81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
66 citations
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January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
1 citations
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May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
5 citations
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April 2014 in “Journal of Lipid Research” SCD1 inhibitors can cause skin issues in rodents.
November 2014 in “DOAJ (DOAJ: Directory of Open Access Journals)” Nanostructured lipid carriers can effectively deliver spironolactone to hair follicles for treating hair loss.
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October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
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February 2020 in “EMBO Reports” MEX3A is crucial for maintaining intestinal stem cells in mice.
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September 2010 in “The American journal of pathology” High glucocorticoids cause pancreatic malfunction and malabsorption, reversible with enzyme supplements.
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
April 2024 in “Oral Surgery Oral Medicine Oral Pathology and Oral Radiology” The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
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August 1998 in “Journal of Investigative Dermatology” 1 citations
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May 2023 in “Research Square (Research Square)” Patients with acne and insulin resistance have different blood metabolites compared to those with only acne, which could help in diagnosis and treatment.
70 citations
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February 2019 in “The journal of immunology/The Journal of immunology” Short-chain fatty acids from *Cutibacterium acnes* cause skin inflammation, contributing to acne.
3 citations
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July 1985 in “British journal of dermatology/British journal of dermatology, Supplement” Autoimmune-related phenomena do not affect the progression or characteristics of lichen sclerosus in women.
44 citations
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August 2017 in “Food Bioscience” Researchers made a special butter with added betasitosterol that could be healthier for the heart and stayed good for three months.
November 2022 in “Journal of Investigative Dermatology” Aging skin cells change their lipid profiles due to stress, affecting skin health.
September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
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August 2018 in “Journal of Investigative Dermatology”
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August 2019 in “PubMed” A specific enzyme that activates the hair growth medication minoxidil when applied to the skin was identified.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
January 2008 in “Vestnik Tomskogo gosudarstvennogo universiteta Filologiya” Overexpressing the Tβ4 gene in goats can increase cashmere production.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
May 2025 in “The Journal of Rheumatology” SLE can cause unusual gastrointestinal symptoms, and immunosuppressive therapy can be effective.
14 citations
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May 2009 in “Journal of the American Academy of Dermatology” The patient's scalp lesions stabilized with a combination of treatments after initial therapies failed.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
February 2018 in “Zenodo (CERN European Organization for Nuclear Research)” High doses of Lagenaria siceraria fruit powder lower FSH and LH hormone levels in male rats.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
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March 2017 in “Oncotarget” SOCS3 treatment can prevent hair loss by stopping harmful immune responses.
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March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.