Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease (Q36775218)

16 August 2017

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease (English)

1 reference

16 August 2017

Claudia Gonzaga-Jauregui

7

1 reference

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6 June 2020

Serkan Erdin

8

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6 June 2020

Tomasz Gambin

5

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6 June 2020

Ian M. Campbell

10

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6 June 2020

Ozlem Türkeli Sezer

27

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6 June 2020

Vehap Topcu

32

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6 June 2020

Vehap Topcu

33

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6 June 2020

Mustafa Ozen

59

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6 June 2020

65

James R Lupski

1 reference

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6 June 2020

64

Richard A Gibbs

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6 June 2020

60

Donna M Muzny

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6 June 2020

62

Eric Boerwinkle

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6 June 2020

44

Asuman Koparir

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6 June 2020

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13

Hilde Van Esch

1 reference

6 June 2020

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12

Mehmed M Atik

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25

Preti Jain

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22

Tulay Tos

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6

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56

Tahsin Yakut

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37

Elif Yilmaz Gulec

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Tamar Harel

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26

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47

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38

Alper Gezdirici

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Davut Pehlivan

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17

Gozde Yesil

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39

Erkan Koparir

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6 June 2020

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53

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18

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Ender Karaca

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Hakan Ulucan

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Shalini N Jhangiani

4

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6 June 2020

Jill V Hunter

11

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6 June 2020

Bo Yuan

14

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6 June 2020

Wojciech Wiszniewski

15

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6 June 2020

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16

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6 June 2020

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6 June 2020

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6 June 2020

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6 June 2020

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6 June 2020

Darryl C De Vivo

24

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6 June 2020

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28

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29

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6 June 2020

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6 June 2020

Sukru Candan

34

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6 June 2020

Alper Han Cebi

35

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6 June 2020

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36

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6 June 2020

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40

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6 June 2020

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43

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Mehmet Bugrahan Duz

45

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Emre Kirat

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Mehmet Seven

49

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Tulay Guran

50

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6 June 2020

Nursel Elcioglu

51

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6 June 2020

Mahmut Selman Yildirim

52

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6 June 2020

Mehmet Alikaşifoğlu

54

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6 June 2020

Mehmet Ture

55

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6 June 2020

John D Overton

57

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6 June 2020

Adnan Yuksel

58

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6 June 2020

David R Adams

61

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6 June 2020

Wendy K Chung

63

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6 June 2020

language of work or name

English

0 references

publication date

1 November 2015

1 reference

16 August 2017

1 reference

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6 June 2020

volume

88

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6 June 2020

page(s)

499-513

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6 June 2020

issue

3

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

6 June 2020

cites work

1 reference

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Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

29 September 2017

1 reference

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Molecular findings among patients referred for clinical whole-exome sequencing

29 September 2017

1 reference

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Structural basis for different phosphoinositide specificities of the PX domains of sorting nexins regulating G-protein signaling

29 September 2017

1 reference

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Malformations of cortical development: clinical features and genetic causes

29 September 2017

1 reference

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Genome sequencing identifies major causes of severe intellectual disability

29 September 2017

1 reference

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Introduction: Brain malformations

29 September 2017

1 reference

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Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression

29 September 2017

1 reference

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The Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder

29 September 2017

1 reference

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CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

29 September 2017

1 reference

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Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

29 September 2017

1 reference

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

29 September 2017

1 reference

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De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

29 September 2017

1 reference

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A mental retardation-linked nonsense mutation in cereblon is rescued by proteasome inhibition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

The human TUT1 nucleotidyl transferase as a global regulator of microRNA abundance

29 September 2017

1 reference

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Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome.

29 September 2017

1 reference

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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

29 September 2017

1 reference

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Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

29 September 2017

1 reference

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

29 September 2017

1 reference

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Brain dopamine-serotonin vesicular transport disease and its treatment

29 September 2017

1 reference

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Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

29 September 2017

1 reference

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A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo

29 September 2017

1 reference

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RNA helicases in infection and disease

29 September 2017

1 reference

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Copy number variation detection and genotyping from exome sequence data

29 September 2017

1 reference

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

A developmental and genetic classification for malformations of cortical development: update 2012

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

An integrative variant analysis suite for whole exome next-generation sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Clan genomics and the complex architecture of human disease

29 September 2017

1 reference

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Ubiquilin-1 is a molecular chaperone for the amyloid precursor protein

29 September 2017

1 reference

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Tumor suppressor RARRES1 interacts with cytoplasmic carboxypeptidase AGBL2 to regulate the α-tubulin tyrosination cycle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

The Sequence Alignment/Map format and SAMtools

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

29 September 2017

1 reference

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The long unwinding road of RNA helicases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

RNA helicases--one fold for many functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Identification, cloning, and functional analysis of the human U6 snRNA-specific terminal uridylyl transferase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Glycogen synthase kinase 3 and h-prune regulate cell migration by modulating focal adhesions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Family-based association between Alzheimer's disease and variants in UBQLN1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Circular binary segmentation for the analysis of array-based DNA copy number data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Identification of a polymorphic, neuron-specific chromatin remodeling complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Three-dimensional structure of the complexin/SNARE complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Evidence for interaction between human PRUNE and nm23-H1 NDPKinase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Unwinding RNA in Saccharomyces cerevisiae: DEAD-box proteins and related families.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

A novel family of predicted phosphoesterases includes Drosophila prune protein and bacterial RecJ exonuclease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Complexins: cytosolic proteins that regulate SNAP receptor function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Mutation in TTI2 reveals a role for triple T complex in human brain development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Defective escape behavior in DEAH-box RNA helicase mutants improved by restoring glycine receptor expression.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Altered expression of vesicular monoamine transporter 2 in epileptic patients and experimental rats.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Diagnostic exome sequencing in persons with severe intellectual disability

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Human metastasis regulator protein H-prune is a short-chain exopolyphosphatase

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Genetic factors in Alzheimer's disease.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Cell cycle regulation of central spindle assembly.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Prune cAMP phosphodiesterase binds nm23-H1 and promotes cancer metastasis.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

Active disruption of an RNA-protein interaction by a DExH/D RNA helicase

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4824012

The AKT genes and their roles in various disorders

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26539891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exclusive expression of VMAT2 in noradrenergic neurons increases viability of homozygous VMAT2 knockout mice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26539891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEURON.2015.09.048

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26539891%20AND%20SRC:MED&resulttype=core&format=json