Results 221 to 230 of about 112,737 (278)

L1CAM Promotes the Infiltrative Properties of Patient‐Derived Glioblastoma Cells

Cancer Science, EarlyView.
In vivo validation of L1CAM‐mediated GBM infiltration. Orthotopic transplantation of L1CAM‐expressing GBM cells into mouse brains demonstrated that L1CAM significantly promotes tumor cell infiltration and expansion in the brain parenchyma, confirming its critical role in the aggressive progression of GBM.
Asako Katsuma, Daisuke Kanematsu, Yukako Handa, Tomoko Shofuda, Atsuyo Yamamoto, Kayo Nishitani, Zhize Xiao, Daisuke Kawauchi, Kentarou Baba, Naoyuki Inagaki, Yonehiro Kanemura   +10 more
wiley   +1 more source

Development and Validation of a Multigene Panel for Pharmacogenomics Testing Using Next-Generation Sequencing for Routine Clinical Practice. [PDF]

Clin Transl Sci
Hongkaew Y, Kunadirek P, Sangtian M, Pateetin P, Bunlungsup S, Panmontha W, Kawprasertsri S, Khunlertkit T.   +7 more
europepmc   +1 more source

Twelve‐Month Real‐World Outcomes of Faricimab for Treatment‐Naive Neovascular AMD in Australia

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To provide insights into the effectiveness and safety of faricimab for treatment‐naïve eyes with neovascular age‐related macular degeneration (nAMD). Methods A retrospective cohort study using a prospectively‐designed registry. Treatment‐naïve eyes with nAMD in Australia starting treatment with faricimab between Jan 2023–Sep 2024 ...
Mark Gillies, Yohei Hashimoto, Rahman Nazari, Jennifer Arnold, Beibei Wang, Richard Barry, Ross Ferrier, Justin Game, Daniel Barthelmes   +8 more
wiley   +1 more source

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies. [PDF]

Mol Cytogenet
Suo F, Wang J, Liao M, Wang Y, Zhang Y, Lu X, Gou L, Zhang M, Wu Q, Yin X, Li X, Sun M, Wang L, Gu M, Zhu J.   +14 more
europepmc   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Influence of copy number variation of unknown significance on the pregnancy outcomes. [PDF]

Sci Rep
Wang Y, Wang Z, Chai Y, Wang J, Wang Y, Zhang P.   +5 more
europepmc   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

Clinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç, Linda C. Zuurbier, Merel C. van Maarle, Peter Lauffer, Jonathan I. M. L. Verbeke, Caroline J. Bax, Minke van Tuyl, Ron Hochstenbach, Eva Pajkrt   +8 more
wiley   +1 more source

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families. [PDF]

Genome Med
Du H, Lun MY, Gagarina L, Bengtsson JD, Grochowski CM, Mehaffey MG, Hwang JP, Jhangiani SN, Bhamidipati SV, Muzny DM, Poli MC, Ochoa S, Chinn IK, Lindstrand A, Posey JE, Gibbs RA, Liu P, Lupski JR, Carvalho CMB.   +18 more
europepmc   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source