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research Physiological and retinoid-induced proliferations of epidermis basal keratinocytes are differently controlled
This study found that RXRα/RARγ heterodimers are necessary for retinoic acid-induced keratinocyte proliferation in the skin, while normal epidermal maintenance does not require RAR-mediated signaling.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
research PRX102 Participates in Root Hairs Tip Growth of Rice
This study found that PRX102, a peroxidase with a unique polar localization pattern, plays a role in root hair growth by aiding the transport of materials to the tips of growing root hairs.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
research CC-type glutaredoxins mediate plant response and signaling under nitrate starvation in Arabidopsis
This study suggests that ROXYs and reactive oxygen species are likely involved in the signaling pathways plants use to respond to nitrate deprivation.
research Trichothiodystrophy: Current Concepts
This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
research Defective control of growth rate and cell diameter in tip-growing root hairs of therhd4mutant ofArabidopsis thaliana
This study found that a recessive mutation in the RHD4 gene of Arabidopsis thaliana leads to slower and more variable tip growth in seedling root hairs, resulting in shorter and wider hairs than in wild-type plants.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
research Hairless Modulates Ligand-Dependent Activation of the Vitamin D Receptor-Retinoid X Receptor Heterodimer
This study found that the protein hairless acts as both a corepressor and coactivator of the vitamin D receptor, influencing gene transcription in a ligand-selective manner.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
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.
research SRXRF elemental mapping and source analysis of Pb,Fe,Cu and Zn in human hair from an inhabitant in a lead-zinc mining area
This study found that lead accumulated in the hair shafts of individuals exposed to mining environments, while iron, copper, and zinc levels remained stable, highlighting the significance of SRXRF micro-analysis for environmental health research.
research Strontium Ranelate Promotes Chondrogenesis Through Inhibition of the Wnt/β-catenin Pathway
This study found that strontium ranelate may promote cartilage regeneration by enhancing chondrogenic differentiation and inhibiting the Wnt/β-catenin signaling pathway in rat models of cartilage defects.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
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.
research Retinoic acid exerts sexually dimorphic effects on muscle energy metabolism and function
This study observed sexually dimorphic effects of reduced Rdh10 on energy metabolism and muscle function in mice, with males experiencing decreased endurance and females showing increased endurance on a high-fat diet.
research Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
research Suppression of Vitamin D Receptor and Induction of Retinoid X Receptor α Expression During Squamous Differentiation of Cultured Keratinocytes
This study found that vitamin D receptor expression is associated with proliferating keratinocytes, while retinoid X receptor α is linked to differentiating keratinocytes, suggesting differential targeting by vitamin D metabolites.
research Quantification of the Vitamin D Receptor−Coregulator Interaction
This study found that both the natural ligand 1alpha,25(OH)(2)D(3) and the synthetic agonist LG190178 bind similarly to the vitamin D receptor's coregulator motifs, suggesting similar biological functions.
research 5α-Reductase, an enzyme regulating glucocorticoid action in the testis of Rhinella arenarum (Amphibia: Anura)
5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
This study provided the first X-ray crystal structure of the mammalian steroid hormone reductase AKR1D1 and identified a disease-related mutant, P133R, which may impact bile acid metabolism and cause clinical symptoms.
research Differential expression of retinoic acid-synthesizing (RALDH) enzymes during fetal development and organ differentiation in the mouse
This study reports that the differential expression patterns of three retinaldehyde dehydrogenases suggest a regulated need for retinoic acid synthesis in various organs during late mouse organogenesis.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
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.
research Strontium ranelate promotes chondrogenesis through inhibition of the Wnt/β-catenin pathway
This study found that strontium ranelate promotes cartilage regeneration in rats by enhancing chondrogenic differentiation of bone mesenchymal stem cells while inhibiting the Wnt/β-catenin signaling pathway.
research Expression of retinoid nuclear receptor superfamily members in human hair follicles and its implication in hair growth.
This study found that RXR agonists stimulated human hair follicle growth and survival in vitro, suggesting potential for promoting hair growth in humans.
research The Auxin-Regulated CrRLK1L Kinase ERULUS Controls Cell Wall Composition during Root Hair Tip Growth
This study concluded that the receptor-like kinase ERULUS, regulated by auxin, is crucial for modulating cell wall composition and pectin dynamics during root hair growth in Arabidopsis.