Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly
Sign Up to like & getrecommendations! Published in 2019 at "Developmental Dynamics"
DOI: 10.1002/dvdy.89
Abstract: Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial, postaxial, and central subtypes. The aim of this study was to identify genetically pathogenic factor in a Chinese nonsyndromic polydactyly family. read more here.
Keywords: exome sequencing; family; nonsyndromic polydactyly; sequencing reveals ... See more keywords
High-throughput sequencing reveals the spatial distribution variability of microbial community in coastal waters in Shenzhen
Sign Up to like & getrecommendations! Published in 2021 at "Ecotoxicology"
DOI: 10.1007/s10646-021-02391-9
Abstract: Seashore habitats are located between terrestrial and marine ecosystems, which are a hotspot for anthropogenic impacts. Shenzhen is one of the most developed cities in south China, but the microbial functions of its coastal ecosystems… read more here.
Keywords: community; reveals spatial; variability; sequencing reveals ... See more keywords
Poly(A) RNA sequencing reveals age-related differences in the prefrontal cortex of dogs.
Sign Up to like & getrecommendations! Published in 2022 at "GeroScience"
DOI: 10.1007/s11357-022-00533-3
Abstract: Dogs may possess a unique translational potential to investigate neural aging and dementia because they are prone to age-related cognitive decline, including an Alzheimer's disease-like pathological condition. Yet very little is known about the molecular… read more here.
Keywords: age; rna sequencing; reveals age; age related ... See more keywords
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.02.009
Abstract: We report a 29 week fetus with arthrogryposis multiplex congenita, multiple joint dislocations, scoliosis and dysmorphism who was detected to be double heterozygote for putatively pathogenic FBN1 (NM_000138.4:c.6004C > T; p.Pro2002Ser) and FBN2 (NM_001999.3:c.2945G > T; p.Cys982Phe) variants on… read more here.
Keywords: phenotype double; exome sequencing; reveals blended; double heterozygous ... See more keywords
P2.06-39 Next Generation Sequencing Reveals Genetic Landscape of Malignant Mesothelioma
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Thoracic Oncology"
DOI: 10.1016/j.jtho.2018.08.1294
Abstract: tumorigenesis, progression and prognosis. Murine mesothelioma AB12 and RN5 cells treated with either chemotherapy or g-ray irradiation in culture, were used to compare gene expression profiles. The selected genes were confirmed by real-time PCR, flow… read more here.
Keywords: sequencing reveals; mesothelioma; smart protocol; pre smart ... See more keywords
Genome sequencing reveals Zika virus diversity and spread in the Americas
Sign Up to like & getrecommendations! Published in 2017 at "Nature"
DOI: 10.1038/nature22402
Abstract: Citation for published version: Metsky, HC, Matranga, CB, Wohl, S, Schaffner, SF, Freije, CA, Winnicki, S, West, K, Qu, J, Baniecki, ML, Gladden-Young, A, Lin, AE, Christopher, T-T, Ye, SH, Park, DJ, Luo, C, Barnes,… read more here.
Keywords: reveals zika; zika virus; sequencing reveals; genome sequencing ... See more keywords
Single gametophyte sequencing reveals that crossover events differ between sexes in maize
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-08786-x
Abstract: Meiotic crossover (CO) plays a key role in producing gametophytes and generating genetic variation. The patterns of CO production differ inter- and intra-species, as well as between sexes. However, sex-specific patterns of CO production have… read more here.
Keywords: gametophyte sequencing; genetic backgrounds; gametophyte; single gametophyte ... See more keywords
Genome sequencing reveals metabolic and cellular interdependence in an amoeba-kinetoplastid symbiosis
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-11866-x
Abstract: Endosymbiotic relationships between eukaryotic and prokaryotic cells are common in nature. Endosymbioses between two eukaryotes are also known; cyanobacterium-derived plastids have spread horizontally when one eukaryote assimilated another. A unique instance of a non-photosynthetic, eukaryotic… read more here.
Keywords: kinetoplastid; amoeba; sequencing reveals; genome sequencing ... See more keywords
Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0041-1726282
Abstract: Congenital scoliosis (CS) is a lateral curvature of the spine characterized by the presence of vertebral anomalies. Pathogenic genetic variants in the TBX6 gene are one of the causes of CS. However, since many clinically… read more here.
Keywords: congenital scoliosis; novo variants; exome sequencing; sequencing reveals ... See more keywords
High-throughput sequencing reveals circular substrates for an archaeal RNA ligase
Sign Up to like & getrecommendations! Published in 2017 at "RNA Biology"
DOI: 10.1080/15476286.2017.1302640
Abstract: ABSTRACT It is only recently that the abundant presence of circular RNAs (circRNAs) in all kingdoms of Life, including the hyperthermophilic archaeon Pyrococcus abyssi, has emerged. This led us to investigate the physiologic significance of… read more here.
Keywords: rna ligase; reveals circular; sequencing reveals; throughput sequencing ... See more keywords
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.
Sign Up to like & getrecommendations! Published in 2021 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2021.0085
Abstract: Aim: Our goal was to determine the genetic basis of early-onset myopathy in patients from two unrelated families. Materials and Methods: Whole-exome sequencing, autozygosity mapping, and confirmatory targeted Sanger sequencing were performed using genomic DNA… read more here.
Keywords: year old; variant; reveals novel; sequencing reveals ... See more keywords