(Q34450346)

2 August 2017

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome (English)

1 reference

Pur alpha Like Protein CELE_F45E4.2

2 August 2017

1 reference

GOA release 2020-03-11

1 reference

29

Eric Boerwinkle

0 references

James R. Lupski

33

object named as

James R Lupski

1 reference

2 August 2017

34

Richard A Gibbs

1 reference

2 August 2017

28

Donna M Muzny

1 reference

2 August 2017

32

Christine M Eng

1 reference

2 August 2017

36

Yaping Yang

1 reference

2 August 2017

8

Klaas J Wierenga

1 reference

2 August 2017

1

Seema R Lalani

1 reference

2 August 2017

21

Wenmiao Zhu

1 reference

2 August 2017

19

Angus Wilfong

1 reference

2 August 2017

20

Gabriela Purcarin

1 reference

2 August 2017

31

Zhiyv Niu

1 reference

2 August 2017

Jing Zhang

2

1 reference

2 August 2017

Christian P Schaaf

3

1 reference

2 August 2017

Chester W Brown

4

1 reference

2 August 2017

Pilar Magoulas

5

1 reference

2 August 2017

Anne Chun-Hui Tsai

6

1 reference

2 August 2017

Areeg El-Gharbawy

7

1 reference

2 August 2017

Dennis Bartholomew

9

1 reference

2 August 2017

Chin-To Fong

10

1 reference

2 August 2017

Tina Barbaro-Dieber

11

1 reference

2 August 2017

Mary K Kukolich

12

1 reference

2 August 2017

Lindsay C Burrage

13

1 reference

2 August 2017

Elise Austin

14

1 reference

2 August 2017

Kory Keller

15

1 reference

2 August 2017

Matthew Pastore

16

1 reference

2 August 2017

Fabio Fernandez

17

1 reference

2 August 2017

Timothy Lotze

18

1 reference

2 August 2017

William J Craigen

22

1 reference

2 August 2017

Marianne McGuire

23

1 reference

2 August 2017

Mahim Jain

24

1 reference

2 August 2017

Erin Cooney

25

1 reference

2 August 2017

Mahshid Azamian

26

1 reference

2 August 2017

Matthew N Bainbridge

27

1 reference

2 August 2017

Richard E Person

30

1 reference

2 August 2017

Arthur L Beaudet

35

1 reference

2 August 2017

Meng C Wang

37

1 reference

2 August 2017

Fan Xia

38

1 reference

2 August 2017

language of work or name

English

0 references

publication date

16 October 2014

1 reference

American Journal of Human Genetics

2 August 2017

1 reference

2 August 2017

95

1 reference

2 August 2017

579-583

1 reference

2 August 2017

5

1 reference

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

Drosophila Pur-α binds to trinucleotide-repeat containing cellular RNAs and translocates to the early oocyte

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

Lack of Pur-alpha alters postnatal brain development and causes megalencephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

X-ray structure of Pur- reveals a Whirly-like fold and an unusual nucleic-acid binding surface

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

Multiple roles for Puralpha in cellular and viral regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

Role of Pur alpha in targeting mRNA to sites of translation in hippocampal neuronal dendrites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

The HeLa Pur factor binds single-stranded DNA at a specific element conserved in gene flanking regions and origins of DNA replication

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225583

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25439098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25439098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25439098

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.09.014

1 reference

2 August 2017

1 reference

2 August 2017

1 reference