(Q50351896)

6 March 2018

title

Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay. (English)

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author

Christopher J. Schofield

13

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Mary-Ellen Harper

14

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Jason Vanstone

object named as

Jason Vanstone

6

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author name string

Hussein Daoud

1

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6 March 2018

Dong Zhang

2

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Fiona McMurray

3

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Andrea Yu

4

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Stephanie M Luco

5

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Olga Jarinova

7

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Nancy Carson

8

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James Wickens

9

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Shifali Shishodia

10

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Hwanho Choi

11

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Michael A McDonough

12

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David A Dyment

15

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Christine M Armour

16

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language of work or name

English

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publication date

16 September 2015

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6 March 2018

Journal of Medical Genetics

published in

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volume

53

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issue

3

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page(s)

200-207

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6 March 2018

describes a project that uses

massive parallel sequencing

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based on heuristic

inferred from title

cites work

The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Oxidative demethylation by Escherichia coli AlkB directly reverts DNA base damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Demethylation of 3-methylthymine in DNA by bacterial and human DNA dioxygenases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

AlkB-mediated oxidative demethylation reverses DNA damage in Escherichia coli

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Human and bacterial oxidative demethylases repair alkylation damage in both RNA and DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

N6-methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Variation in FTO contributes to childhood obesity and severe adult obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

The genetics of obesity: FTO leads the way.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Piecing together the FTO jigsaw

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Inactivation of the Fto gene protects from obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Adult onset global loss of the fto gene alters body composition and metabolism in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Overexpression of Fto leads to increased food intake and results in obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Prevalence of loss-of-function FTO mutations in lean and obese individuals

21 January 2018

1 reference

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The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Monitoring the activity of 2-oxoglutarate dependent histone demethylases by NMR spectroscopy: direct observation of formaldehyde

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Integrated Modeling Program, Applied Chemical Theory (IMPACT)

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Very fast empirical prediction and rationalization of protein pKa values

21 January 2018

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MM/GBSA binding energy prediction on the PDBbind data set: successes, failures, and directions for further improvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Crystal structure of the FTO protein reveals basis for its substrate specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Oxidative demethylation of 3-methylthymine and 3-methyluracil in single-stranded DNA and RNA by mouse and human FTO

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

ALKBH5 is a mammalian RNA demethylase that impacts RNA metabolism and mouse fertility

21 January 2018

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Topology of the human and mouse m6A RNA methylomes revealed by m6A-seq

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Comprehensive analysis of mRNA methylation reveals enrichment in 3' UTRs and near stop codons

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Role for the obesity-related FTO gene in the cellular sensing of amino acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Structural basis for inhibition of the fat mass and obesity associated protein (FTO)

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

Structural studies on 2-oxoglutarate oxygenases and related double-stranded beta-helix fold proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103399

10.1136/JMEDGENET-2015-103399

21 January 2018

Identifiers

DOI

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6 March 2018

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6 March 2018