research Association of Anti-Signal Recognition Particle Myopathy with Systemic Lupus Erythematosus
Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
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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 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 Modelling of the composition of emulsion medicines and cosmetics stabilized by a biocomplex of surfactant substances based on rhamnolipids Pseudomonas sp. PS-17
A semi-automated system can effectively help choose emulsion ingredients, simplifying the creation of medicinal and cosmetic products.
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 Variation in Ovine KRTAP13-3 and Its Association with Wool Characteristics in Chinese Tan Sheep
The KRTAP13-3 gene affects wool fibre diameter variability in Chinese Tan sheep.
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 A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research High‐Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp–Hodgkin Ectodermal Dysplasia
Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
research 647 Alternative splicing factor Esrp1 controls homeostasis of skins by regulating barrier formation and function
Esrp1 is important for skin health by helping form and maintain the skin barrier.
research Characterizing Disease Features and Other Medical Diagnoses in Patients With Pityriasis Rubra Pilaris
PRP patients show varied symptoms and need more research to understand related conditions.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
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 Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
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 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 TRPS1 haploinsufficiency results in increased STAT3 and SOX9 mRNA expression in hair follicles in trichorhinophalangeal syndrome
Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
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 Plasma Rich Platelets Protocol for Androgenetic Alopecia: Development, Implementation and Evaluation: A Quality Improvement Project
The project developed and tested a method using plasma rich platelets to treat hair loss.
research RSL4 regulatory network acts as an early driver of root hair growth at low temperature in Arabidopsis thaliana
A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
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 1117 PX-12 inhibits NLRP3 inflammasome activation to treat psoriasis
PX-12 may help treat psoriasis by blocking inflammation and cell death.
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 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 81 Juvenile RHUPUS syndrome: a case reports
RHUPUS should be considered in children with deforming arthritis.
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 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 Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
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.