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SMN1 wt Allele

Known as: SMNT, Survival Motor Neuron 1 Protein Gene, Survival of Motor Neuron, Telomeric Copy Gene 
Human SMN1 wild-type allele is located in the vicinity of 5q13.2 and is approximately 29 kb in length. This allele, which encodes survival motor… 
National Institutes of Health

Related topics

Related topics

4 relations
Muscular Atrophy, Spinal, Type IIRNA Splicingprotein protein interaction

Broader (1)

SMN1 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Nusinersen Treatment in Adults with SMA - the First Year Experience at a Large Center (S5.007)
Objective: To report our experience with Nusinersen in adult patients with SMA. Background: Spinal muscular atrophy (SMA) is a… 
2019
2019
A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2
Dear Editor, Spinal muscular atrophy (SMA) is caused by homozygous deletion of the survival motor neuron gene (SMN1), and copy… 
2017
2017
Spinal Muscular Atrophy and Ependymoma
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn… 
2011
2011
Smn deficiency causes neuritogenesis and neurogenesis defects in the retinal neurons of a mouse model of spinal muscular atrophy
The eye is an excellent model for the study of neuronal development and pathogenesis of central nervous system disorders because… 
2009
2009
Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies
Unbalanced chromosomal abnormalities are frequent and account for about 10% of all chromosomal abnormalities identified in live… 
2005
2005
Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy.
OBJECTIVE To construct a method for detecting the copy number of survival of motor neuron 1 gene (SMN1) with single copy… 
2001
2001
Spectrum of floppy children in Indian scenario.
OBJECTIVE To study the clinical profile of paralytic floppy infants undertaking available investigations and detect the frequency… 
Highly Cited
1997
Highly Cited
1997
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7
ABSTRACTThe telomeric survival motor neuron (SMNT gene is a valuable molecular diagnostic tool for childhood-onset spinal… 
1988
1988
Maturation antigen of the mouse sperm flagellum. I. Analysis of its secretion, association with sperm, and function.
We report here recent findings on the sperm maturation antigen SMA4, which is secreted by holocrine cells of the distal caput… 
1987
1987
Maturation antigen of the mouse sperm flagellum: II. Origin from holocrine cells of the distal caput epididymis
During epididymal transit, the mouse sperm flagellum acquires a surface glycoprotein (SMA4) from epididymal fluid that functions… 
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