(Q30374649)

English

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. (English)

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Ciliogenesis associated kinase 1

1 reference

GOA release 2020-03-11

Gregory B. Gloor

object named as

Gregory B Gloor

7

0 references

Matthew B Lanktree

object named as

Matthew B Lanktree

6

0 references

Robert A. Hegele

14

object named as

Robert A Hegele

0 references

author name string

Piya Lahiry

1

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Jian Wang

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

John F Robinson

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Jacob P Turowec

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

David W Litchfield

5

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Erik G Puffenberger

8

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Kevin A Strauss

9

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Mildred B Martens

10

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

David A Ramsay

11

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

C Anthony Rupar

12

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Victoria Siu

13

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

language of work or name

0 references

publication date

29 January 2009

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

84

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

134-147

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Protein kinase C beta inhibitors: a new therapeutic target for diabetic nephropathy and vascular complications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Macromolecular modeling with rosetta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Alternative splicing and differential gene expression in colon cancer detected by a whole genome exon array.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

SNPs3D: candidate gene and SNP selection for association studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

The reaper-binding protein scythe modulates apoptosis and proliferation during mammalian development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Activation of a nuclear Cdc2-related kinase within a mitogen-activated protein kinase-like TDY motif by autophosphorylation and cyclin-dependent protein kinase-activating kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

BRAF mutation in thyroid cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Skeletal dysplasias.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

A new growth chart for preterm babies: Babson and Benda's chart updated with recent data and a new format

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

MAP kinases and CDKs: kinetic basis for catalytic activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

The protein kinase complement of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

The identification and subcellular localization of human MRK

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Human hypertension caused by mutations in WNK kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Intestinal cell kinase (ICK) localizes to the crypt region and requires a dual phosphorylation site found in map kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Molecular cloning of a novel serine/threonine kinase, MRK, possibly involved in cardiac development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Protein tyrosine kinases in the initiation of antigen receptor signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Multiple modes of ligand recognition: crystal structures of cyclin-dependent protein kinase 2 in complex with ATP and two inhibitors, olomoucine and isopentenyladenine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Short rib-polydactyly syndrome, Majewski type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

20 June 2018

Eris: an automated estimator of protein stability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

26 November 2018

Oral-facial-skeletal syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668000

26 November 2018

Short rib-polydactyly syndrome and pericentric inversion of chromosome 4

1 reference

https://pubmed.ncbi.nlm.nih.gov/19185282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare disease genes--lessons and challenges

1 reference

https://pubmed.ncbi.nlm.nih.gov/19185282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Orofaciodigital syndrome Type IV (Mohr–Majewski): early prenatal diagnosis in siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/19185282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overlap between Majewski and hydrolethalus syndromes: a report of two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19185282

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2008.12.017

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q30374649&oldid=1550025614"