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001-es BibID:	BIBFORM113415
035-os BibID:	(cikkazonosító)e2101 (Scopus)85143204245 (WOS)000882998500001
Első szerző:	Mianesaz, Hamidreza
Cím:	Causative variants linked with limb girdle muscular dystrophy in an Iranian population : 6 novel variants / Mianesaz Hamidreza, Ghalamkari Safoura, Salehi Mansoor, Behnam Mahdiyeh, Hosseinzadeh Majid, Basiri Keivan, Ghasemi Majid, Sedghi Maryam, Ansari Behnaz
Dátum:	2023
ISSN:	2324-9269
Megjegyzések:	Background: Limb-girdle muscular dystrophy (LGMD) is a non-syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes next-generation sequencing (NGS) a necessary approach for the proper diagnosis of LGMD. Methods: In this article, 26 Iranian patients with LGMD criteria were diagnosed with disease variants in the genes encoding calpain3, dysferlin, sarcoglycans and Laminin alpha-2. Patients were referred to the hospital with variable distribution of muscle wasting and progressive weakness in the body. The symptoms along with biochemical and EMG tests were suggestive of LGMD; thus the genomic DNA of patients were investigated by whole-exome sequencing including flanking intronic regions. The target genes were explored for the disease-causing variants. Moreover, the consequence of the amino acid alterations on proteins' secondary structure and function was investigated for a better understanding of the pathogenicity of variants. Variants were sorted based on the genomic region, type and clinical significance. Results: In a comprehensive investigation of previous clinical records, 6 variations were determined as novel, including c.1354-2 A > T and c.3169_3172dupCGGC in DYSF, c.568 G > T in SGCD, c.7243 C > T, c.8662_8663 insT and c. 4397G > C in LAMA2. Some of the detected variants were located in functional domains and/or near to the post-translational modification sites, altering or removing highly conserved regions of amino acid sequence.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk calpain dysferlin laminin LGMD limb-girdle muscular dystrophy muscular disorders, sarcoglycans whole exome sequencing
Megjelenés:	Molecular Genetics & Genomic Medicine. - 11 : 2 (2023), p. 1-14. -
További szerzők:	Ghalamkari, Safoura Salehi, Mansoor Behnam, Mahdiyeh Hosseinzadeh, Majid Basiri, Keivan Ghasemi, Majid Sedghi, Maryam Ansari, Behnaz
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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