4.4 Article

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar

S. Fahiminiya et al.

CLINICAL GENETICS (2014)

Article Cell Biology

Role of RNA methyltransferases in tissue renewal and pathology

Sandra Blanco et al.

CURRENT OPINION IN CELL BIOLOGY (2014)

Article Zoology

The Dynamic Nature of DNA Methylation: A Role in Response to Social and Seasonal Variation

Sebastian Alvarado et al.

INTEGRATIVE AND COMPARATIVE BIOLOGY (2014)

Review Biotechnology & Applied Microbiology

Nonsense-mediated decay in genetic disease: Friend or foe?

Jake N. Miller et al.

MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (2014)

Article Biochemistry & Molecular Biology

The Mouse Cytosine-5 RNA Methyltransferase NSun2 Is a Component of the Chromatoid Body and Required for Testis Differentiation

Shobbir Hussain et al.

MOLECULAR AND CELLULAR BIOLOGY (2013)

Article Genetics & Heredity

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

Muzammil Ahmad Khan et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

Mutations in NSUN2 Cause Autosomal-Recessive Intellectual Disability

Lia Abbasi-Moheb et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

Fernando Jose Martinez et al.

JOURNAL OF MEDICAL GENETICS (2012)

Article Biochemistry & Molecular Biology

RNA cytosine methylation by Dnmt2 and NSun2 promotes tRNA stability and protein synthesis

Francesca Tuorto et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2012)

Article Medicine, General & Internal

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Pediatrics

Intellectual Disability (Mental Retardation)

Sarah E. Shea

PEDIATRICS IN REVIEW (2012)

Article Multidisciplinary Sciences

The tRNA methyltransferase NSun2 stabilizes p16INK4 mRNA by methylating the 3′-untranslated region of p16

Xiaotian Zhang et al.

NATURE COMMUNICATIONS (2012)

Article Endocrinology & Metabolism

Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome

Andre F. Reis et al.

PEDIATRIC DIABETES (2011)

Review Andrology

Role of RNA-binding proteins in mammalian spermatogenesis

Maria Paola Paronetto et al.

INTERNATIONAL JOURNAL OF ANDROLOGY (2010)

Article Cell Biology

The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability

Shobbir Hussain et al.

JOURNAL OF CELL BIOLOGY (2009)

Article Biochemical Research Methods

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Review Cell Biology

Genetics of intellectual disability

H. Hilger Ropers

CURRENT OPINION IN GENETICS & DEVELOPMENT (2008)

Review Genetics & Heredity

Genetics of autosomal recessive non-syndromic mental retardation: recent advances

L. Basel-Vanagaite

CLINICAL GENETICS (2007)

Article Biochemistry & Molecular Biology

The RNA methyltransferase Misu (NSun2) mediates Myc-induced proliferation and is upregulated in tumors

Michaela Frye et al.

CURRENT BIOLOGY (2006)