Results 181 to 190 of about 241,061 (333)
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish [PDF]
, 2017 Gao, Meng +15 more
core +1 more source
Absence of alpha‐sarcoglycan and novel missense mutations in the alpha‐sarcoglycan gene in a young British girl with muscular dystrophy [PDF]
, 1997 Rosaline C. M. Quinlivan +5 more
openalex +1 more source
Identification and characterization of two missense mutations causing factor XIIIA deficiency [PDF]
, 1999 Sasichai Kangsadalampai +5 more
openalex +1 more source
Nanotechnology in brain cancer treatment: The role of gold nanoparticles as therapeutic enhancers
Ibrain, EarlyView.This review highlights the potential of gold nanoparticles (AuNPs) in overcoming the blood‐brain barrier (BBB) to improve brain tumor treatment. By enabling targeted drug delivery and enhancing therapies like radiotherapy, phototherapy, and chemotherapy, AuNPs offer a promising approach for safer, more effective treatments of glioblastoma and other ...
Simona Tarantino +4 more
wiley +1 more source
Targeting the Menin–KMT2A interaction in leukemia: Lessons learned and future directions
International Journal of Cancer, EarlyView.Abstract Chromosomal rearrangements involving the Mixed Lineage Leukemia gene (MLL1, KMT2A) are defining a genetically distinct subset in about 10% of human acute leukemias. Translocations involving the KMT2A‐locus at chromosome 11q23 are resulting in the formation of a chimeric oncogene, where the N‐terminal part of KMT2A is fused to a variety of ...
Florian Perner +3 more
wiley +1 more source
The impact of missense mutations on human behavior
Brain Research Bulletin, 2012 Mohajeri, M. Hasan, Giese, K. Peter
openaire +4 more sources
International Journal of Cancer, EarlyView.What's New? Currently, no published data on homologous recombination deficiency (HRD) testing in the setting of molecular tumor boards exist. This study in a cohort of 237 patients encompassing 24 different tumor entities assessed by a molecular tumor board shows that inactivating alterations of BRCA1/2 are not always associated with an elevated ...
Christoph Schubart +26 more
wiley +1 more source
Andrology, EarlyView., 2023 Abstract Background Mammalian fertilization is mediated by multiple sperm acrosomal proteins, many of which are testis‐enriched transmembrane glycoproteins expressed during spermiogenesis (e.g., Izumo sperm‐egg fusion 1, Sperm acrosome associated 6, and Transmembrane protein 95).
Yo Ogawa +4 more
wiley +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Objective To summarize the phenotype and genotype of a family of Becker muscular dystrophy (BMD) caused by a novel missense mutation of DMD gene. Methods and Results Clinical data of one BMD proband and the family members were collected.
Yun-qing GAO +8 more
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