Cargando…

Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India

Detalles Bibliográficos
Autores principales:	Ranganath, Prajnya, Sharma, Vishakha, Danda, Sumita, Nandineni, Madhusudan R., Dalal, Ashwin B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2012
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612311/ https://www.ncbi.nlm.nih.gov/pubmed/23391804

Ejemplares similares

A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene
por: Hassan, Moath, et al.
Publicado: (2021)

Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature
por: Cao, Lan-Xiao, et al.
Publicado: (2021)

Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption
por: Kho, Ikhui, et al.
Publicado: (2023)

Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population
por: Uttarilli, Anusha, et al.
Publicado: (2014)

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome
por: Nandagopalan, Rajashree S., et al.
Publicado: (2014)

Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations
por: Han, Min-Joon, et al.
Publicado: (2020)

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child
por: Maroofian, Reza, et al.
Publicado: (2018)

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients
por: Arora, Veronica, et al.
Publicado: (2020)

Myoclonus generators in sialidosis
por: Vial, Felipe, et al.
Publicado: (2022)

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
por: Nampoothiri, Sheela, et al.
Publicado: (2020)

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI
por: Uttarilli, Anusha, et al.
Publicado: (2015)

Neuraminidase 1 (NEU1) promotes proliferation and migration as a diagnostic and prognostic biomarker of hepatocellular carcinoma
por: Hou, Guojun, et al.
Publicado: (2016)

Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders
por: Vanaja, Maria Celestina, et al.
Publicado: (2023)

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
por: Mütze, Ulrike, et al.
Publicado: (2016)

Antibody against Microbial Neuraminidases Recognizes Human Sialidase 3 (NEU3): the Neuraminidase/Sialidase Superfamily Revisited
por: Feng, Chiguang, et al.
Publicado: (2017)

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement
por: Mohammad, Ahmed N., et al.
Publicado: (2018)

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1
por: Han, Xiaoxu, et al.
Publicado: (2020)

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
por: Gultekin, Murat, et al.
Publicado: (2018)

Hematopoietic cell transplantation for sialidosis type I
por: Gupta, Ashish O., et al.
Publicado: (2021)

Ascites in infantile onset type II Sialidosis
por: Tazi, Kaoutar, et al.
Publicado: (2022)

Bergmeister’s papilla in a young patient with type 1 sialidosis: case report
por: Rossi, Settimio, et al.
Publicado: (2020)

The genetic affinities of Gujjar and Ladakhi populations of India
por: Singh, Mugdha, et al.
Publicado: (2020)

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I
por: Mosca, Rosario, et al.
Publicado: (2020)

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
por: Sheth, Jayesh, et al.
Publicado: (2019)

Seizure remission and improvement of neurological function in sialidosis with perampanel therapy
por: Hu, Su-Ching, et al.
Publicado: (2018)

The role of neuraminidase inhibitors in the treatment and prevention of influenza
por: Naem, Shahrour
Publicado: (2001)

Neuraminidase Antibodies and H5N1: Geographic-Dependent Influenza Epidemiology Could Determine Cross-Protection against Emerging Strains
por: Bermejo-Martin, Jesus F, et al.
Publicado: (2007)

MicroRNA-155 and Its Role in Malignant Hematopoiesis
por: Ranganath, Prajnya
Publicado: (2015)

Spectral optical coherence tomography in a patient with type I sialidosis
por: Michalewska, Zofia, et al.
Publicado: (2011)

Optical coherence tomography features in a case of Type I sialidosis
por: Wang, I-Hua, et al.
Publicado: (2017)

Clinical and genetic characteristics of type I sialidosis patients in mainland China
por: Lv, Rui‐Juan, et al.
Publicado: (2020)

Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1
por: Mukherjee, Debaleena, et al.
Publicado: (2021)

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder
por: Khan, Aiza, et al.
Publicado: (2018)

Corrigendum: Optical coherence tomography features in a case of Type I sialidosis
Publicado: (2020)

Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II
por: Eyskens, Margot, et al.
Publicado: (2023)

Consecutive influenza surveillance of neuraminidase mutations and neuraminidase inhibitor resistance in Japan
por: Chong, Yong, et al.
Publicado: (2019)

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients
por: Coppola, Antonietta, et al.
Publicado: (2020)

Genome sequencing and comparative genomics reveal a repertoire of putative pathogenicity genes in chilli anthracnose fungus Colletotrichum truncatum
por: Rao, Soumya, et al.
Publicado: (2017)

Looking “Cherry Red Spot Myoclonus” in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1
por: Riboldi, Giulietta M., et al.
Publicado: (2021)

Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
por: Neeraja, Koti, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_dg7n8idf1iot09l4n7cqhvd76k