18 citations,
October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
June 2022 in “Authorea (Authorea)” Efficient delivery systems are needed for the clinical use of CRISPR-Cas9 gene editing.
2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
102 citations,
July 2007 in “Genes & Development” A mother's PPARγ is crucial for preventing harmful milk that can cause inflammation and growth problems in babies.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
10 citations,
October 2017 in “Pediatric neurology” Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
9 citations,
February 2019 in “BMC cancer” M30 is a promising treatment for preventing hair loss during chemotherapy.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
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.
55 citations,
August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
31 citations,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
28 citations,
July 2008 in “Developmental Biology” Smad4 is important for healthy hair follicles because it helps produce a protein needed for hair to stick together and grow.
15 citations,
October 2014 in “Journal of Investigative Dermatology” New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.
11 citations,
January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
2 citations,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
July 2004 in “British Journal of Dermatology” The document concludes that accurate diagnosis and treatment are crucial in dermatology, and it presents various findings on skin conditions and treatments.
42 citations,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
38 citations,
October 2014 in “Current Opinion in Endocrinology, Diabetes and Obesity” 5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
1 citations,
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dicer is crucial for hair growth in mice.
87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
34 citations,
April 2018 in “EMBO journal” The protein SLC1A3 is important for activating skin stem cells and is necessary for normal hair and skin growth in mice.
3 citations,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
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.
11 citations,
December 2011 in “Biochemical journal” Neurotrophin-4 increases calcium current in specific mouse neurons through the PI3K pathway.
44 citations,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
26 citations,
July 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The protein Par3 is crucial for healthy skin, affecting the skin barrier, cell differentiation, and stem cell maintenance.
Plant roots respond to fungus smells by possibly using certain proteins and a plant hormone to change root growth, but more research is needed.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The article concludes that creating a detailed map of normal human skin at the single-cell level is important.
21 citations,
January 2022 in “Biomaterials Science” RNA delivery is best for in-body use, while RNP delivery is good for outside-body use. Both methods are expected to greatly impact future treatments.
15 citations,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.