H
Hassan Dastsooz
Researcher at University of Turin
Publications - 33
Citations - 279
Hassan Dastsooz is an academic researcher from University of Turin. The author has contributed to research in topics: Exome sequencing & Proband. The author has an hindex of 8, co-authored 30 publications receiving 164 citations. Previous affiliations of Hassan Dastsooz include Shiraz University of Medical Sciences.
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Journal ArticleDOI
A Comprehensive Bioinformatics Analysis of UBE2C in Cancers
TL;DR: It is shown that the ubiquitin conjugating enzyme, E2C (UBE2C), is overexpressed in all 27 cancers investigated and higher UBE2C higher-expression leads to worse disease-free survival prognosis (DFS), indicating that U BE2C overexpression correlates with poor clinical outcomes.
Journal ArticleDOI
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard,Adriana P. Rebelo,Elena Buglo,Hamid Nemati,Hassan Dastsooz,Ina Gehweiler,Ina Gehweiler,Selina Reich,Selina Reich,Jennifer Reichbauer,Jennifer Reichbauer,Beatriz Quintáns,Andrés Ordóñez-Ugalde,Andrea Cortese,Steve Courel,Lisa Abreu,Eric Powell,Matt C. Danzi,Nicole B. Martuscelli,Dana M. Bis-Brewer,Feifei Tao,Fariba Zarei,Parham Habibzadeh,Majid Yavarian,Farzaneh Modarresi,Mohammad Silawi,Zahra Tabatabaei,Masoume Yousefi,Hamid Reza Farpour,Christoph Kessler,Christoph Kessler,Elisabeth Mangold,Xenia Kobeleva,Ivailo Tournev,Ivailo Tournev,Teodora Chamova,Amelie J. Mueller,Tobias B. Haack,Mark A. Tarnopolsky,Ziv Gan-Or,Ziv Gan-Or,Guy A. Rouleau,Guy A. Rouleau,Matthis Synofzik,Matthis Synofzik,María-Jesús Sobrido,Albena Jordanova,Albena Jordanova,Rebecca Schüle,Rebecca Schüle,Stephan Züchner,Mohammad Ali Faghihi +51 more
TL;DR: It is shown that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins, and UBAP1 provides a bridge toward a more unified pathophysiology.
Journal ArticleDOI
Expanding the molecular and clinical phenotypes of FUT8-CDG
Bobby G. Ng,Hassan Dastsooz,Hassan Dastsooz,Mohammad Silawi,Parham Habibzadeh,Shima Bahram Jahan,Mohammad Ali Farazi Fard,Benjamin J. Halliday,Kimiyo Raymond,Maura R.Z. Ruzhnikov,Zahra Tabatabaei,Afsaneh Taghipour‐Sheshdeh,Elise Brimble,Stephen P. Robertson,Mohammad Ali Faghihi,Mohammad Ali Faghihi,Hudson H. Freeze +16 more
TL;DR: Analysis of serum N‐glycans revealed a complete lack of core fucosylation, an important diagnostic biomarker of FUT8‐CDG, which expands both the molecular and clinical phenotypes of F UT8‐ CDG and highlights the importance of identifying a reliable biomarker for confirming potentially pathogenic variants.
Journal ArticleDOI
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
TL;DR: This study uncovered two rare novel mutations in PANK2 and PLA2G6 genes in patients with NBIA disorder and such studies may help to conduct genetic counseling and prenatal diagnosis more accurately for individuals at the high risk of these types of disorders.
Journal ArticleDOI
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.
Parham Habibzadeh,Soroor Inaloo,Mohammad Silawi,Hassan Dastsooz,Hassan Dastsooz,Mohammad Ali Farazi Fard,Forough Sadeghipour,Zahra Faghihi,Mohaddeseh Rezaeian,Majid Yavarian,Johann Böhm,Mohammad Ali Faghihi,Mohammad Ali Faghihi +12 more
TL;DR: These findings expanded the clinical features of TTC19 mutation to potentially include gastrointestinal involvement, and identified a novel homozygous frameshift mutation in the TTC19 gene in the patient.