26 citations
,
October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
1 citations
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January 1989 This study produced and characterized four new monoclonal antibodies that specifically recognize differentiation antigens in human hair follicle and epidermal structures.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
24 citations
,
January 2018 in “Development” This study found that Frizzled genes Fzd3 and Fzd6 are redundantly involved in controlling hair follicle polarity in mice, but operate through distinct mechanisms, highlighting their complex role in hair orientation.
April 2025 in “Anais Brasileiros de Dermatologia” Abrocitinib effectively treats severe alopecia areata with significant improvement and no side effects.
3 citations
,
July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that cannabinoid receptor type 1 may influence psoriasis development by modulating laminin-511 expression, suggesting a potential target for treatment.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.
118 citations
,
June 1993 in “Journal of Biological Chemistry” This study found that mouse and human protransglutaminase 3 enzymes require calcium-regulated activation for their role in later stages of cell envelope formation in the epidermis and hair follicle.
86 citations
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August 2011 in “Toxicological sciences” In this study, researchers found that TCDD exposure accelerated differentiation and altered gene expression in human epidermal cells, indicating the epidermal barrier as a target of TCDD-activated AHR.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the expression of SLC1A6, a gene linked to calcium gradient and keratinocyte differentiation in the skin, significantly decreases with age, which may contribute to reduced skin barrier function in elderly individuals.
October 1993 in “The Journal of Clinical Pharmacology”
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that STRIP1 and the STRIPAK complex play a key role in regulating F-actin and cell-cell junctions, which are essential for maintaining the epidermal barrier in mouse skin.
February 2024 in “Planta” This study found that TRM21 acts as a positive regulator of flavonoid biosynthesis at the translational level in Arabidopsis, leading to changes in root hair growth and a decrease in flavonoid content when TRM21 is mutated.
31 citations
,
March 2016 in “Journal of Investigative Dermatology” AKR1B10 enzyme may cause keloid scars and could be a treatment target.
56 citations
,
November 2007 in “Molecular and cellular endocrinology” This study identified enzymes responsible for regulating androgen action in the human prostate, suggesting that inhibiting AKR1C2 or RL-HSD may have therapeutic potential in androgen insufficiency or benign prostatic hyperplasia, respectively.
April 2024 in “Demiroglu Science University Florence Nightingale Journal of Medicine” This review highlights the role of the APCDD1 gene and associated pathways in hair follicle biology, offering new perspectives on genetic contributors to hair loss and suggesting potential avenues for developing targeted treatments and preventive strategies.
16 citations
,
September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
48 citations
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August 1998 in “Developmental Biology” In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.
August 2022 in “Precision Clinical Medicine” This study found that the 3' UTR of JAM-A acts as a key competing endogenous RNA that supports dermal papilla cell function and hair follicle regeneration in alopecia areata.
3 citations
,
April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
September 2024 in “Journal of the American Academy of Dermatology” In this study, a novel compound named AH-001 demonstrated effective androgen receptor protein degradation, reducing hair loss progression in a mouse model of androgenetic alopecia, with minimal systemic exposure and side effects, suggesting potential for safer treatment.
23 citations
,
December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
21 citations
,
February 1988 in “Toxicology” This study found that high doses of TCB caused severe toxicity in cotton top marmoset monkeys, with clinical and histological changes similar to those in humans and other primates exposed to PCBs.
April 2024 in “American Journal Of Pathology”
101 citations
,
November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
32 citations
,
May 2012 in “PloS one” This study found that despite the persistence of aberrant double-negative T-cells, functional immune-competence was maintained after thymic transplantation in a patient with a rare FOXN1 mutation.
11 citations
,
July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.