Cargando…

Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations

Genetic perturbations in nicotinamide adenine dinucleotide de novo (NAD) synthesis pathway predispose individuals to congenital birth defects. The NADSYN1 encodes the final enzyme in the de novo NAD synthesis pathway and, therefore, plays an important role in NAD metabolism and organ embryogenesis....

Descripción completa

Detalles Bibliográficos
Autores principales:	Lin, Jiachen, Zhao, Lina, Zhao, Sen, Li, Shengjie, Zhao, Zhengye, Chen, Zefu, Zheng, Zhifa, Shao, Jiashen, Niu, Yuchen, Li, Xiaoxin, Zhang, Jianguo Terry, Wu, Zhihong, Wu, Nan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535205/ https://www.ncbi.nlm.nih.gov/pubmed/34681008 http://dx.doi.org/10.3390/genes12101615

Ejemplares similares

Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism
por: Liu, Bowen, et al.
Publicado: (2021)

Deciphering the mutational signature of congenital limb malformations
por: Sun, Liying, et al.
Publicado: (2021)

Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis
por: Chen, Zefu, et al.
Publicado: (2020)

Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature
por: Gui, Baoheng, et al.
Publicado: (2021)

The Mutational Landscape of PTK7 in Congenital Scoliosis and Adolescent Idiopathic Scoliosis
por: Su, Zhe, et al.
Publicado: (2021)

Whole-genome methylation analysis reveals novel epigenetic perturbations of congenital scoliosis
por: Liu, Gang, et al.
Publicado: (2021)

Mutational burden and potential oligogenic model of TBX6‐mediated genes in congenital scoliosis
por: Yang, Yang, et al.
Publicado: (2020)

Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly
por: Sun, Liying, et al.
Publicado: (2022)

The mesenchymal circulating tumor cells as biomarker for prognosis prediction and supervision in hepatocellular carcinoma
por: Zhao, Lina, et al.
Publicado: (2023)

Progress and perspective of TBX6 gene in congenital vertebral malformations
por: Chen, Weisheng, et al.
Publicado: (2016)

The identification of PAX7 variants and a potential role of muscle development dysfunction in congenital scoliosis
por: Wang, Muchuan, et al.
Publicado: (2022)

Novel FGFR1 Variants Are Associated with Congenital Scoliosis
por: Wang, Shengru, et al.
Publicado: (2021)

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia
por: Shao, Jiashen, et al.
Publicado: (2020)

Factors and predictive model associated with perioperative complications after long fusion in the treatment of adult non-degenerative scoliosis
por: Wu, Nan, et al.
Publicado: (2021)

Polymorphisms in GC and NADSYN1 Genes are associated with vitamin D status and metabolic profile in Non-diabetic adults
por: Foucan, Lydia, et al.
Publicado: (2013)

Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes
por: Xu, Xinjuan, et al.
Publicado: (2015)

Transplantation of Human Umbilical Cord Blood-Derived Mesenchymal Stem Cells Improves Cartilage Repair in a Rabbit Model
por: Yang, Guihua, et al.
Publicado: (2021)

Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients
por: Yu, Chenxi, et al.
Publicado: (2021)

Clinical characteristics and offspring developmental malformation of 126 patients with septate uterus
por: Zhao, Zichen, et al.
Publicado: (2023)

Functional and In Silico Assessment of GDF3 Gene Variants in a Chinese Congenital Scoliosis Population
por: Chen, Jia, et al.
Publicado: (2018)

Congenital malformations in the vertebral column: associations and possible embryologic origins
por: Plessis, Anneli M. Du, et al.
Publicado: (2022)

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
por: Wang, Kun, et al.
Publicado: (2018)

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome
por: Li, Ziquan, et al.
Publicado: (2020)

Impact of sarcopenia and sagittal parameters on the residual back pain after percutaneous vertebroplasty in patients with osteoporotic vertebral compression fracture
por: Bo, Jiashen, et al.
Publicado: (2022)

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
por: Zhao, Sen, et al.
Publicado: (2022)

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants
por: Tian, Wen, et al.
Publicado: (2020)

Genetic polymorphisms of GPR126 are functionally associated with PUMC classifications of adolescent idiopathic scoliosis in a Northern Han population
por: Liu, Gang, et al.
Publicado: (2018)

Identification of novel FBN1 variations implicated in congenital scoliosis
por: Lin, Mao, et al.
Publicado: (2019)

LRP5-Mediated Lipid Uptake Modulates Osteogenic Differentiation of Bone Marrow Mesenchymal Stromal Cells
por: Lin, Jiachen, et al.
Publicado: (2021)

Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations
por: Ghebranious, Nader, et al.
Publicado: (2007)

Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral Malformation
por: Barhoumi, Tlili, et al.
Publicado: (2019)

The Progress of CRISPR/Cas9-Mediated Gene Editing in Generating Mouse/Zebrafish Models of Human Skeletal Diseases
por: Wu, Nan, et al.
Publicado: (2019)

Profiles of Vertebral Artery Dissection with Congenital Craniovertebral Junction Malformation: Four New Cases and a Literature Review
por: Xue, Sufang, et al.
Publicado: (2020)

Transnasal Endoscopic Approach for Resection of a Cavernous Sinus Cavernous Malformation
por: Zhao, Lei, et al.
Publicado: (2023)

Congenital bronchopulmonary foregut malformation: systematic review of the literature
por: Yang, Gang, et al.
Publicado: (2019)

Evaluation of the Inheritance of the Complex Vertebral Malformation Syndrome by Breeding Studies
por: Agerholm, JS, et al.
Publicado: (2004)

Effects of Complex Vertebral Malformation on Fertility in Swedish Holstein Cattle
por: Berglund, Britt, et al.
Publicado: (2004)

Bisphenol A induces otolith malformations during vertebrate embryogenesis
por: Gibert, Yann, et al.
Publicado: (2011)

ADAMTS5 in Osteoarthritis: Biological Functions, Regulatory Network, and Potential Targeting Therapies
por: Jiang, Lejian, et al.
Publicado: (2021)

Congenital Malformations
Publicado: (1904)

Cannot write session to /tmp/vufind_sessions/sess_7gknana07egdvsrtlkgpcek7d3