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001-es BibID:	BIBFORM123741
035-os BibID:	(scopus)85197698921 (wos)001263323400001
Első szerző:	Mianesaz, Hamidreza
Cím:	Genetic variant profiling of neonatal diabetes mellitus in Iranian patients : unveiling 58 distinct variants in 14 genes / Mianesaz Hamidreza, Ghalamkari Safoura, Abbasi Farzaneh, Razzaghy-Azar Maryam, Sayarifard Fatemeh, Vakili Rahim, Sedghi Maryam, Noroozi Asl Samaneh, Hosseini Sousan, Amoli Mahsa M., Yaghootkar Hanieh
Dátum:	2024
ISSN:	2040-1116 2040-1124
Megjegyzések:	Introduction: Neonatal diabetes mellitus (NDM) is a rare non-immunological monogenic disorder characterized by hyperglycemic conditions primarily occurring within the first 6 months of life. The majority of cases are attributed to pathogenic variants in genes affecting beta-cell survival, insulin regulation, and secretion. This study aims to investigate the genetic landscape of NDM in Iran. Methods: We recruited a total of 135 patients who were initially diagnosed with diabetes at <12 months of age in Iran and referred to pediatric endocrinology clinics across the country. These patients underwent genetic diagnostic tests conducted by the Exeter Molecular Genetics Laboratory in the UK. The pathogenic variants identified were sorted and described based on type, pathogenicity (according to ACMG/AMP criteria), novelty, and the affected protein domain. Results: Genetic defects were identified in 93 probands, presenting various pathogenic abnormalities associated with NDM and its associated syndromes. 76% of the patients were born as a result of consanguineous marriage, and a familial history of diabetes was found in 43% of the cases. A total of 58 distinct variants in 14 different genes were discovered, including 20 variants reported for the first time. Causative variants were most frequently identified in EIF2AK3, KCNJ11, and ABCC8, respectively. Notably, EIF2AK3 and ABCC8 exhibited the highest number of novel variants. Discussion: These findings provide valuable insights into the genetic landscape of NDM in the Iranian population and contribute to the knowledge of novel pathogenic variants within known causative genes.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk molecular diagnosis neonatal diabetes novel variants
Megjelenés:	Journal of Diabetes Investigation. - 15 : 10 (2024), p. 1390-1402. -
További szerzők:	Ghalamkari, Safoura Abbasi, Farzaneh Razzaghy-Azar, Maryam Sayarifard, Fatemeh Vakili, Rahim Sedghi, Maryam Noroozi Asl, Samaneh Hosseini, Sousan Amoli, Mahsa M. Yaghootkar, Hanieh
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM113415
035-os BibID:	(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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