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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
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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.
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January 2005 in “Cell Stress and Chaperones”
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
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April 2019 in “Scientific Reports” A protein called HMGB1 helps hair grow by affecting prostaglandin metabolism.
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July 1997 in “The Lancet” Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
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August 1999 in “Journal of Investigative Dermatology” Bikunin is found on the cell boundaries of certain skin layers and may help regulate skin and hair functions.
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December 2004 in “Proceedings of the National Academy of Sciences” BMP signaling affects hair color by interacting with the MC-1R pathway.
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
August 2025 in “Cermin Dunia Kedokteran” Low blood albumin often signals disease-related stress, not poor nutrition, and requires treating the cause and possibly supplementing albumin.
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November 2018 in “Journal of Cellular and Molecular Medicine” CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
March 2009 in “European Urology Supplements”
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June 2015 in “Toxicology and Industrial Health” Low doses of BPA can increase prostate growth and change hormone levels in adult rats.
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May 2019 in “Clinica chimica acta” The study developed methods to measure biomarkers in mice and found differences in hormone levels linked to gut microbiota diversity and stress response.
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December 2023 in “International Journal of Molecular Sciences” Lower TNF-α levels in PRP may predict better treatment outcomes for bladder conditions.
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
April 2018 in “Journal of Investigative Dermatology” Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.
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August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
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October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
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December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
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November 2020 in “International Journal of Molecular Sciences” SHBG may be a useful early indicator and treatment target for PCOS.
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
May 2024 in “International journal of medicine and psychology.” Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
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PDGF signaling is crucial for cell development, wound healing, and fluid regulation in the body.