Results 211 to 220 of about 9,755 (237)

[SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].

Genetika, 2015
Type I-IV proximal spinal muscular atrophy (SMA) is one of the most common autosomal-recessive diseas- es, which are characterized in the majority of cases by a severely disabling course. Proximal SMA results from mutations in the telomeric copy of SMN-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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Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA

Gene, 2022
SMA is a neuromuscular disease and occurs primarily through autosomal recessive inheritance. Identification of deletions in the SMN1 gene especially in the exon 7 and exon 8 regions (hot spot), are used in carrier testing. The exact copy numbers of those exons in the SMN1 and SMN2 genes in 113 patients who presented with a pre-diagnosis of SMA were ...
Yunus Arikan, Sibel Berker Karauzum, Hilmi Uysal, Ercan Mihci, Banu Nur, Ozgur Duman, Senay Haspolat, Ozden Altiok Clark, Asli Toylu   +8 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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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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C117T variant in the SMN1 gene found in the Japanese population

Pediatrics International, 2007
AbstractBackground: The SMN genes are closely related to the development of spinal muscular atrophy (SMA); mutated SMN1 causes SMA and functional SMN2 modifies the severity of SMA. SMN1 and SMN2 are almost identical, being distinguished by only five base pair substitutions located at the 3’‐end of the genes.
Ahmad Hamim, Sadewa, Yosuke, Harada, Teguh Haryo, Sasongko, Masafumi, Matsuo, Hisahide, Nishio   +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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Gene Editing in Smn1-/- Mesenchymal Stem Cell Line by Exosomes Loaded with CRISPR-Cas9/Smn1 Complex in vitro

2022
Spinal muscular atrophy (SMA), a genetically based neuromuscular disease, is an autosomal recessive diseaseprogressed by the loss of motor neuron cells. The incidence of SMA, which is classified as an inherited monogenicdisease, is higher than other rare diseases. SMA is mostly caused by mutations in the SMN1 gene.
UTKAN, TİJEN, DURUKSU, GÖKHAN, GACAR, GÜLÇİN, TEKE, KEREM, YAZIR, YUSUFHAN   +4 more
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G.P.96 The point mutations spectrum of survival motor neuron gene 1 (SMN1) in Polish SMA patients lacking a homozygous SMN1 deletion

Neuromuscular Disorders, 2012
Abstract About 96% of SMA patients display biallelic loss (deletion or conversion) of the SMN1 gene, while remaining patients combine the deletion on one allele with an intragenic mutation on the other. The aim of the study described here was thus to identify point mutations in a group of 606 patients diagnosed for SMA with excluded biallelic loss ...
M. Jedrzejowska, M. Gos, J. Zimowski, A. Kostera-Pruszczyk, B. Ryniewicz, I. Hausmanowa-Petrusewicz   +5 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 ...
Duruksu, Gökhan, Yazır, Yusufhan
openaire   +1 more source

Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2

Brain and Development, 2018
The SMN genes, SMN1 and SMN2, are highly homologous genes which are related to the development or clinical severity of spinal muscular atrophy. Some alternative splicing patterns of the SMN genes have been well documented. In 2007, an SMN1 transcript with a full sequence of intron 3 was reported as the first intron-retained SMN transcript.Intron ...
Nur Imma Fatimah, Harahap, Emma Tabe Eko, Niba, Mawaddah, Ar Rochmah, Yogik Onky Silvana, Wijaya, Toshio, Saito, Kayoko, Saito, Hiroyuki, Awano, Ichiro, Morioka, Kazumoto, Iijima, Poh San, Lai, Masafumi, Matsuo, Hisahide, Nishio, Masakazu, Shinohara   +12 more
openaire   +2 more sources