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A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

CD80CD86 Deficiency Disrupts Regulatory CD4+FoxP3+ T Cell Homeostasis and Induces Autoimmune-Like Alopecia

research CD80CD86 deficiency disrupts regulatory CD4+FoxP3+T cell homoeostasis and induces autoimmune-like alopecia

6 citations , April 2017 in “Experimental dermatology”

CD80CD86 deficiency causes hair loss by disrupting regulatory T cells.

research Clinical and biochemical changes during high-dose glucocorticoid therapy in patients with pemphigus vulgaris (a comparative study with endogenous hypercortisolism)

April 2026 in “Almanac of Clinical Medicine”

High-dose glucocorticoid therapy clears skin lesions in pemphigus vulgaris but causes side effects like weight gain and muscle weakness.

The Contributory Roles of Th17 Lymphocyte and Cytotoxic T Lymphocyte at the Hair Bulge Region and Hair Bulb Area in Chronic Alopecia Areata Patients

research The Contributory Roles of Th17 Lymphocyte and Cytotoxic T Lymphocyte at the Hair Bulge Region as Well as the Hair Bulb Area in the Chronic Alopecia Areata Patients

18 citations , January 2017 in “Annals of dermatology/Annals of Dermatology”

Certain immune cells contribute to severe hair loss in chronic alopecia areata, with Th17 cells possibly having a bigger impact than cytotoxic T cells.

research 509 Using the human iPSCs-derived sensory neurons re-innervated skin ex vivo model to investigate mast cell-nerve fiber cross-talk in solar elastosis

November 2024 in “Journal of Investigative Dermatology”

Nerve fibers may worsen mast cell activity, leading to abnormal elastic fiber buildup from sun exposure.

research Analysis of a multiple nuclear dots pattern in a large cohort of dermatological patients.

5 citations , January 2012 in “PubMed”

Anti-MND antibodies are present in various diseases, not just PBC, and their levels don't correlate with disease activity or skin symptoms.

research Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey

February 2026 in “Immunity Inflammation and Disease”

Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.

Astilbin Activates the Reactive Oxidative Species/PPARγ Pathway to Suppress Effector CD4+ T Cell Activities via Direct Binding With Cytochrome P450 1B1

research Astilbin Activates the Reactive Oxidative Species/PPARγ Pathway to Suppress Effector CD4+ T Cell Activities via Direct Binding With Cytochrome P450 1B1

1 citations , May 2022 in “Frontiers in Pharmacology”

Astilbin can potentially calm overactive immune responses, like in Type 1 Diabetes, by suppressing certain cell activities and reducing inflammation.

research Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation

September 2016 in “Journal of dermatological science”

The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.

research Imatinib-induced classical lichen planopilaris in blaschko-linear distribution leading to cicatricial alopecia

2 citations , February 2021 in “Indian Dermatology Online Journal”

Imatinib can cause hair loss due to lichen planopilaris.

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