LAUSR

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

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1 Published in 2021 at "Human Mutation"

DOI: 10.1002/humu.24200

Abstract: Spinal muscular atrophy (SMA) is caused by bi‐allelic loss or pathogenic variants in the SMN1 gene. SMN2, the highly homologous copy of SMN1, is considered the major phenotypic modifier of the disease. Determination of SMN2… read more here.

Keywords: copy number; versatile method; sma; smn2 ... See more keywords

A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy.

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2 Published in 2022 at "Human molecular genetics"

DOI: 10.1093/hmg/ddac260

Abstract: Spinal muscular atrophy (SMA) is a fatal neuromuscular disease caused by homozygous deletions or mutations of the SMN1 gene. SMN2 is a paralogous gene of SMN1 and a modifying gene of SMA. A better understanding… read more here.

Keywords: smn2; spinal muscular; smn2 exon; muscular atrophy ... See more keywords

Discrepancy in redetermination of SMN2 copy numbers in children with SMA

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1 Published in 2019 at "Neurology"

DOI: 10.1212/wnl.0000000000007836

Abstract: Spinal muscular atrophy (SMA) is a rare autosomal recessive inherited neuromuscular disease with an incidence of about 1:6,000 to 1:10,000 in newborns. The clinical spectrum of severity is broad and ranges from early and severe… read more here.

Keywords: discrepancy redetermination; smn protein; copy; smn2 copy ... See more keywords

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

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2 Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23158289

Abstract: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1,… read more here.

Keywords: smn2; spinal muscular; variant smn2; muscular atrophy ... See more keywords

NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression

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1 Published in 2022 at "Neural Regeneration Research"

DOI: 10.4103/1673-5374.339005

Abstract: [INLINE:1] Spinal muscular atrophy (SMA) is a rare hereditary neuromuscular disease with a high lethality rate in infants. Variants in the homologous genes survival of motor neuron (SMN)1 and SMN2 have been reported to be… read more here.

Keywords: smn2; ucac motif; smn2 exon; expression ... See more keywords