October 2025 in “Frontiers in Molecular Biosciences” Bruce Ames's work has greatly influenced research on genetics, aging, and health, inspiring ongoing studies on mitochondria and longevity.
29 citations
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April 2019 in “Acta neuropathologica communications” Stopping mitochondrial respiration can prevent brain cancer spread in skin cancer patients, and plant compound β-sitosterol could help achieve this.
49 citations
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November 2012 in “Journal of neurology, neurosurgery and psychiatry” Non-motor symptoms in myasthenia gravis are common and need early diagnosis for better management.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
10 citations
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January 2016 in “Dermatology” People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
64 citations
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May 1981 in “Clinical and Experimental Dermatology” A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
5 citations
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January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
2 citations
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September 2018 in “JAAD case reports” A rare type of skin cancer with mucosal involvement was partially treated but eventually relapsed.
2 citations
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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.
6 citations
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April 2010 in “Arthritis Care & Research” Antituberculous drugs improved symptoms in a woman with lupus and myositis.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
March 2026 in “Pediatrics in Review” The boy's symptoms improved with thyroid treatment, and he lost weight, but occasional palpitations persisted.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
October 2023 in “Frontiers in endocrinology” Androgens and androgen receptors are important for metabolic health, affecting how the body uses glucose and fats through mitochondrial function.
5 citations
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April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” Monilethrix causes brittle hair and hair loss, and it runs in families.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Activating mitophagy may help manage a key immune response involved in the hair loss condition alopecia areata.
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
January 2024 in “Medical mycology journal” A mother and her two daughters got a skin infection from their cat.
20 citations
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September 2005 in “Clinics in Dermatology” Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
July 2025 in “Journal of Investigative Dermatology” Resident memory T cells and necroptosis may drive fibrosis in eosinophilic fasciitis and morphea.
11 citations
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January 2013 in “Revista Brasileira De Terapia Intensiva” Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
42 citations
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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.
26 citations
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July 2012 in “Endocrine Connections” Mitotane changes steroid breakdown, affecting cortisol availability.
April 2007 in “CRC Press eBooks” Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
Mycophenolate mofetil is a good alternative for autoimmune hepatitis patients who can't tolerate azathioprine.
8 citations
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January 2003 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
January 2025 in “Genetics in Medicine Open” Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.