5 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
26 citations
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December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
December 2020 in “Innovation in aging” Rapamycin treatment helps reduce brain inflammation and symptoms of mitochondrial disease by blocking specific pathways in mice.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
184 citations
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August 1983 in “The journal of pediatrics/The Journal of pediatrics” Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
September 2016 in “Hair transplant forum international” Methylene blue is less effective than normal saline solution for storing hair grafts and may reduce graft survival.
January 2018
414 citations
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August 2005 in “The Journal of Clinical Endocrinology and Metabolism” Polycystic ovary syndrome costs the U.S. over $4 billion a year, mainly from treating related health issues.
124 citations
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June 2002 in “Best Practice & Research Clinical Endocrinology & Metabolism” Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.
60 citations
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September 2001 in “Journal of the American Academy of Dermatology” Insulin resistance contributes to hormone imbalances in many women with polycystic ovary syndrome.
1 citations
,
January 2022 in “Journal of experimental and clinical medicine” PCOS is linked to diabetes and insulin resistance, and managing AGEs may help treat related symptoms.
430 citations
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July 2002 in “Journal of Endocrinology” The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.
131 citations
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October 2004 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” The conclusion is that PCOS is caused by ovarian sensitivity to hormones and disrupted hormone control, possibly due to ovarian factors, and more research is needed.
129 citations
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January 2019 in “Clinical medicine insights” Obesity worsens PCOS symptoms, and PCOS may lead to more weight gain; managing both requires a holistic approach that includes mental health.
90 citations
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January 2021 in “Clinical Endocrinology” Obesity increases the risk of developing polycystic ovary syndrome, and weight loss can improve the condition.
11 citations
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November 2020 in “Movement Disorders Clinical Practice” A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
3 citations
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September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
59 citations
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July 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
3 citations
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September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
65 citations
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August 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Anti-acne medications may work by reducing the activity of a protein involved in acne development.
12 citations
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February 2011 in “Dermatologic Surgery” Retinoids can prevent skin cancer in high-risk people but have side effects and require more research on dosing and effectiveness.
12 citations
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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.
4 citations
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January 2022 in “Transfusion Medicine and Hemotherapy” Platelet-Rich Plasma (PRP) has potential benefits in plastic surgery, especially for skin grafts, wound healing, hair loss, mild Carpal Tunnel Syndrome, and TMJ disorders, but more research is needed to confirm its effectiveness.
January 2016 in “SpringerBriefs in bioengineering” Genetic defects and UV radiation cause skin damage and aging.
147 citations
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January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
87 citations
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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.
44 citations
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January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.