Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance (Q34117563)

31 July 2017

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance (English)

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31 July 2017

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31 July 2017

8

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16

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14

Inês Barroso

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Mark O'Driscoll

object named as

Mark O'Driscoll

15

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Stephen O'Rahilly

object named as

Stephen O'Rahilly

12

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author name string

Rita Colnaghi

2

1 reference

31 July 2017

Nuno Rocha

3

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31 July 2017

Asha Seth

4

1 reference

31 July 2017

Julie Harris

5

1 reference

31 July 2017

Gillian Carpenter

6

1 reference

31 July 2017

William E Bottomley

7

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31 July 2017

Stephen Wong

9

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31 July 2017

Vladimir Saudek

10

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31 July 2017

David Savage

11

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31 July 2017

Jean-Claude Carel

13

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31 July 2017

language of work or name

English

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publication date

8 August 2014

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Journal of Clinical Investigation

31 July 2017

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31 July 2017

124

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31 July 2017

9

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31 July 2017

4028-4038

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Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

5 July 2018

Congenital microcephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

SUMO ligase activity of vertebrate Mms21/Nse2 is required for efficient DNA repair but not for Smc5/6 complex stability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Mechanisms and pathways of growth failure in primordial dwarfism.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Variation in genome-wide mutation rates within and between human families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Genetic Syndromes of Severe Insulin Resistance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Small ubiquitin-related modifier ligase activity of Mms21 is required for maintenance of chromosome integrity during the unperturbed mitotic cell division cycle in Saccharomyces cerevisiae

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

A map of human genome variation from population-scale sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Dindel: accurate indel calls from short-read data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Condensin and cohesin complexity: the expanding repertoire of functions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Structural and Functional Insights into the Roles of the Mms21 Subunit of the Smc5/6 Complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Smc5-Smc6-dependent removal of cohesin from mitotic chromosomes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

SMC5 and MMS21 are required for chromosome cohesion and mitotic progression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Fast and accurate short read alignment with Burrows-Wheeler transform

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

The unnamed complex: what do we know about Smc5-Smc6?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Smc5/6 maintains stalled replication forks in a recombination-competent conformation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Positive and negative regulation of insulin signaling by reactive oxygen and nitrogen species

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Ubc9- and mms21-mediated sumoylation counteracts recombinogenic events at damaged replication forks

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Smc5/6 is required for repair at collapsed replication forks

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Genetic disorders of adipose tissue development, differentiation, and death

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Human MMS21/NSE2 is a SUMO ligase required for DNA repair

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

A SUMO ligase is part of a nuclear multiprotein complex that affects DNA repair and chromosomal organization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Nse2, a component of the Smc5-6 complex, is a SUMO ligase required for the response to DNA damage

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Composition and architecture of the Schizosaccharomyces pombe Rad18 (Smc5-6) complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Nse1, Nse2, and a novel subunit of the Smc5-Smc6 complex, Nse3, play a crucial role in meiosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

The International HapMap Project

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Increased spontaneous mitotic segregation in MMS-sensitive mutants of Saccharomyces cerevisiae

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Cytokinesis-block micronucleus cytome assay.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Novel essential DNA repair proteins Nse1 and Nse2 are subunits of the fission yeast Smc5-Smc6 complex.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151221

Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25105364

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25105364

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI73264

1 reference

31 July 2017

1 reference

31 July 2017

1 reference