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960-990 / 1000+ results research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Quantification of the Vitamin D Receptor−Coregulator Interaction
Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
research 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Incomplete Sjögren-Larsson Syndrome in Two Japanese Siblings?
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research The effects of sodium metasilicate on the spinal motoneuron recovery following sciatic nerve injury
Sodium metasilicate improved spinal motoneuron recovery after sciatic nerve injury in rats.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
research Reduced SMAD2/3 activation independently predicts increased depth of human cutaneous squamous cell carcinoma
Lower SMAD2/3 activation predicts more severe skin cancer.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research Multicolor Cell Barcoding Technology for Long-Term Surveillance of Epithelial Regeneration in Zebrafish
Zebrafish skin regeneration relies on cell behaviors and reactive oxygen species, with antioxidants reducing and hydrogen peroxide increasing regeneration.
research Arabidopsis PCaP2 Functions as a Linker Between ABA and SA Signals in Plant Water Deficit Tolerance
Arabidopsis PCaP2 helps plants survive drought by linking ABA and SA signals.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research 414 A fitst-in-human study of BLZ-100 (tozuleristide) demonstrates tolerability and fluorescence contrast in skin cancer
BLZ-100 is safe for use in skin cancer surgery and may help identify cancerous tissue.
research Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus
The new SLICC criteria for diagnosing lupus are more sensitive and accurate than the old criteria.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research The Appearance of Four Basement Membrane Zone Antigens in Developing Human Fetal Skin
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Flexible label-free SERS substrate with alginate-chitosan@silver nanocube for in situ nondestructive detection of thiram on apples
A new method was developed to detect pesticide residues on apples without damage.
research Sulfatase inhibitors: a patent review
The document concludes that research on sulfatase inhibitors should continue due to their potential in treating various diseases, despite some clinical trial failures.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research 420 Alopecia in children and adults with cystic fibrosis on elexacaftortezacaftor-ivacaftor
research Identification of Transcripts Commonly Expressed in Both Hematopoietic and Germ-Line Stem Cells
Seven genes are highly expressed in both germ-line and hematopoietic stem cells.
research Cell Proteomic Footprinting: Advances in the Quality of Cellular and Cell-Derived Cancer Vaccines
Cell proteomic footprinting enhances cancer vaccine quality by ensuring correct antigen composition.
research Message from the Program Chair of the 2007 Annual Scientific Meeting
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