Shamita Sanga
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View article: Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure
Novel truncating Desmin mutation Arg150Stop disrupts structural integrity and cellular homeostasis by formation of persistent aggregate-like structure Open
Desminopathies are a heterogeneous group of myofibrillar myopathies defined by the presence of desmin-positive aggregates that compromise cytoskeletal integrity in skeletal and cardiac muscle. Although desmin knockout models and several tr…
View article: Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy
Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy Open
View article: Identification of a shared, common haplotype segregating with an SGCB c.544T>G mutation in Indian patients affected with sarcoglycanopathy
Identification of a shared, common haplotype segregating with an SGCB c.544T>G mutation in Indian patients affected with sarcoglycanopathy Open
Sarcoglycanopathy is the most frequent form of autosomal recessive limb-girdle muscular dystrophies caused by mutations in SGCB gene encoding beta-sarcoglycan proteins. In this study, we describe a shared, common haplotype co-segregating i…
View article: Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene
Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene Open
The sarcoglycanopathies are autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by the mutations in genes encoding the α, β, γ, and δ proteins which stabilizes the sarcolemma of muscle cells. The clinical phenotype is chara…
View article: A whole-exome analysis of non-syndromic hearing loss patients from India reveals a wide spectrum of known and novel mutations
A whole-exome analysis of non-syndromic hearing loss patients from India reveals a wide spectrum of known and novel mutations Open
Background Non-syndromic hearing loss (NSHL) is characterized by congenital mild-to-profound sensorineural hearing impairment. It affects 1 in 1000 neonates in India. While we have a large genetically deaf population in India, our knowledg…
View article: P142: Whole-exome analyses of non-syndromic hearing loss patients from India reveal a wide spectrum of known and novel mutations*
P142: Whole-exome analyses of non-syndromic hearing loss patients from India reveal a wide spectrum of known and novel mutations* Open
View article: Identification of a shared, common haplotype cosegregating with an <i>SGCB</i> c.544A>C mutation in Indian patients affected with sarcoglycanopathy
Identification of a shared, common haplotype cosegregating with an <i>SGCB</i> c.544A>C mutation in Indian patients affected with sarcoglycanopathy Open
Background Sarcoglycanopathies (SG) is the most frequent form of autosomal recessive limb-girdle muscular dystrophies (LGMD) leading to progressive muscle wasting and weakness, predominantly characterized by limb-girdle weakness. LGMDR4 is…