Cargando…

Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing

Muscular Dystrophies (MDs) are a group of inherited diseases and heterogeneous in nature. To date, 40 different genes have been reported for the occurrence and/or progression of MDs. This study was conducted to demonstrate the application of next-generation sequencing (NGS) in developing a time-savi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Patel, Komal M., Bhatt, Arpan D., Shah, Krati, Waghela, Bhargav N., Pandit, Ramesh J., Sheth, Harsh, Joshi, Chaitanya G., Joshi, Madhvi N.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8679082/ https://www.ncbi.nlm.nih.gov/pubmed/34925456 http://dx.doi.org/10.3389/fgene.2021.770350

Ejemplares similares

Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India
por: Bhatt, Arpan, et al.
Publicado: (2019)

First report on genome wide association study in western Indian population reveals host genetic factors for COVID-19 severity and outcome
por: Pandit, Ramesh, et al.
Publicado: (2022)

Genomic Variations in SARS-CoV-2 Genomes From Gujarat: Underlying Role of Variants in Disease Epidemiology
por: Joshi, Madhvi, et al.
Publicado: (2021)

A combined approach of DNA metabarcoding collectively enhances the detection efficiency of medicinal plants in single and polyherbal formulations
por: Travadi, Tasnim, et al.
Publicado: (2023)

Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening
por: Kadri, Mohammed Shaad N., et al.
Publicado: (2021)

Electrocardiographic Changes in Jordanian Patients With Becker Muscular Dystrophy
por: Al-Raqad, Mohammed K, et al.
Publicado: (2023)

Combined Therapies for Duchenne Muscular Dystrophy to Optimize Treatment Efficacy
por: Cordova, Gonzalo, et al.
Publicado: (2018)

Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy
por: Dhaliwal, Amaninder, et al.
Publicado: (2019)

Nasopharyngeal microbiome of COVID-19 patients revealed a distinct bacterial profile in deceased and recovered individuals
por: Kumar, Dinesh, et al.
Publicado: (2022)

Duchenne Muscular Dystrophy Presenting as Incidental Hyper-Transaminasasemia in a Two-Month-Old Male
por: Chibuzo, Uzoego N, et al.
Publicado: (2023)

Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients
por: Lu, Xinguo, et al.
Publicado: (2021)

Congenital Muscular Dystrophy Due to Merosin Deficiency: Report of a New Mutation
por: Herrera Malpica, Wilmer Santiago, et al.
Publicado: (2023)

In-Depth Analysis of an Obligate Anaerobe Paraclostridium bifermentans Isolated from Uterus of Bubalus bubalis
por: Gohil, Purva, et al.
Publicado: (2022)

Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy
por: Kiselev, Artem, et al.
Publicado: (2019)

Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy
por: Xie, Zhiying, et al.
Publicado: (2022)

Novel Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy
por: Peddareddygari, Leema Reddy, et al.
Publicado: (2022)

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation
por: Cesar, Sergi, et al.
Publicado: (2023)

Choked: A Case Report of Oculopharyngeal Muscular Dystrophy Mimicking Hypothyroidism From the Philippines
por: Infante, Jerome M, et al.
Publicado: (2023)

Genetic sequencing detected the SARS-CoV-2 delta variant in wastewater a month prior to the first COVID-19 case in Ahmedabad (India)()
por: Joshi, Madhvi, et al.
Publicado: (2022)

Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy
por: Zhou, Jing, et al.
Publicado: (2018)

Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease
por: Chung Tran, Nam, et al.
Publicado: (2023)

Microbial diversity and community composition of caecal microbiota in commercial and indigenous Indian chickens determined using 16s rDNA amplicon sequencing
por: Pandit, Ramesh J., et al.
Publicado: (2018)

Evolutionary and Antigenic Profiling of the Tendentious D614G Mutation of SARS-CoV-2 in Gujarat, India
por: Nimavat, Jay, et al.
Publicado: (2021)

Surveillance and Molecular Characterization of SARS-CoV-2 Infection in Non-Human Hosts in Gujarat, India
por: Kumar, Dinesh, et al.
Publicado: (2022)

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy
por: Chausova, P. A., et al.
Publicado: (2021)

Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement of EMD and FLNA in Emery-Dreifuss Muscular Dystrophy
por: Song, Danyu, et al.
Publicado: (2021)

Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
por: Xia, Yu, et al.
Publicado: (2021)

Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos
por: Quilacio, Joanna May S, et al.
Publicado: (2022)

Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
por: Xia, Yu, et al.
Publicado: (2021)

A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family
por: Qin, Yayun, et al.
Publicado: (2022)

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients
por: Tran, Van Khanh, et al.
Publicado: (2023)

Metagenomic data of DNA viruses of poultry affected with respiratory tract infection
por: Sajnani, Manisha R., et al.
Publicado: (2017)

Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China
por: Kong, Lingrong, et al.
Publicado: (2021)

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients
por: Fan, Yanbin, et al.
Publicado: (2022)

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
por: Diaz-Lombana, Natalia, et al.
Publicado: (2023)

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
por: Berntsson, Shala Ghaderi, et al.
Publicado: (2023)

Metagenomic dataset on lichen Dirinaria sp. from the Great Rann of Kutch and tropical moist deciduous Dang forest of Gujarat
por: Puvar, Apurvasinh, et al.
Publicado: (2020)

Exploring the Dynamics of Caring for a Child With a Terminal Illness of Duchenne Muscular Dystrophy (DMD) and Its Copious Components on the Caregivers
por: Balidemaj, Adelina, et al.
Publicado: (2023)

Diversity and Distribution of β-Lactamase Genes Circulating in Indian Isolates of Multidrug-Resistant Klebsiella pneumoniae
por: Shukla, Suraj, et al.
Publicado: (2023)

Progressive Muscular Dystrophy (Erb.)
por: Mookerjee, N. L.
Publicado: (1915)

Cannot write session to /tmp/vufind_sessions/sess_lfjvvi319ce8ba6aetuhjj62cu