research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research 44047 Long Term Real-World Treat-to-Target Skin Clearance and Maintenance of Response with Risankizumab in Patients with Moderate to Severe Psoriasis From the CorEvitas Psoriasis Registry
Risankizumab effectively treats and maintains skin clearance in moderate-to-severe psoriasis.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Conflicting Auxin-Phosphate Signals Impact on RSL2 Expression and ROS-Homeostasis Linked to Root Hair Growth in Arabidopsis
Auxin helps root hairs grow in high phosphate by affecting ROS and involving RSL2 and RSL4.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research rPanglaoDB: an R package to download and merge labeled single-cell RNA-seq data from the PanglaoDB database
rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
research PSS20 MEDIATION MODELING AND MEASUREMENT CHARACTERISTICS OF THE ITCH SEVERITY SCORE FROM A PHASE 2B TRIAL OF ORAL CP-690-550 IN PATIENTS WITH MODERATE TO-SEVERE PLAQUE PSORIASIS
CP-690,550 significantly reduced itching in patients with moderate-to-severe plaque psoriasis.
research Class III Peroxidases PRX01, PRX44, and PRX73 Control Root Hair Growth in Arabidopsis thaliana
PRX01, PRX44, and PRX73 are essential for root hair growth in Arabidopsis thaliana.
research The heme-responsive PrrH sRNA regulatesPseudomonas aeruginosapyochelin gene expression
PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
research A novel calmodulin‐interacting Domain of Unknown Function 506 protein represses root hair elongation in Arabidopsis
The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Barley disease susceptibility factor RACB acts in epidermal cell polarity and positioning of the nucleus
RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
research Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis
Trps1 is essential for proper hair follicle development.
research Severe, Disfiguring, Pityriasis Rubra Pilaris in a Woman in the Dominican Republic
A woman with HIV had a severe skin condition that improved with antiretroviral therapy.
research rPanglaoDB: an R package to download and merge labeled single-cell RNA-seq data from the PanglaoDB database
rPanglaoDB helps study rare cell types by merging RNA data, showing fibrocytes aid in healing.
research Platelet-rich plasma therapy: key infection prevention practices and strategies for safety risk reduction
Standardized protocols are crucial for safe and infection-free platelet-rich plasma therapy.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Primary Cutaneous Rhabdoid Squamous Cell Carcinoma: A Case Report and Review of Molecular Features
Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Actualización en plasma rico en plaquetas
More research is needed to standardize and prove the effectiveness of platelet-rich plasma treatments.
research PLGA–Soya Lecithin Based Hybrid Nanocomposite for Targeted Topical Delivery of Resveratrol in Psoriasis Management
The new gel effectively treats psoriasis with minimal side effects.
research Cirmcumscribed juvenile pityriasis rubra pilaris in a 5-year-old-girl treated with topical keratolytic and steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research A Case of Rhupus with Rowell Syndrome
A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.