MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
Shock wave therapy improved muscle function and movement in children with spastic cerebral palsy.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
1 citations
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January 2010 The washing machine cylinder can crack at 15 kg and 2400 rpm, which is higher than normal use.
1 citations
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September 2007 in “Neuromuscular disorders” The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
November 2023 in “Annales de dermatologie et de vénéréologie, FMC” Baricitinib effectively treats severe alopecia for up to 104 weeks.
July 2024 in “Journal of Investigative Dermatology” PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
2 citations
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April 2022 in “Research Square (Research Square)” Activating PKM2 and Wnt/β-catenin signaling together can potentially enhance hair growth and could be a treatment for hair loss.
February 2025 in “Geriatrics and gerontology international/Geriatrics & gerontology international” Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
March 2024 in “Research Square (Research Square)” The TT genotype of a specific SNP in sheep is linked to better wool quality.
8 citations
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June 1981 in “Clinica Chimica Acta” MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
January 2022 in “Social Science Research Network” Pyruvate Kinase M2 helps hair grow by linking energy production and a key hair growth pathway.
Baricitinib helps keep hair, eyebrows, and eyelashes regrown for 3 years in most people with severe hair loss.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
December 2024 in “Indian Journal of Veterinary Public Health” Argentine-cross polo ponies commonly develop sarcoid tumors with distinct types and histopathological features.
1 citations
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June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
September 2023 in “Journal of the American Academy of Dermatology” Including special area involvement helps identify more psoriasis patients who may need systemic treatment.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
January 1988 in “Toxicological Sciences” 4PeCDF is highly toxic to male rats, causing weight loss, organ damage, and death.
The data suggests that dosing differences can help manage spasticity in patients with upper motor neuron dysfunction.
January 2022 in “European journal of anatomy” A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
February 2024 in “Bangladesh pharmaceutical journal” The conclusion is that the tested yogurts from Bangladesh are rich in vitamins thiamine and riboflavin, and the testing method is reliable.
2 citations
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December 2022 in “Pharmaceutics” The enzyme pyruvate kinase M2 helps hair regrowth and could be a potential treatment for hair loss.
14 citations
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
92 citations
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November 2003 in “The Journals of Gerontology” Testosterone supplements can increase muscle mass and strength in older men with low levels, but long-term effects and risks need more research.