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research PRACTICAL PEARL
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research Clitocybin A의 모유두 세포증식 효능
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research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Identification of llama KRTAP7-1 and KRTAP8-1 fiber genes and polymorphism screening
Mutations in specific llama genes may affect fiber quality for textiles.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Limited stage small cell lung cancer
Treat limited stage small cell lung cancer with chemotherapy and radiation, and consider preventive brain radiation for better survival chances.
research A 15-YEAR-OLD FEMALE PATIENT DIAGNOSED WITH SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) AND INITIALLY PRESENTED WITH LUPUS NEPHRITIS, CEREBRITIS, AND DIFFUSE ALVEOLAR HEMORRHAGE (DAH)
Early recognition and treatment of severe SLE symptoms can improve outcomes.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Decision letter: Structural basis of malodour precursor transport in the human axilla
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
research Diagnosis Of Satoyoshi Syndrome Using A Neuroblastoma Cell (SH-SY5Y) Lysate As Substrate For Western Blot
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
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 Drought-induced SlCLE10 coordinates ethylene biosynthesis and root hair development to confer osmotic stress tolerance in tomato
Overexpressing SlCLE10 in tomatoes boosts root hair growth and drought tolerance.
research Genetic Association Between Polycystic Ovary Syndrome and the APOA5 rs662799 and PLIN1 rs894160 Metabolic Variants in the Western Saudi Population: A Case-Control Study
Certain genetic variants may increase the risk of developing PCOS.
research Engineered Bilayer Hydrogel with Spatiotemporal Drug and Oxygen Delivery for Diabetic Wound Microenvironment Reprogramming
The hydrogel effectively heals diabetic wounds by reducing inflammation, providing oxygen, and preventing infection.
research Arachidonate 12-Lipoxygenase Inhibitors Promote S100A3 Citrullination in Cultured SW480 Cells and Isolated Hair Follicles
Inhibiting ALOX12 can help hair cuticle maturation by increasing S100A3 citrullination.
research Developmental Toxicity of Levo-Alpha-Acetylmethadol (LAAM) in Tolerant Rats
LAAM caused developmental toxicity in tolerant rats without causing birth defects.
research Salute to Surgeon of the Month
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research Salute to Surgeon of the Month
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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 Letter: Repair of severed brachial plexus.
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research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Evaluating anti-LGBTQIA+ medical bias in large language models
Large language models often give biased or inaccurate medical responses, especially for LGBTQIA+ prompts.
research Chemical lumbar sympathectomy in the treatment of idiopathic livedo reticularis
Chemical lumbar sympathectomy is an effective and safe treatment for idiopathic livedo reticularis.
research [A systemic lupus erythematosus patient with multiple aseptic bone necroses, thrombosis of superior mesenteric artery and anti-phospholipid antibody].
Anti-phospholipid antibodies in SLE can cause thrombosis and bone necrosis.
research Influence of the alkylsulfonylamino substituent located at the 6-position of 2,2-dimethylchromans structurally related to cromakalim: From potassium channel openers to calcium entry blockers?
New compounds similar to cromakalim were less effective at inhibiting insulin release but improved in solubility and one acted as a calcium entry blocker, not a potassium channel opener.
research Patient-centered care
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research A Message From the President
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research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.