List of works - Akanchha Kesari

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

scientific article

Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy

scientific article

Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

scientific article

Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

scientific article published on 02 October 2008

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

scientific article published on 01 December 2018

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study

scientific article

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India

scientific article published on 01 June 2005

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule

scientific article

Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.

scientific article published on 05 January 2009

Molecular diagnostics

scientific article published on 03 September 2013

Muscular Dystrophy: Disease Mechanisms and Therapies

scientific article

Mutation analysis in spinal muscular atrophy using allele-specific polymerase chain reaction

scientific article published on 01 December 2003

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

scientific article

Non-invasive optical imaging of muscle pathology in mdx mice using cathepsin caged near-infrared imaging

scientific article

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

scientific article published on 27 June 2016

Osteopontin is linked with AKT, FoxO1, and myostatin in skeletal muscle cells.

scientific article published on 26 July 2017

PCB congener specific oxidative stress response by microarray analysis using human liver cell line.

scientific article

Prenatal diagnosis of spinal muscular atrophy: Indian scenario

scientific article published on 01 August 2005

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

scientific article

SMN1 dosage analysis in spinal muscular atrophy from India

scientific article

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy

scientific article published on 9 March 2016

Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms

article

Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients

scientific article published on 18 March 2005

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

scientific article published in May 2016

Y chromosome micro-deletions in idiopathic infertility from Northern India

scientific article published on 01 October 2004

List of works by Akanchha Kesari

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy

Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule

Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.

Molecular diagnostics

Muscular Dystrophy: Disease Mechanisms and Therapies

Mutation analysis in spinal muscular atrophy using allele-specific polymerase chain reaction

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Non-invasive optical imaging of muscle pathology in mdx mice using cathepsin caged near-infrared imaging

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

Osteopontin is linked with AKT, FoxO1, and myostatin in skeletal muscle cells.

PCB congener specific oxidative stress response by microarray analysis using human liver cell line.

Prenatal diagnosis of spinal muscular atrophy: Indian scenario

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

SMN1 dosage analysis in spinal muscular atrophy from India

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy

Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms

Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Y chromosome micro-deletions in idiopathic infertility from Northern India