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Reflectance confocal microscopy helped diagnose and manage a woman's hair loss without needing a biopsy.

This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.

In this study, the authors reported that AtRXR3, a phosphorus-inducible DUF506 protein, modulates root hair growth under phosphorus stress by interacting with calmodulin and influencing calcium oscillations.

In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.

In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.

This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.

This study found that RCM combined with dermoscopy can differentiate disease states between alopecia areata, tinea capitis, nevus sebaceous, and linear scleroderma of the scalp by identifying distinct dermal and follicular patterns.

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.

This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.

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.

This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.

This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.

In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.

This study found that Arabidopsis thaliana mutants with altered AtRBOHC/RHD2 enzyme function showed abnormal protein regulation linked to increased drought sensitivity due to disrupted plasma membrane protein balance and cytoskeleton changes, as revealed through proteomic analysis and advanced microscopy.

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.

In this study, researchers found that a positive feedback loop involving Ca 2+ and RHD2 NADPH oxidase-derived ROS helps maintain growth sites, crucial for root hair development and cell shape in Arabidopsis thaliana.

This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.

Reflectance confocal microscopy is a useful, non-invasive tool for diagnosing some skin diseases, with potential for future improvements.

This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.

This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This study found that a positive feedback loop involving RHD2, reactive oxygen species, and calcium ions helps maintain root hair growth sites and influences cell shape in Arabidopsis thaliana.

This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.

In this report, a 54-year-old woman with familial dyskeratotic comedones showed slight improvement in skin lesions after topical retinoids and urea cream. This source also describes the first dermoscopic findings for this condition and reviews 21 previous cases.

This study found that Carbon Quantum Dots effectively detected and quantified Co²⁺ ions and methylcobalamin in tap water with high sensitivity and recovery rates between 95% and 105%.