48 citations,
July 1992 in “International Journal of Dermatology” HIV can cause various nail and hair disorders, important for early diagnosis and treatment.
April 2018 in “Assiut Veterinary Medical Journal/Maǧallaẗ Asyūṭ al-ṭibiyyaẗ al-baytariyyaẗ” Zinc levels in body fluids can help diagnose zinc deficiency in lambs, with fecal zinc as an early indicator.
March 2017 in “InTech eBooks” Acne vulgaris is a common skin condition that can cause low self-esteem and depression, and early treatment is important to prevent scarring.
12 citations,
March 2011 in “Journal of pathology” Oncogenic K-ras causes rapid cancerous changes in the mouth's lining.
5 citations,
January 2022 in “PloS one” Deleting the p63 gene in certain cells causes problems in thymus development and severe hair loss in mice.
3 citations,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
64 citations,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
1 citations,
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Fetal skin has unique immune cells different from adult skin.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
13 citations,
January 2013 in “Molecular genetics and metabolism” Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
192 citations,
March 2017 in “Cell host & microbe” Hair follicle development and microbes help regulatory T cells gather in newborn skin.
111 citations,
June 2002 in “The EMBO Journal” Too much Smad7 can cause serious changes in skin tissues, including problems with hair growth, thymus shrinkage, and eye development issues.
62 citations,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
12 citations,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.
8 citations,
December 1981 in “Journal of The American Academy of Dermatology” The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
7 citations,
March 2018 in “Journal of The American Academy of Dermatology” Skin changes like hair loss, white patches, and nail changes are common in children after bone marrow transplants, often linked to chronic rejection.
22 citations,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
365 citations,
November 2018 in “Journal of Allergy and Clinical Immunology” People with atopic dermatitis have different skin bacteria, and targeting these bacteria might help treat the condition.
71 citations,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
16 citations,
September 2006 in “The Journal of Immunology” MILL molecules are unique immune proteins in mice that don't need TAP to appear on cell surfaces.
9 citations,
September 2013 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Matriptase is highly active in hair follicles and sebaceous glands, especially during hair growth phases.
26 citations,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
70 citations,
February 2019 in “The journal of immunology/The Journal of immunology” Short-chain fatty acids from *Cutibacterium acnes* cause skin inflammation, contributing to acne.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
43 citations,
June 2018 in “Clinics in dermatology” People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.
40 citations,
March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
2 citations,
December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.