SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system (Q24304950)

GOA release 2020-03-11

cognition

1 reference

disability affecting intellectual abilities

GOA release 2020-03-11

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

non-syndromic intellectual disability

1 reference

22

Lina Basel-Vanagaite

0 references

Metsada Pasmanik-Chor

4

Metsada Pasmanik-Chor

0 references

David J. Tischfield

David J Tischfield

13

0 references

M. Chiara Manzini

Chiara M Manzini

3

0 references

Laurence Colleaux

Laurence Colleaux

10

0 references

Christopher A. Walsh

6

Christopher A Walsh

0 references

Gidi Rechavi

18

Gideon Rechavi

0 references

Amos J Simon

9

Amos J Simon

0 references

Mordechai Shohat

21

Mordechai Shohat

0 references

Nurit Magal

15

Nurit Magal

0 references

Idit Maya

16

Idit Maya

0 references

Adi Har-Zahav

2

Adi Har-Zahav

0 references

Efrat Birk

1

Efrat Birk

0 references

author name string

Liora Kornreich

5

0 references

Konrad Noben-Trauth

7

0 references

Adi Albin

8

0 references

Yair Morad

11

0 references

Limor Rainshtein

12

0 references

Peter Wang

14

0 references

Noa Shoshani

17

0 references

Doron Gothelf

19

0 references

Gal Maydan

American Journal of Human Genetics

20

0 references

language of work or name

English

0 references

publication date

12 November 2010

0 references

published in

0 references

volume

87

0 references

issue

5

0 references

page(s)

694-700

0 references

cites work

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Syndapin I, a synaptic dynamin-binding protein that associates with the neural Wiskott-Aldrich syndrome protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Molecular specification and patterning of progenitor cells in the lateral and medial ganglionic eminences

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Jxc1/Sobp, encoding a nuclear zinc finger protein, is critical for cochlear growth, cell fate, and patterning of the organ of corti

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Functional partnership between amphiphysin and dynamin in clathrin-mediated endocytosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Dynamin 1 antisense oligonucleotide treatment prevents neurite formation in cultured hippocampal neurons

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Transcriptome of embryonic and neonatal mouse cortex by high-throughput RNA sequencing.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Genetics of autosomal recessive non-syndromic mental retardation: recent advances.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Fly SIX-type homeodomain proteins Sine oculis and Optix partner with different cofactors during eye development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

X-linked mental retardation: further lumping, splitting and emerging phenotypes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Developmental expression of parvalbumin mRNA in the cerebral cortex and hippocampus of the rat.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Expression of the mRNAs encoding the limbic system-associated membrane protein (LAMP): II. Fetal rat brain

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Recruitment of early postnatal parvalbumin-positive hippocampal interneurons by GABAergic excitation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

Exact genetic linkage computations for general pedigrees

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978971

10.1016/J.AJHG.2010.10.005

29 November 2018

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

21035105

1 reference