Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.

This study discusses the immune dysregulation observed in individuals with Down syndrome, highlighting their increased risk for autoimmune skin conditions, but does not yet clarify the molecular mechanisms behind this profile.

In this study, a 68-year-old man with muscle-invasive bladder cancer and renal insufficiency achieved a partial radiological response to neoadjuvant therapy with gemcitabine and Disitamab Vedotin, without significant adverse events, highlighting a potential alternative for cisplatin-ineligible patients.

This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.

This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.

In this study, researchers demonstrated that the Id2 gene acts as a direct target and effector of BMP signaling, playing a key role in maintaining quiescence in hair follicle stem cells in vivo.

This study found that adipose-derived mesenchymal stem cells from type 2 diabetes mice were slightly less effective, yet had comparable therapeutic effects on wound healing compared to non-diabetic controls.

In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.

The researchers reported that adipose-derived stem cells from type 2 diabetic mice showed comparable therapeutic effects in wound healing to control cells, despite slightly reduced growth factor secretion and healing promotion.

This case study reported on a 30-year-old male with autoimmune polyglandular syndrome type 2, highlighting rare co-occurrence with alopecia universalis and emphasizing the importance of recognizing non-endocrine symptoms for early diagnosis and management of autoimmune endocrinopathies.

This study investigated whether individuals with psoriasis have higher MDS-16 scores and potentially more maladaptive daydreaming compared to healthy individuals.

In a murine model of alopecia areata, this study observed that the IL-2 fusion protein HCW9302 helped prevent disease development by expanding regulatory T cells and reducing disease-causing effector T cell infiltrates, suggesting potential for using IL-2 fusion proteins in alopecia areata treatment.

This case report details a severe instance of VDR-II where intravenous calcium infusions, administered nightly, successfully improved clinical, radiological, and biochemical signs of rickets without alopecia despite ineffective calcitriol therapy.

In this study, distinct clinical responses and long-term resistances were observed in two pediatric patients with vitamin D-dependency type II, associated with abnormalities in their skin fibroblast interactions with 1,25-(OH)2D3.

This study observed that patients with autism spectrum disorder have a higher risk of developing alopecia areata compared to those without ASD, suggesting a possible link between the two conditions.

This study successfully established Tsc2-deficient embryonic stem cells from Eker rats and found these cells have distinct gene expression compared to non-mutant cells, which could help identify new therapeutic targets for TSC-related pathogenesis.

This study found that type II diabetes inhibited hair follicle regeneration and skin cell proliferation in mice, potentially explaining reduced skin renewal and chronic wound formation in diabetes.

This review found an increased prevalence of common skin disorders, such as infectious and inflammatory conditions, in patients with Down syndrome and highlighted the need for improved screening and management guidelines.

This case report discusses a 27-month-old girl with vitamin D-dependent rickets type II, who showed minor improvement in skeletal features and alopecia after high-dose oral calcium and vitamin D3 treatment.

This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.

This study found that the absence of Ctip2 in epidermal keratinocytes led to impaired wound healing in mice, affecting cell migration, proliferation, and hair follicle stem cell maintenance.

This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.

This case report details the first known instance of interferon-induced lichen planus in a seronegative HCV patient with metastatic renal cell carcinoma.

This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.

This study found that combining AMD3100 and low-dose FK506 significantly improved and accelerated the healing of diabetic wounds in rats, suggesting a promising therapeutic approach for wound care in diabetes.

This paper discusses two preclinical models for studying alopecia areata and finds that testing new therapeutic agents should involve both the C3H/HeJ mouse model and the humanized mouse model for comprehensive insights.

This review discusses the role of DHT in male sexual differentiation and fertility in individuals with 5α-reductase-2 deficiency, reporting no new clinical results.

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.