48 citations
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June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
28 citations
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December 2011 in “Biocatalysis and biotransformation” PDI helps restore over-bleached hair's strength and structure by attaching special peptides.
10 citations
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January 2013 in “Journal of skin cancer” PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
12 citations
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September 2011 in “BMJ Case Reports” Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
3 citations
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February 2019 in “Molecular genetics and metabolism” The combination of tadalafil and finasteride improves urinary symptoms and erectile function in men with enlarged prostates.
April 2020 in “Journal of the Endocrine Society” Somatostatin analogues effectively manage ectopic ACTH syndrome when surgery isn't possible.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
8 citations
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September 1987 in “Acta Dermato Venereologica” Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
1 citations
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January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
76 citations
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May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
January 2026 in “RSC Advances” Epristeride's metabolism in zebrafish helps improve doping detection methods.
June 1996 in “Journal of Dermatological Science” 2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
22 citations
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November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
33 citations
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September 1990 in “Proceedings of the National Academy of Sciences” The study showed that a specific DNA sequence can control gene expression in hair growth areas of mice.
26 citations
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December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
9 citations
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June 2016 in “The Cerebellum” 99 citations
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May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
February 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Gut bacteria overgrowth may cause some Post-Finasteride Syndrome symptoms.
16 citations
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January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
3 citations
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January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
30 citations
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December 2019 in “PLoS ONE” The new delivery system improved raloxifene's skin absorption and effectiveness against cancer cells.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
21 citations
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October 2017 in “Cell death and disease” Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
43 citations
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July 2017 in “International journal of pharmaceutics” Using β-cyclodextrin derivatives improves the solubility and bioavailability of steroidal drugs.
21 citations
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August 2007 in “Experimental Dermatology” Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.