Results 191 to 200 of about 239,120 (310)

Efficacy and tolerability of perampanel as add‐on therapy in Dravet syndrome: A prospective real‐world study

Epilepsia Open, EarlyView.
Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with Dravet syndrome from the neurology clinic of Shenzhen Children's Hospital from September 2020 to October 2021.
Han Wang, Hong Chen, Xin Ding, Xueyan Cao, Jiahui Mai, Huafang Zou, Dongfang Zou, Yanwei Zhu, Jianxiang Liao, Dezhi Cao   +9 more
wiley   +1 more source

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

Detection of PTEN Mutations in Fine Needle Aspiration Biopsies of Indeterminate Thyroid Nodules: Impact on Diagnosis and Prognosis

Head &Neck, EarlyView.
ABSTRACT Background Data connecting PTEN mutations with thyroid cancer risk for indeterminate nodules remain limited due to the rare nature of these mutations. The aim of this study was to determine the relationship between PTEN mutations identified in cytologically indeterminate nodules and final pathology and clinical outcomes.
Lauren E. Schlegel, Madelaine Brill‐Edwards, Zi‐Xuan Wang, Christopher McNair, Stacey Gargano, Elizabeth Cottrill   +5 more
wiley   +1 more source

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene

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, Li-yu OU, Ya-qin LI, Jing LI, Jin-fu LIN, Ruo-jie HE, Huan LI, Yu-ling ZHU, Cheng ZHANG   +8 more
doaj  

Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene

Stem Cell Research
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj  

Mutational analysis and protein expression of PI3K/AKT pathway in four mucinous cystadenocarcinoma of the breast. [PDF]

Diagn Pathol
Zheng Y, Tang H, Liu Q, Zhang Y, Zhao P, Zhang S, Wang C.   +6 more
europepmc   +1 more source

CRISPR/Cas9‐mediated genome editing reveals seven testis‐enriched transmembrane glycoproteins dispensable for male fertility in mice

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, Yonggang Lu, Daiji Kiyozumi, Hsin‐Yi Chang, Masahito Ikawa   +4 more
wiley   +1 more source

A quantitative comparison of the deleteriousness of missense and nonsense mutations using the structurally resolved human protein interactome. [PDF]

Protein Sci
Su TY, Xia Y.
europepmc   +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, Annalisa Bianco, Valeria De Matteis, Edoardo Scarpa, Rosaria Rinaldi   +4 more
wiley   +1 more source

Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene. [PDF]

Dev Neurobiol
Ünsel-Bolat G, Gerik-Celebi HB, Durgut BD, Türkyılmaz A, Bolat H.   +4 more
europepmc   +1 more source