96 citations,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
59 citations,
June 2022 in “Frontiers in medicine” There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.
59 citations,
September 2015 in “Journal of Immunology” Certain proteins, caspases-1 and -11, are important in the early development of skin inflammation in mice.
58 citations,
February 2016 in “Scientific reports” Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
39 citations,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
30 citations,
June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
29 citations,
January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
25 citations,
October 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
24 citations,
October 2017 in “Biomolecules” Some growth factors, while important for normal body functions, can cause diseases when not regulated properly.
23 citations,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
20 citations,
September 2021 in “Nature communications” Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.
12 citations,
March 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
10 citations,
May 2020 in “Journal of proteome research” Explosions don't stop hair proteins from being used to identify people.
7 citations,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
7 citations,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
2 citations,
September 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
1 citations,
January 2014 in “Elsevier eBooks” Melanocytes produce melanin; their defects cause vitiligo and hair graying, with treatments available for vitiligo.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
Wild African goats have genetic adaptations for surviving harsh desert conditions.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” A specific immune response helps control mite populations on the skin, maintaining healthy hair follicles.
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.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
Stem cells regenerate tissues and their behavior varies by environment, suggesting the hematopoietic system model may need revision.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
June 2005 in “John Wiley & Sons, Ltd eBooks” Insulin resistance is linked to PCOS and can lead to other health issues, but treatments like metformin can help manage symptoms.
June 1996 in “Irish Journal of Medical Science (1971 -)” The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
March 2024 in “EMBO molecular medicine” Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.