(Q35877863)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

title

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

tricho-hepato-enteric syndrome

26 January 2020

main subject

diarrhea

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Ersin Sayar

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Jean-Pierre Hugot

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Nicolas Levy

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

0 references

Bernard Charroux

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Christine Martinez-Vinson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Bertrand Roquelaure

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Egritas Odul

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Hilary Smith

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Virginie Colomb

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Nicolas Andre

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Olivier Goulet

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Caroline Lacoste

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Jacques Sarles

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Julien Royet

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Catherine Badens

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

language of work or name

English

0 references

publication date

22 March 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

26 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

page(s)

689-692

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

The human exosome and disease.

26 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Functions of the cytoplasmic exosome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

The many pathways of RNA degradation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

The exosome: a multipurpose RNA-decay machine

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Human cell growth requires a functional cytoplasmic exosome, which is involved in various mRNA decay pathways

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

The highways and byways of mRNA decay

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Domain interactions within the Ski2/3/8 complex and between the Ski complex and Ski7p

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

The human PAF complex coordinates transcription with events downstream of RNA synthesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

The enzymes and control of eukaryotic mRNA turnover

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

The yeast antiviral proteins Ski2p, Ski3p, and Ski8p exist as a complex in vivo

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Identification and characterization of a human cDNA homologous to yeast SKI2.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Human helicase gene SKI2W in the HLA class III region exhibits striking structural similarities to the yeast antiviral gene SKI2 and to the human gene KIAA0052: emergence of a new gene family

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

"Superkiller" mutations suppress chromosomal mutations affecting double-stranded RNA killer plasmid replication in saccharomyces cerevisiae

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Tricho-hepato-enteric syndrome presenting with mild colitis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322239

10.1016/J.AJHG.2012.02.009

24 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

PubMed publication ID

22444670

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22444670%20AND%20SRC:MED&resulttype=core&format=json