4 citations
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January 2010 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.
1 citations
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May 2015 in “Zeitschrift für Gastroenterologie” Autoimmune gastritis is a common cause of iron deficiency and should be included in diagnostic guidelines.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
26 citations
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September 2023 in “Journal of Allergy and Clinical Immunology” Regulatory T cells help prevent autoimmunity and have potential for treating autoimmune diseases.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
40 citations
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May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
5 citations
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May 2024 in “Developmental Cell” Lower GATA3 levels in mice help hair regrow by changing certain immune cells.
April 2023 in “Journal of Investigative Dermatology” Defective T cell metabolism can cause early skin aging and poor hair follicle stem cell function.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
86 citations
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January 1990 in “The Journal of Pediatrics” Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
48 citations
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March 2003 in “International Journal of Cancer” DMBT1 and galectin-3 may help suppress epithelial skin cancer.
November 2025 in “Journal of Investigative Dermatology” TEC kinases may help cause inflammation in vitiligo and could be targeted for treatment.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
2 citations
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December 2010 in “Zhonghua neifenmi daixie zazhi” AHST shows promise for treating type 1 diabetes but needs more research before widespread use.
83 citations
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June 2018 in “Frontiers in immunology” Certain types of T cells are essential for healthy skin and play a role in skin diseases, but more research is needed to improve treatments.
November 2025 in “The Journal of Immunology” Different γδ T cell types have unique roles in causing alopecia areata.
38 citations
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January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
11 citations
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
8 citations
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January 2008 in “European Journal of Pediatrics” Children with autoimmune gastritis showed improved intestinal health over time and should be checked for other autoimmune conditions.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
2 citations
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November 1996 in “Transplantation” Injecting recipient splenocytes into donors' thymus can prevent graft-versus-host disease.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.