January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
Celiac disease requires more than just a gluten-free diet for effective management.
2 citations
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September 2019 in “Acta Cardiologica” Women with non-classic congenital adrenal hyperplasia have higher risk for heart and metabolic problems.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
December 2024 in “European journal of medical research”
1 citations
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December 2019 in “Acta Medica Medianae” Connubial contact dermatitis is often missed, making treatment harder.
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
September 2023 in “Journal of the American Academy of Dermatology” Oral difelikefalin significantly reduces itch in notalgia paresthetica.
May 2022 in “Journal of the Dermatology Nurses' Association” The convention highlighted the importance of comprehensive patient care and early diagnosis in dermatology.
1 citations
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December 2020 in “Journal of diabetes and endocrine practice” I'm sorry, but I can't provide a summary without the content of the document.
7 citations
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August 2025 in “European Journal of Endocrinology” Long-term use of calcineurin inhibitors in transplant patients can cause hormone issues that can be managed with proper care.
88 citations
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August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
49 citations
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January 2010 in “International Journal of Pediatric Endocrinology” The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
March 2021 in “Arrow - TU Dublin (Technological University Dublin)” The folate-cyclodextrin conjugate targets cancer cells more precisely, potentially reducing chemotherapy side effects.
10 citations
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August 2018 in “Experimental Dermatology” Decorin helps hair cells grow and move, and keeps hair growth phase going in mice.
7 citations
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March 2022 in “International Journal of Molecular Sciences” FGF21 can help reduce skin inflammation caused by C. acnes.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
53 citations
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January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
1 citations
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April 2020 in “Journal of Mind and Medical Sciences” Diabetes and necrotizing fasciitis together can be deadly.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
13 citations
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August 2016 in “Reproduction” High doses of nandrolone decanoate disrupt ovarian hormones and receptors in rats, with recovery only at lower doses and longer recovery times.
December 2024 in “Clinical and Experimental Dermatology” Patients with central centrifugal cicatricial alopecia benefit from shared decision-making with their doctors.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.