Results 211 to 220 of about 12,639 (247)

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

neurogenetics, 2021
Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide, is an early-onset motor neuron disease characterized by loss of α-motor neurons and associated muscle atrophy. SMA is caused by deletion or other disabling mutations of survival motor neuron 1 (SMN1) but retention of one or more copies of the paralog SMN2. Within
Deborah L. Stabley, Jennifer Holbrook, Mena Scavina, Thomas O. Crawford, Kathryn J. Swoboda, Katherine M. Robbins, Matthew E. R. Butchbach   +6 more
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Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy

Neuromuscular Disorders, 2007
Spinal muscular atrophy (SMA) is caused by homozygous deletion of the SMN1 gene in approximately 96% of cases. Four percent of SMA patients have a combination of the deletion or conversion on one allele and an intragenic mutation on the second one.
Eva, Zapletalová, Petra, Hedvicáková, Libor, Kozák, Petr, Vondrácek, Renata, Gaillyová, Tat'ána, Maríková, Zdenek, Kalina, Vera, Jüttnerová, Jirí, Fajkus, Lenka, Fajkusová   +9 more
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A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches

Neuromuscular Disorders, 2008
In most patients with infantile spinal muscular atrophy (SMA) both exons 7 and 8 of the SMN1 gene are deleted, but the deletion may also be restricted to exon 7. We report on an SMA type I patient who was initially diagnosed to be homozygous for an exon 7 deletion only.
Thomas, Eggermann, Katja, Eggermann, Miriam, Elbracht, Klaus, Zerres, Sabine, Rudnik-Schöneborn   +4 more
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Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1

Journal of Child Neurology, 2014
Proximal spinal muscular atrophy is an autosomal recessive disorder characterized by symmetrical muscle weakness due to degeneration of alpha motor neurons in the spinal cord. Homozygous deletions in the SMN1 have been reported in more than 90% of spinal muscular atrophy cases.
Hamid, Ganji, Nayereh, Nouri, Mansoor, Salehi, Omid, Aryani, Massoud, Houshmand, Keivan, Basiri, Esmat, Fazel-Najafabadi, Maryam, Sedghi   +7 more
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Spinal muscular atrophy carriers with two SMN1 copies

Brain and Development, 2017
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Over 95% of SMA patients have homozygous deletions of the SMA-causative gene, SMN1. Thus, SMA carriers are usually diagnosed based on SMN1 copy number, with one copy indicating SMA carrier status. However, two SMN1 copies do not always exclude carrier status. In this study,
Mawaddah, Ar Rochmah, Hiroyuki, Awano, Tomonari, Awaya, Nur Imma Fatimah, Harahap, Naoya, Morisada, Yoshihiro, Bouike, Toshio, Saito, Yuji, Kubo, Kayoko, Saito, Poh San, Lai, Ichiro, Morioka, Kazumoto, Iijima, Hisahide, Nishio, Masakazu, Shinohara   +13 more
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SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1

Russian Journal of Genetics, 2015
Type I–IV proximal spinal muscular atrophy (SMA) is one of the most common autosomal-recessive diseases, which are characterized in the majority of cases by a severely disabling course. Proximal SMA results from mutations in the telomeric copy of SMN1 gene.
V. V. Zabnenkova, E. L. Dadali, S. B. Artemieva, I. V. Sharkova, G. E. Rudenskaya, A. V. Polyakov   +5 more
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Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

Human Mutation, 2004
Spinal muscular atrophy (SMA) is a common autosomal recessive disease. SMA is linked to the 5q13 locus in 95% of patients, and in at least 98% of them, the SMN1 homozygous deletion is found. Compound heterozygous patients, who have an SMN1 deletion associated with a subtle mutation, appear undeleted with the common molecular diagnostic test that ...
Olivier, Clermont, Philippe, Burlet, Paule, Benit, Dominique, Chanterau, Pascale, Saugier-Veber, Arnold, Munnich, Veronica, Cusin   +6 more
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Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

Human Genetics, 2002
Autosomal recessive spinal muscular atrophy (SMA) is a disease resulting from mutations in the telomeric survival motor neuron gene ( SMN1). In our sample of 150 Spanish SMA families, 87% of patients had homozygous deletions of SMN1. To identify patients who retained a single SMN1 copy, SMN dosage analysis was performed by a fluorescent quantitative ...
Yolanda, Martín, Ana, Valero, Emilia, del Castillo, Samuel I, Pascual, Concepción, Hernández-Chico   +4 more
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Subtle Mutation Detection of SMN1 Gene in Chinese Spinal Muscular Atrophy Patients: Implication of Molecular Diagnostic Procedure for SMN1 Gene Mutations

Genetic Testing and Molecular Biomarkers, 2014
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations of the survival of motor neuron 1 (SMN1) gene. Approximately 90-95% of SMA patients have a homozygous deletion of SMN1, and 5-10% of patients are believed to have subtle mutations.
Jin-Li, Bai, Yu-Jin, Qu, Yan-Yan, Cao, Ee-Zhen, Li, Li-Wen, Wang, Yan, Li, Yan-Li, Zhu, Wen-Hui, Zhang, Yu-Wei, Jin, Hong, Wang, Fang, Song   +10 more
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CRISPR-CAS9/SMN1 Kompleksi Yüklü Eksozomlar Aracılıklı Smn1-/- Mezenkimal Kök Hücre Hattında in Vitro Gen Düzenlenmesi

2022
Monogenik bir nöromusküler hastalık olan spinal musküler atrofi (SMA) motor nöron hücrelerinin kaybı olarak ilerleyen otozomal resesif bir hastalıktır. SMN1 geninin delesyonu ile nöron hücre kaybı yaşanmaktadır. Etkin bir tedavisi günümüzde olmamakla beraber SMA hastalığı SMN2 ekspresyonunu artırarak ya da SMN1 benzeri proteinlerin üretilmesiyle ...
Yazır, Yusufhan, Duruksu, Gökhan
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