny mice can regenerate skin, hair, and cartilage, but not muscle, and their unique abilities could be useful for regenerative medicine.
149 citations,
December 2007 in “The Journal of Clinical Endocrinology and Metabolism” Women with PCOS have overall higher body fat, not abnormal fat placement, and more insulin resistance.
100 citations,
September 2016 in “Clinical transplantation/Clinical transplantation.” Voriconazole can cause serious side effects, especially in long-term use.
60 citations,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
56 citations,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
39 citations,
April 2015 in “Regeneration” Lizards can regrow their tails, and studying this process helps understand scar-free healing and limb regeneration.
3 citations,
April 2002 in “The American Journal of Medicine” The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
2 citations,
January 2018 in “Elsevier eBooks” Lipid nanoparticles improve drug delivery through the skin, offering stability, controlled release, and better compatibility with skin.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
April 2023 in “Acta Scientific Orthopaedics” The essay suggests hair loss might be caused by changes in skull bones.
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
1533 citations,
October 2008 in “Endocrine reviews” Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
350 citations,
June 1989 in “The American Journal of Medicine” Itraconazole is potentially effective for treating invasive aspergillosis, but more research is needed.
271 citations,
March 1999 in “Developmental biology” The research shows that a gene called Wnt3 affects hair growth and structure, causing short hair and balding when overactive.
159 citations,
March 2014 in “Journal of The American Academy of Dermatology” Some skin medications are safe during pregnancy and breastfeeding, but others can harm the baby and should be avoided.
155 citations,
August 2003 in “Journal Of Experimental Zoology Part B: Molecular And Developmental Evolution” Understanding hair growth involves complex interactions between molecules and could help treat hair disorders.
144 citations,
August 2019 in “Cells” The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
144 citations,
March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
99 citations,
December 2010 in “Journal of The European Academy of Dermatology and Venereology” The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.
81 citations,
January 2003 in “The FASEB Journal” Follistatin helps hair growth and cycling, while activin prevents it.
72 citations,
April 2008 in “Organogenesis” Wnt signaling is crucial for skin and hair development and its disruption can cause skin tumors.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
66 citations,
July 2007 in “Journal of Molecular Medicine” Stress increases certain chemicals in the skin and nerves, which might worsen skin conditions.
65 citations,
November 2012 in “Tissue Engineering Part B-reviews” Hair follicle stem cells are a promising source for tissue repair and treating skin or hair diseases.
53 citations,
October 1993 in “Drug Safety” Oral retinoids can cause side effects ranging from mild to severe, including birth defects, and require careful monitoring and contraception.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.