December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
37 citations,
June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
January 2000 in “BioScience” The document concludes that understanding hair biology is key to treating hair disorders, with gene therapy showing potential as a future treatment.
100 citations,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
9 citations,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
7 citations,
April 2012 in “Biomolecular concepts” Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
February 2024 in “Planta” TRM21 helps control flavonoid production and root hair growth in Arabidopsis thaliana.
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.
68 citations,
July 2011 in “Journal of Biochemistry/The journal of biochemistry” New LPA receptors (LPA4, LPA5, LPA6) have diverse roles in the body.
64 citations,
November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.
23 citations,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
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.
9 citations,
March 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium concluded that understanding the molecular mechanisms of skin aging could lead to better clinical practices and treatments.
1 citations,
December 2022 in “BMC Genomics” The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
March 2024 in “International journal of molecular sciences” Mitochondrial dysfunction is linked to various skin conditions and could be a target for treatments.
86 citations,
April 2009 in “Journal of anatomy” Hard skin features like scales, feathers, and hair evolved through specific protein changes in different animal groups.
15 citations,
July 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
29 citations,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
29 citations,
January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
8 citations,
December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
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.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
2 citations,
December 2023 in “International journal of molecular sciences” Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
2 citations,
March 2023 in “BMC ecology and evolution” Some hair protein genes evolved early and were adapted for use in hair follicles.
2 citations,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
318 citations,
January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
7 citations,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.