(Q37230693)

19 August 2017

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy (English)

1 reference

19 August 2017

28

Anna-Elina Lehesjoki

1 reference

19 August 2017

Shane McKee

16

0 references

Minna Pöyhönen

object named as

Minna Pöyhönen

10

0 references

Masaaki Komatsu

object named as

Masaaki Komatsu

29

0 references

Aarno Palotie

26

object named as

Aarno Palotie

1 reference

19 August 2017

1

Mikko Muona

1 reference

19 August 2017

Ryosuke Ishimura

2

1 reference

19 August 2017

Anni Laari

3

1 reference

19 August 2017

Yoshinobu Ichimura

4

1 reference

19 August 2017

Tarja Linnankivi

5

1 reference

19 August 2017

Riikka Keski-Filppula

6

1 reference

19 August 2017

Riitta Herva

7

1 reference

19 August 2017

Heikki Rantala

8

1 reference

19 August 2017

Anders Paetau

9

1 reference

19 August 2017

Miki Obata

11

1 reference

19 August 2017

Takefumi Uemura

12

1 reference

19 August 2017

Thomas Karhu

13

1 reference

19 August 2017

Norihisa Bizen

14

1 reference

19 August 2017

Hirohide Takebayashi

15

1 reference

19 August 2017

Michael J Parker

17

1 reference

19 August 2017

Nadia Akawi

18

1 reference

19 August 2017

Jeremy McRae

19

1 reference

19 August 2017

Matthew E Hurles

20

1 reference

19 August 2017

DDD Study

21

1 reference

19 August 2017

Outi Kuismin

22

1 reference

19 August 2017

Mitja I Kurki

23

1 reference

19 August 2017

Anna-Kaisa Anttonen

24

1 reference

19 August 2017

Keiji Tanaka

25

1 reference

19 August 2017

Satoshi Waguri

27

1 reference

19 August 2017

language of work or name

English

0 references

publication date

17 August 2016

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

99

1 reference

19 August 2017

3

1 reference

19 August 2017

683-694

1 reference

Analysis of protein-coding genetic variation in 60,706 humans

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Modification of ASC1 by UFM1 is crucial for ERα transactivation and breast cancer development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Characterization, crystallization and preliminary X-ray crystallographic analysis of the human Uba5 C-terminus-Ufc1 complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

DeNovoGear: de novo indel and point mutation discovery and phasing.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

The ubiquitin-fold modifier 1 (Ufm1) cascade of Caenorhabditis elegans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Transcriptional regulation of the Ufm1 conjugation system in response to disturbance of the endoplasmic reticulum homeostasis and inhibition of vesicle trafficking

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

An integrated map of genetic variation from 1,092 human genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

6 September 2017

Ubiquitin-like proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Comparison of solution-based exome capture methods for next generation sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Ubiquitin fold modifier 1 (UFM1) and its target UFBP1 protect pancreatic beta cells from ER stress-induced apoptosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

A novel type of E3 ligase for the Ufm1 conjugation system

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

The Sequence Alignment/Map format and SAMtools

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Ubiquitin-like protein activation by E1 enzymes: the apex for downstream signalling pathways

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

A novel protein-conjugating system for Ufm1, a ubiquitin-fold modifier

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

UFBP1, a Key Component of the Ufm1 Conjugation System, Is Essential for Ufmylation-Mediated Regulation of Erythroid Development.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Large-scale discovery of novel genetic causes of developmental disorders

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Forty-year trends in cardiovascular risk factors in Finland

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

Disruption of actin-binding domain-containing Dystonin protein causes dystonia musculorum in mice.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010641

10.1016/J.AJHG.2016.06.020

3 September 2018

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

1 reference