Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families-Reference-Cited by-同舟云学术

Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Published:2019-05-14 Issue:6 Volume:95 Page:718-725
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Beheshtian Maryam¹²³,Fattahi Zohreh¹²,Fadaee Mahsa²,Vazehan Raheleh²,Jamali Payman⁴,Parsimehr Elham²,Kamgar Mahboubeh⁵,Zonooz Mehrshid Faraji²,Mahdavi Shokouh Sadat⁶,Kalhor Zahra²,Arzhangi Sanaz¹,Abedini Seyedeh Sedigheh¹,Kermani Farahnaz Sabbagh⁷,Mojahedi Faezeh⁸,Kalscheuer Vera M.⁹,Ropers Hans‐Hilger.¹⁰^ORCID,Kariminejad Ariana²,Najmabadi Hossein¹²,Kahrizi Kimia¹^ORCID

Affiliation:

1. Genetics Research CenterUniversity of Social Welfare and Rehabilitation Sciences Tehran Iran

2. Kariminejad – Najmabadi Pathology & Genetics Center Tehran Islamic Republic of Iran

3. Student Research CommitteeUniversity of Social Welfare and Rehabilitation Sciences Tehran Iran

4. Shahrood Genetic Counseling Center Semnan Iran

5. Comprehensive Medical Genetics CenterShiraz University of Medical Sciences Shiraz Iran

6. Genetic Clinic of Tehran Welfare Organization Tehran Iran

7. Clinical Research Unit, Afzalipour Hospital, KermanUniversity of Medical Sciences Kerman Iran

8. Mashhad Medical Genetic Counseling Center Mashhad Iran

9. Research Group Development and Disease, Max Planck Institute for Molecular Genetics Berlin Germany

10. Department of Human Molecular GeneticsMax Planck Institute for Molecular Genetics Berlin Germany

Funder

Iran National Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13549

Reference11 articles.

1. Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

2. The RNA exosome and RNA exosome-linked disease

3. Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

4. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

5. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

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3. Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort;Archives of Iranian Medicine;2023-04-01

4. Caught in the act—Visualizing ribonucleases during eukaryotic ribosome assembly;WIREs RNA;2022-10-18

5. Integrated Bioinformatic Investigation of EXOSCs in Hepatocellular Carcinoma Followed by the Preliminary Validation of EXOSC5 in Cell Proliferation;International Journal of Molecular Sciences;2022-10-12