Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. (Q29871431)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

case report

0 references

title

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

Dual serine/threonine and tyrosine protein kinase

1 April 2020

main subject

1 reference

negative regulation of apoptotic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Chao-Kai Hsu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Magdalene Michael

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Arti Nanda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Jakub Tolar

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Evan Reid

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Michael Simpson

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

John Mcgrath

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

8

Takuya Takeichi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

18

Hejab Al-Ajmi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

21

Masashi Akiyama

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

23

W H Irwin McLean

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

14

Rachel Straussberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

17

Yasmin Zouabi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

11

Thomas Hayday

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

author name string

John Y W Lee

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Lu Liu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

James R McMillan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Sergiu C Blumen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Saif Abu-Mouch

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Yael Barhum

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Hsin-Yu Huang

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Ting-Chien Lin

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Julia Y Y Lee

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Celine Pourreyron

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

Lina Basel-Vanagaite

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

language of work or name

English

0 references

publication date

1 February 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

1 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

volume

100

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

page(s)

364-370

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci

1 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Mutations in DSTYK and dominant urinary tract malformations

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Modern vitiligo genetics sheds new light on an ancient disease

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Classification of cell death: recommendations of the Nomenclature Committee on Cell Death 2009

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Dusty protein kinases: primary structure, gene evolution, tissue specific expression and unique features of the catalytic domain

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

RIP5 is a RIP-homologous inducer of cell death

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

An alternative, nonapoptotic form of programmed cell death

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

12 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

DSTYK kinase domain ablation impaired the mice capabilities of learning and memory in water maze test.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

The RIP kinases: crucial integrators of cellular stress

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

SOURCE: a unified genomic resource of functional annotations, ontologies, and gene expression data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

CNVD: text mining-based copy number variation in disease database

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Schwann cell precursors from nerve innervation are a cellular origin of melanocytes in skin.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5294675

Vitiligo-spasticity syndrome: new case

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28157540

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28157540

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2017.01.014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28157540%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

PubMed publication ID

28157540

1 reference