Cargando…

Excluding embryos with two novel mutations in FREM2 gene by the next-generation sequencing-based single nucleotide polymorphism haplotyping

Fraser syndrome is a rare autosomal recessive malformation disorder. It is characterized by cryptophthalmos, syndactyly, urinary tract abnormalities and ambiguous genitalia. This condition is due to homozygous or heterozygous mutations in the FRAS1, FREM1, FREM2, and GRIP1 genes. In the present stud...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhou, Yao, Yang, Xiaohui, Liu, Zheng, Zhang, Yu, Chen, Huaye, Zhang, Yongfang, Hu, Yuxin, Ma, Yanlin, Li, Qi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Impact Journals 2021
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660615/ https://www.ncbi.nlm.nih.gov/pubmed/34837691 http://dx.doi.org/10.18632/aging.203715

Ejemplares similares

The Metabolic Reprogramming of Frem2 Mutant Mice Embryos in Cryptophthalmos Development
por: Zhang, Xiayin, et al.
Publicado: (2021)

CERN har frem-stilt antimaterie
por: Hellstrøm, U P
Publicado: (1996)

Genetic mutation of Frem3 does not cause Fraser syndrome in mice
por: Kiyozumi, Daiji, et al.
Publicado: (2019)

Identification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotyping
por: Chen, Song-Chang, et al.
Publicado: (2016)

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice
por: Vissers, Lisenka E. L. M., et al.
Publicado: (2011)

Identification and Comprehensive Analysis of FREM2 Mutation as a Potential Prognostic Biomarker in Colorectal Cancer
por: Du, Hanpeng, et al.
Publicado: (2022)

The inconsistency between two major aneuploidy-screening platforms—single-nucleotide polymorphism array and next-generation sequencing—in the detection of embryo mosaicism
por: Chen, Dongjia, et al.
Publicado: (2022)

Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome
por: Mateo, Robertino Karlo, et al.
Publicado: (2012)

The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin
por: Esho, Temitope, et al.
Publicado: (2023)

Regulation of PDGFC signalling and extracellular matrix composition by FREM1 in mice
por: Wiradjaja, Fenny, et al.
Publicado: (2013)

Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2
por: Ikeda, Shoko, et al.
Publicado: (2020)

Single nucleotide polymorphisms and haplotypes associated with feed efficiency in beef cattle
por: Serão, Nick VL, et al.
Publicado: (2013)

Effects of Single Nucleotide Polymorphism Marker Density on Haplotype Block Partition
por: Kim, Sun Ah, et al.
Publicado: (2016)

FRAS1-related extracellular matrix 3 (FREM3) single-nucleotide polymorphism effects on gene expression, amygdala reactivity and perceptual processing speed: An accelerated aging pathway of depression risk
por: Nikolova, Yuliya S., et al.
Publicado: (2015)

Nucleotide Polymorphisms and Haplotype Diversity of RTCS Gene in China Elite Maize Inbred Lines
por: Zhang, Enying, et al.
Publicado: (2013)

USP38, FREM3, SDC1, DDC, and LOC727982 Gene Polymorphisms and Differential Susceptibility to Severe Malaria in Tanzania
por: Manjurano, Alphaxard, et al.
Publicado: (2015)

Association of the Single-Nucleotide Polymorphism and Haplotype of the Complement Receptor 1 Gene with Malaria
por: Lan, Yan, et al.
Publicado: (2015)

Mining of haplotype-based expressed sequence tag single nucleotide polymorphisms in citrus
por: Chen, Chunxian, et al.
Publicado: (2013)

Amplicon-Based, Next-Generation Sequencing Approaches to Characterize Single Nucleotide Polymorphisms of Orthohantavirus Species
por: Taylor, Mariah K., et al.
Publicado: (2020)

TILRR (FREM1 isoform 2) is a prognostic biomarker correlated with immune infiltration in breast cancer
por: Xu, Xiao-Yi, et al.
Publicado: (2020)

Integrated Bioinformatics Identifies FREM1 as a Diagnostic Gene Signature for Heart Failure
por: Jiang, Chenyang, et al.
Publicado: (2022)

Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas
por: Kantaputra, Piranit Nik, et al.
Publicado: (2023)

Performance of Single Nucleotide Polymorphisms versus Haplotypes for Genome-Wide Association Analysis in Barley
por: Lorenz, Aaron J., et al.
Publicado: (2010)

Gene-based single nucleotide polymorphism discovery in bovine muscle using next-generation transcriptomic sequencing
por: Djari, Anis, et al.
Publicado: (2013)

Detection of nasopharyngeal carcinoma susceptibility with single nucleotide polymorphism analysis using next-generation sequencing technology
por: Wu, Mu-Yun, et al.
Publicado: (2017)

Corrigendum: Amplicon-Based, Next-Generation Sequencing Approaches to Characterize Single Nucleotide Polymorphisms of Orthohantavirus Species
por: Taylor, Mariah K., et al.
Publicado: (2022)

PoolHap: Inferring Haplotype Frequencies from Pooled Samples by Next Generation Sequencing
por: Long, Quan, et al.
Publicado: (2011)

Usefulness of Next-Generation Sequencing in Excluding Bovine Leukemia Virus as a Cause of Adult Camel Leukosis in Dromedaries
por: Wernery, Ulrich, et al.
Publicado: (2023)

Cultural Change, Community, and Belonging: Supporting the Next Generation of Surgeons From Groups Historically Excluded From Medicine
por: Jung, Sarah, et al.
Publicado: (2023)

Virtual Terminator nucleotides for next generation DNA sequencing
por: Bowers, Jayson, et al.
Publicado: (2009)

High FREM2 Gene and Protein Expression Are Associated with Favorable Prognosis of IDH-WT Glioblastomas
por: Jovčevska, Ivana, et al.
Publicado: (2019)

Operational characteristics of full random effects modelling (‘frem’) compared to stepwise covariate modelling (‘scm’)
por: Amann, Lisa F., et al.
Publicado: (2023)

Optimized Next-Generation Sequencing Genotype-Haplotype Calling for Genome Variability Analysis
por: Navarro, Javier, et al.
Publicado: (2017)

Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing
por: Neparáczki, Endre, et al.
Publicado: (2017)

The association of six single nucleotide polymorphisms and their haplotypes in CDH13 with T2DM in a Han Chinese population
por: Li, Yiping, et al.
Publicado: (2017)

Microsatellite linkage analysis, single-nucleotide polymorphisms, and haplotype associations with ECB21 in the COGA data
por: Kraja, Aldi T, et al.
Publicado: (2005)

Single nucleotide polymorphism and haplotype effects associated with somatic cell score in German Holstein cattle
por: Abdel-Shafy, Hamdy, et al.
Publicado: (2014)

Comparative study of single-nucleotide polymorphism array and next generation sequencing based strategies on triploid identification in preimplantation genetic diagnosis and screen
por: Xu, Jiawei, et al.
Publicado: (2016)

Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3
por: Beck, Tyler F., et al.
Publicado: (2013)

Meta-Analysis and Experimental Validation Identified FREM2 and SPRY1 as New Glioblastoma Marker Candidates
por: Vidak, Marko, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_no579mn2dpu3qeqcpqp9rfpgjq