Cargando…

Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review

Aims and Rationale: The inner retina is supplied by three intraretinal capillary plexi whereas the outer retina is supplied by the choroidal circulation: NDP is essential for normal intraretinal vascularisation. Pathogenic variants in NDP (Xp11.3) may result in either a severe retinal phenotype asso...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wawrzynski, James, Patel, Aara, Badran, Abdul, Dowell, Isaac, Henderson, Robert, Sowden, Jane C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149367/ https://www.ncbi.nlm.nih.gov/pubmed/35651932 http://dx.doi.org/10.3389/fgene.2022.884722

Ejemplares similares

Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR
por: Musada, Ganeswara Rao, et al.
Publicado: (2016)

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy
por: Tao, Tianchang, et al.
Publicado: (2021)

Ocular manifestations of Chinese patients with copy number variants in the NDP gene
por: Huang, Li, et al.
Publicado: (2022)

Role of Mitochondrial Mutations in Ocular Aggregopathy
por: Chakraborty, Munmun, et al.
Publicado: (2022)

Mutation of SALL2 causes recessive ocular coloboma in humans and mice
por: Kelberman, Daniel, et al.
Publicado: (2014)

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
por: Deml, Brett, et al.
Publicado: (2016)

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease
por: Pauzuolyte, Valda, et al.
Publicado: (2023)

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease
por: Liu, Deyuan, et al.
Publicado: (2010)

Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer
por: Bugoye, Fidelis Charles, et al.
Publicado: (2023)

Dual NDP52 Function in Persistent CSFV Infection
por: Fan, Shuangqi, et al.
Publicado: (2020)

NDP-related retinopathies: clinical phenotype of female carriers
por: Huang, Li, et al.
Publicado: (2023)

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype
por: Simunovic, Matthew P., et al.
Publicado: (2016)

ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum
por: Liu, Zhixu, et al.
Publicado: (2021)

Interactions of the Melanocortin-4 Receptor with the Peptide Agonist NDP-MSH
por: Chapman, Kathryn L., et al.
Publicado: (2010)

Handcuffs for bacteria - NDP52 orchestrates xenophagy of intracellular Salmonella
por: Verlhac, Pauline, et al.
Publicado: (2015)

The Role of Autophagy and Autophagy Receptor NDP52 in Microbial Infections
por: Fan, Shuangqi, et al.
Publicado: (2020)

A conservative distribution of tridomain NDP-heptose synthetases in actinobacteria
por: Tang, Yue, et al.
Publicado: (2021)

Corrigendum: Dual NDP52 Function in Persistent CSFV Infection
por: Fan, Shuangqi, et al.
Publicado: (2021)

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease
por: Huang, Xiaoyan, et al.
Publicado: (2017)

Baicalein Activates Parkin-Dependent Mitophagy through NDP52 and OPTN
por: Ke, Po-Yuan, et al.
Publicado: (2022)

Expression of the nm23-2/NDP kinase alpha gene in rat mammary and oral carcinoma cells of varying metastatic potential.
por: Henderson, B. R.
Publicado: (1993)

TP53 Mutation Spectrum in Smokers and Never Smoking Lung Cancer Patients
por: Halvorsen, Ann R., et al.
Publicado: (2016)

Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province
por: Xie, Kang, et al.
Publicado: (2022)

Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway
por: Han, Shuai, et al.
Publicado: (2020)

De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis
por: Alonso-Gonzalez, Aitana, et al.
Publicado: (2018)

Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma
por: Lan, Xiaoping, et al.
Publicado: (2020)

Prevalence and Spectrum of Predisposition Genes With Germline Mutations Among Chinese Patients With Bowel Cancer
por: Xie, Zhengyong, et al.
Publicado: (2022)

Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2–5
por: Wang, Xiaoyuan, et al.
Publicado: (2021)

Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution
por: Leong, Yeh Chwan, et al.
Publicado: (2022)

Expanded Somatic Mutation Spectrum of MED12 Gene in Uterine Leiomyomas of Saudi Arabian Women
por: Ajabnoor, Ghada M. A., et al.
Publicado: (2018)

Phenotypic spectrum of FGF10-related disorders: a systematic review
por: Bzdega, Katarzyna, et al.
Publicado: (2022)

The Spectrum of Beta-thalassemia Mutations in Couples Referred for Chorionic Villus Sampling at Bahawal Victoria Hospital, Bahawalpur
por: Zafar, Uffan, et al.
Publicado: (2018)

Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen
por: Chen, Peikai, et al.
Publicado: (2022)

The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation
por: Wu, Su, et al.
Publicado: (2022)

Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients
por: Ma, Yan, et al.
Publicado: (2023)

NDP52 activates nuclear myosin VI to enhance RNA polymerase II transcription
por: Fili, Natalia, et al.
Publicado: (2017)

VN-NDP: A Neighbor Discovery Protocol Based on Virtual Nodes in Mobile WSNs
por: Zhang, Yuanyuan, et al.
Publicado: (2019)

Crosstalk Between NDP52 and LUBAC in Innate Immune Responses, Cell Death, and Xenophagy
por: Miyashita, Hirohisa, et al.
Publicado: (2021)

Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion of NDP
por: Gong, Yuerong, et al.
Publicado: (2022)

NDP52 acts as a redox sensor in PINK1/Parkin‐mediated mitophagy
por: Kataura, Tetsushi, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_m5316uu2tm9tndaulflrb0jig1