Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia (Q24812307)

5 July 2017

title

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia (English)

1 reference

5 July 2017

1 reference

7

1 reference

5 July 2017

Gerald Stöber

1

1 reference

5 July 2017

Bernd Kohlmann

2

1 reference

5 July 2017

Markus Iekiera

3

1 reference

5 July 2017

Claudia Rubie

4

1 reference

5 July 2017

Micha Gawlik

5

1 reference

5 July 2017

Kerstin Möller-Ehrlich

6

1 reference

5 July 2017

Thomas Bettecken

8

1 reference

5 July 2017

language of work or name

English

0 references

publication date

14 October 2005

1 reference

5 July 2017

1 reference

5 July 2017

volume

5

1 reference

5 July 2017

issue

1

0 references

page(s)

36

1 reference

MLC1: a novel protein in distal astroglial processes

5 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Ceramide kinase, a novel lipid kinase. Molecular cloning and functional characterization

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Ceramide kinase is a mediator of calcium-dependent degranulation in mast cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Genes for schizophrenia? Recent findings and their pathophysiological implications

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Synaptic vesicle ceramide kinase. A calcium-stimulated lipid kinase that co-purifies with brain synaptic vesicles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

The allelic architecture of human disease genes: common disease-common variant... or not?

7 April 2017

1 reference

https://api.crossref.org/works/10.1186/1471-244X-5-36

A novel mitochondrial protein DIP mediates E2F1-induced apoptosis independently of p53.

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

HUGE: a database for human KIAA proteins, a 2004 update integrating HUGEppi and ROUGE.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Is the WKL1 gene associated with schizophrenia?

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-244X-5-36

No missense mutation of WKL1 in a subgroup of probands with schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-244X-5-36

Multicenter linkage study of schizophrenia loci on chromosome 22q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-244X-5-36

Towards the genetic basis of periodic catatonia: pedigree sample for genome scan I and II

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-244X-5-36

Genomic scan for genes predisposing to schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-244X-5-36

Activation of a plasma membrane-associated neutral sphingomyelinase and concomitant ceramide accumulation during IgG-dependent phagocytosis in human polymorphonuclear leukocytes.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274336

Association of WKL1/MLC1 with catatonic schizophrenia

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16225677

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Characterization of a ceramide kinase-like protein

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16225677

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

1 reference

https://api.crossref.org/works/10.1186%2F1471-244X-5-36

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1186/1471-244X-5-36

1 reference

Dimensions Publication ID

5 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-244x-5-36

9 September 2019

1 reference

5 July 2017

1 reference