نتایج جستجو برای: sgca
تعداد نتایج: 49 فیلتر نتایج به سال:
Temporomandibular disorder (TMD) is a musculoskeletal condition characterized by pain and reduced function in the temporomandibular joint and/or associated masticatory musculature. Prevalence in the United States is 5% and twice as high among women as men. We conducted a discovery genome-wide association study (GWAS) of TMD in 10,153 participants (769 cases, 9,384 controls) of the US Hispanic C...
lead to muscular dystrophies: Duchenne/Becker dystrophy, associated to dystrophin protein defects, congenital dystrophy, due to laminin-2 absence, and sarcoglycanopathies, a subset of limb-girdle muscular dystrophies (LGMD) related to deficiency of the sarcoglycans (Straub & Campbell, 1997). Mutations in the α-sarcoglycan gene (Sgca), causing the lack or alterations of the protein, are responsi...
This paper shows that the Gerund Phrase (GP) in the Spanish Gerund Construction (e.g., El jefe entró a su oficina corriendo, lit. ‘The boss entered his office running’) is sometimes a complement (in SGCC) and sometimes an adjunct (in SGCA). Although in both cases, the GP expresses a non-argument of the main lexical verb's denotation, it is a syntactic adjunct in SGCA and a syntactic dependent o...
the sarcoglycanopathies (sgps) are a subgroup of autosomal recessive limb girdle muscular dystrophies (lgmds). they are caused by mutations in gamma, alpha, beta, and delta sarcoglycans (sgs) genes. alpha-sgps are the most frequent form of sgps. muscle biopsy studies in patients with sarcoglycanopathies have indicated that loss of one sg subunit leads to instability of whole sg complex. autozy...
This paper shows that the Gerund Phrase (GP) in the Spanish Gerund Construction (e.g., El jefe entró a su oficina corriendo, lit. ‘The boss entered his office running’) is sometimes a complement (in SGCC) and sometimes an adjunct (in SGCA). Although in both cases, the GP expresses a non-argument of the main lexical verb's denotation, it is a syntactic adjunct in SGCA and a syntactic dependent o...
Limb-girdle muscular dystrophy type 2D (LGMD2D) is a rare autosomal-recessive disease, affecting striated muscle, due to mutation of SGCA, the gene coding for α-sarcoglycan. Nowadays, more than 50 different SGCA missense mutations have been reported. They are supposed to impact folding and trafficking of α-sarcoglycan because the defective polypeptide, although potentially functional, is recogn...
Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles. Among them are sarcoglycanopathies caused by mutations in at least four genes named SGCA, SGCB, SGCG and SGCD. Here we report a consanguineous Iranian family with two c...
The purpose of this study was to assess the behavior of pseudotyped recombinant adeno-associated virus type 1 (rAAV2/1) vector genomes in dystrophic skeletal muscle. A comparison was made between a therapeutic vector and a reporter vector by injecting the hindlimb in a mouse model of Limb Girdle Muscular Dystrophy Type 2D (LGMD-2D) prior to disease onset. We hypothesized that the therapeutic ve...
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