December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
1 citations
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October 2016 in “The American Journal of Gastroenterology” Celiac disease can cause thyroid medication malabsorption, and a gluten-free diet can help stabilize thyroid levels.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
5 citations
,
May 2024 in “Journal of Allergy and Clinical Immunology Global” Upadacitinib effectively improved severe atopic dermatitis and alopecia universalis in a 29-year-old man.
2 citations
,
November 2011 in “InTech eBooks” Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
2 citations
,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
63 citations
,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
8 citations
,
September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
41 citations
,
December 2015 in “JAMA Dermatology” Tofacitinib citrate improved nail dystrophy and pain in patients with alopecia universalis without causing side effects.
32 citations
,
December 2019 in “The Journal of clinical investigation/The journal of clinical investigation” A protein called IL-36γ causes skin side effects from certain cancer treatments when combined with a common skin bacteria.
December 2023 in “PubMed” Metformin and liraglutide improved symptoms of HAIR-AN syndrome in a child.
January 2017 in “Springer eBooks” The document concludes that Cutaneous Lupus Erythematosus has different forms, is influenced by genetic and environmental factors, and can be treated with various medications, but more targeted therapies are needed.
28 citations
,
January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
93 citations
,
April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” Fatty acid transport protein 4 is essential for skin and hair development.
36 citations
,
March 2014 in “Molecular and Cellular Biology” Cidea is essential for proper lipid storage and secretion in sebaceous glands, affecting skin and hair health.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
April 2025 in “BMC Urology” Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
January 2023 in “World Journal of Clinical & Medical Images” Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
January 2007 in “Leather Science and Engineering” 37 citations
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September 2002 in “Acta pædiatrica” A cystic fibrosis patient developed Cushing's syndrome from a drug interaction between itraconazole and budesonide, which improved after stopping the medications.
April 2012 in “Journal of the American Academy of Dermatology” Clofazimine effectively treated ashy dermatosis in a patient.
March 2022 in “Oncology Times” Tebentafusp-tebn improves survival rates in uveal melanoma patients but has common side effects like rash and fatigue.
23 citations
,
November 2024 in “Nature”
36 citations
,
June 2019 in “eLife” The study developed a tool to predict how gut microbes process foods and drugs, showing that similar compounds often share metabolic pathways and effects.
28 citations
,
June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
1 citations
,
June 2025 in “Journal of Allergy and Clinical Immunology Global” A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.