Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse (Q24672496)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11997338%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11997338%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

main subject

Smith-Magenis syndrome

1 reference

2

1 reference

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10 December 2019

Sung Wook Park

4

1 reference

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10 December 2019

5

Katherina Walz

1 reference

10 December 2019

12

James R Lupski

1 reference

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10 December 2019

author name string

Weimin Bi

1

1 reference

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10 December 2019

Pawe Stankiewicz

3

1 reference

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10 December 2019

Cornelius F Boerkoel

6

1 reference

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10 December 2019

Lorraine Potocki

7

1 reference

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10 December 2019

Lisa G Shaffer

8

1 reference

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10 December 2019

Magorzata J M Nowaczyk

10

1 reference

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10 December 2019

Ken Inoue

11

1 reference

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10 December 2019

Koen Devriendt

9

1 reference

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10 December 2019

language of work or name

English

0 references

publication date

1 May 2002

1 reference

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10 December 2019

1 reference

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10 December 2019

volume

12

1 reference

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10 December 2019

issue

5

1 reference

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10 December 2019

page(s)

713-728

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Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria

10 December 2019

cites work

1 reference

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Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere

7 April 2017

1 reference

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Initial sequencing and analysis of the human genome

7 April 2017

1 reference

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A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease

7 April 2017

1 reference

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Cloning, expression and characterization of a novel human Ras-related protein that is regulated by glucocorticoid hormone

7 April 2017

1 reference

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

7 April 2017

1 reference

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Mutations in the human Jagged1 gene are responsible for Alagille syndrome

7 April 2017

1 reference

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Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype

7 April 2017

1 reference

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The Sequence of the Human Genome

7 April 2017

1 reference

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Crystal structure of human BPI and two bound phospholipids at 2.4 angstrom resolution

7 April 2017

1 reference

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DRG represents a family of two closely related GTP-binding proteins.

7 April 2017

1 reference

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Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2

7 April 2017

1 reference

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Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7

7 April 2017

1 reference

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The GGAs promote ARF-dependent recruitment of clathrin to the TGN

7 April 2017

1 reference

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PDZ domains and the organization of supramolecular complexes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

The DNA sequence of human chromosome 21

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

The DNA sequence of human chromosome 22

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Dexamethasone rapidly induces a novel ras superfamily member-related gene in AtT-20 cells

7 April 2017

1 reference

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Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Interstitial deletion of (17)(p11.2p11.2) in nine patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

slit: an extracellular protein necessary for development of midline glia and commissural axon pathways contains both EGF and LRR domains

7 April 2017

1 reference

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The human ubiquitin/52-residue ribosomal protein fusion gene subfamily (UbA52) is composed primarily of processed pseudogenes

7 April 2017

1 reference

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Structure, expression profile and alternative processing of the human phosphatidylethanolamine N-methyltransferase (PEMT) gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

PipMaker--a web server for aligning two genomic DNA sequences

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Characterization of the murine phosphatidylethanolamine N-methyltransferase-2 gene

7 April 2017

1 reference

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Developmental expression of poly(A) binding protein mRNAs during spermatogenesis in the mouse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Genome architecture, rearrangements and genomic disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Transcription factor GATA3 and the human HDR syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes

28 September 2017

1 reference

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Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity

28 September 2017

1 reference

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An anchored framework BAC map of mouse chromosome 11 assembled using multiplex oligonucleotide hybridization

28 September 2017

1 reference

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VHS domain marks a group of proteins involved in endocytosis and vesicular trafficking

28 September 2017

1 reference

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Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

28 September 2017

1 reference

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Mammalian DNA topoisomerase IIIalpha is essential in early embryogenesis

28 September 2017

1 reference

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

28 September 2017

1 reference

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Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

28 September 2017

1 reference

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What makes an mRNA anti-sense-itive?

28 September 2017

1 reference

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Human and rodent DNA sequence comparisons: a mosaic model of genomic evolution

28 September 2017

1 reference

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Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brain

28 September 2017

1 reference

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Contiguous gene syndromes: a component of recognizable syndromes

28 September 2017

1 reference

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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

28 September 2017

1 reference

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The tumour-suppressor genes lgl and dlg regulate basal protein targeting in Drosophila neuroblasts

28 September 2017

1 reference

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Role of cortical tumour-suppressor proteins in asymmetric division of Drosophila neuroblast

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Retinoic acid-induced asymmetric craniofacial growth and cleft palate in the TO mouse fetus

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

30 May 2018

1 reference

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Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Lack of catalytic activity of a murine mRNA cytoplasmic serine hydroxymethyltransferase splice variant: evidence against alternative splicing as a regulatory mechanism

28 July 2018

1 reference

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Fliih, the murine homologue of the Drosophila melanogaster flightless I gene: nucleotide sequence, chromosomal mapping and overlap with Llglh

28 November 2018

1 reference

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A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).

28 November 2018

1 reference

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Molecular cloning, characterization and alternative splicing of the human cytoplasmic serine hydroxymethyltransferase gene

28 November 2018

1 reference

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Isolation of a cDNA encoding mouse DNA topoisomerase III which is highly expressed at the mRNA level in the testis

28 November 2018

1 reference

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Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

A mouse homologue of the Drosophila tumour-suppressor gene l(2)gl controlled by Hox-C8 in vivo

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=186594

Definition of the critical interval for Smith-Magenis syndrome

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11997338

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11997338

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11997338

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/GR.73702

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11997338%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11997338%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

PubMed publication ID

11997338

1 reference