35 citations
,
January 2011 in “Journal of Biological Chemistry” sPLA2-X is crucial for normal hair growth and follicle health.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
105 citations
,
April 2014 in “Trends in Pharmacological Sciences” Targeting the Smoothened receptor shows promise for treating certain cancers.
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.
16 citations
,
December 2006 in “Expert Review of Dermatology” Hair follicles are essential for skin health, aiding in hair growth, wound healing, and immune function.
13 citations
,
January 2023 in “Annual Review of Cancer Biology” Cancer risk is linked to the balance of mutations and environmental factors, not just the number of mutations.
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.
43 citations
,
July 2024 in “Nutrients” A balanced diet with essential micronutrients is crucial for healthy thyroid function.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
3 citations
,
January 2016 in “Elsevier eBooks” Steroid hormones are crucial for body functions and have various medical uses, but their misuse can lead to dependence.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
48 citations
,
January 2024 in “Immune Network” IL-15 is key for T cell function and could help improve treatments for immune-related diseases.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
510 citations
,
August 2006 in “Endocrinology” The vitamin D receptor is involved in multiple body functions beyond calcium regulation, including immune response and rapid reactions not related to gene activity.
112 citations
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May 2020 in “Nature Communications” Adult fibroblasts help heart cells mature and improve heart function.
23 citations
,
August 2005 in “Expert opinion on pharmacotherapy” New treatments for low male hormones improved sexual function and mood but had unclear risks, especially for older men.
1 citations
,
March 2024 in “International journal of molecular sciences” Radiation therapy damages skin structure and immune function, causing inflammation and potential hair loss.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
Meis2 is essential for touch sensation and nerve function in mice.
The transcription factor Meis2 is essential for touch sensation and proper nerve development in touch receptors.
10 citations
,
August 2021 in “EMBO Reports” The Bcl-2 protein is important for keeping hair follicle stem cells working and preventing hair loss.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
January 2018 in “Stem cell biology and regenerative medicine” ATP-dependent chromatin remodeling is crucial for skin development and stem cell function.
48 citations
,
February 2013 in “Molecular and Cellular Endocrinology” The protein StAR is found in 17 different organs and can affect hair loss and brain functions, but its full role is not yet fully understood.
24 citations
,
October 2017 in “Biomolecules” Some growth factors, while important for normal body functions, can cause diseases when not regulated properly.
15 citations
,
July 2021 in “Bosnian Journal of Basic Medical Sciences” Stem cell therapy is promising for treating various health conditions, but more research is needed to understand its full potential and address challenges.
June 2015 in “Biomedical and biopharmaceutical research” The congress showed advancements in skin hydration, barrier function, and safe, effective new cosmetic formulations.