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research Sacituzumab tirumotecan (sac-TMT/MK-2870/SKB264): a novel antibody–drug conjugate in breast cancer
Sacituzumab tirumotecan shows promise in treating breast cancer with manageable side effects.
research Bendamustine: an Old Drug in the New Era for Patients with Non-Hodgkin Lymphomas and Chronic Lymphocytic Leukemia
Bendamustine, often combined with other drugs, is effective and less toxic for certain blood cancers, but less effective for young, fit patients with CLL.
research Bacillus Calmette-Guerin (BCG) Site Reaction After Coronavirus Disease 2019 (COVID-19) mRNA Vaccination
BCG site reactions after COVID-19 mRNA vaccination are mild, temporary, and likely under-reported.
research Serum sickness–like reaction in children: A retrospective review
Children's Serum Sickness-Like Reaction is often linked to antibiotics, especially amoxicillin, and involves symptoms like rash, fever, and joint issues.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Large-Scale, Multicenter, Prospective Registry Study of Ripretinib in Advanced GIST: A Real-World Study from China
Ripretinib is effective and safe for treating advanced GIST in Chinese patients, particularly for non-gastric GISTs.
research Maintenance, withdrawal, and re-treatment with ritlecitinib and brepocitinib in patients with alopecia areata in a single-blind extension of a phase 2a randomized clinical trial
Continuous treatment with ritlecitinib and brepocitinib is needed to maintain hair regrowth in alopecia areata.
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.
research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
PTCH gene mutations contribute to basal cell carcinoma development.
research 022 Randomized, double-blind, placebo-controlled, single-centre, phase I safety study of intradermal injections of autologous fibroblasts isolated from the non-bulbar dermal sheath of the hair follicle to treat skin aging
RCS-01 is safe and may help rejuvenate aging skin.
research Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease
BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research Pityriasis rubra pilaris
Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
research Phytochemical analysis and Antibacterial activity of Eclipta Prostrata found in Chhattisgarh region
Eclipta prostrata has potential as a natural antibiotic.
research ТУБЕРОЗНЫЙ СКЛЕРОЗ (БУРНЕВИЛЛЯ-ПРИНГЛА). ОБЗОР ЛИТЕРАТУРЫ
Early diagnosis, genetic testing, and personalized care are essential for managing tuberous sclerosis.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research In Silico Screening of DrugBank Compounds as Potential Inhibitors for Human Steroid 5α-Reductase 2 for Androgen-Related Diseases
Stiripentol shows promise as a potential treatment for androgen-related diseases but needs more testing.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research BUZZ : an essential gene for postinitiation root hair growth and a mediator of root architecture in Brachypodium distachyon
The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research SKUTECZNOŚĆ STOSOWANIA PROBIOTYKÓW ZAWIERAJĄCYCH LACTOBACILLI W LECZENIU ZESPOŁU JELITA DRAŻLIWEGO U DZIECI
Probiotics with Lactobacillus reuteri improve IBS symptoms in children.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.