(Q28506716)

English

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

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scholarly article

1 reference

PubMed publication ID

24 January 2017

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family (English)

1 reference

PubMed publication ID

24 January 2017

1 reference

based on heuristic

inferred from title

F-box protein 31

1 reference

GOA release 2020-03-11

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

author name string

Asif Mir

1

1 reference

PubMed publication ID

24 January 2017

Kumudesh Sritharan

2

1 reference

PubMed publication ID

24 January 2017

Kirti Mittal

3

1 reference

PubMed publication ID

24 January 2017

Nasim Vasli

4

1 reference

PubMed publication ID

24 January 2017

Carolina Araujo

5

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PubMed publication ID

24 January 2017

Talal Jamil

6

1 reference

PubMed publication ID

24 January 2017

Muhammad Arshad Rafiq

7

1 reference

PubMed publication ID

24 January 2017

Zubair Anwar

8

1 reference

PubMed publication ID

24 January 2017

Anna Mikhailov

9

1 reference

PubMed publication ID

24 January 2017

Sobiah Rauf

10

1 reference

PubMed publication ID

24 January 2017

Huda Mahmood

11

1 reference

PubMed publication ID

24 January 2017

Abdul Shakoor

12

1 reference

PubMed publication ID

24 January 2017

Sabir Ali

13

1 reference

PubMed publication ID

24 January 2017

Joyce So

14

1 reference

PubMed publication ID

24 January 2017

Farooq Naeem

15

1 reference

PubMed publication ID

24 January 2017

Muhammad Ayub

16

1 reference

PubMed publication ID

24 January 2017

John B. Vincent

17

1 reference

PubMed publication ID

24 January 2017

publication date

1 August 2014

1 reference

PubMed publication ID

24 January 2017

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PubMed publication ID

24 January 2017

133

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24 January 2017

8

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PubMed publication ID

24 January 2017

975–984

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PubMed publication ID

24 January 2017

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

SHRiMP2: sensitive yet practical SHort Read Mapping

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

RING domain E3 ubiquitin ligases

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Genetic basis of intellectual disability

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Genetic reevaluation of the role of F-box proteins in cyclin D1 degradation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

The genetic basis of non-syndromic intellectual disability: a review

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

FBXO31 is the chromosome 16q24.3 senescence gene, a candidate breast tumor suppressor, and a component of an SCF complex

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

The epidemiology of mental retardation: challenges and opportunities in the new millennium

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Prevalence of intellectual disability: a meta-analysis of population-based studies

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Genetics of recessive cognitive disorders

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Isolation and culture of hippocampal neurons from prenatal mice

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Measurement of protein using bicinchoninic acid

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Detection and integration of genotyping errors in statistical genetics

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

The centrosomal E3 ubiquitin ligase FBXO31-SCF regulates neuronal morphogenesis and migration

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Emerging roles for ubiquitin and protein degradation in neuronal function

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

1 reference

https://api.crossref.org/works/10.1007%2FS00439-014-1438-0

21 January 2018

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

https://pubmed.ncbi.nlm.nih.gov/24623383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FBXO31 is down-regulated and may function as a tumor suppressor in hepatocellular carcinoma.

1 reference

https://pubmed.ncbi.nlm.nih.gov/24623383

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-014-1438-0

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Dimensions Publication ID

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PubMed publication ID

1 reference

PubMed publication ID

24 January 2017

ResearchGate publication ID

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