(Q36475123)

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An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

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Europe PubMed Central

PMC publication ID

14 August 2017

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene (English)

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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David N. Cooper

8

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

author name string

David S Millar

1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Carolyn Tysoe

2

1 reference

Europe PubMed Central

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14 August 2017

Lazarus P Lazarou

3

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Daniela T Pilz

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Shehla Mohammed

5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Katharine Anderson

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Nadia Chuzhanova

7

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Europe PubMed Central

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14 August 2017

Rachel Butler

9

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Europe PubMed Central

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14 August 2017

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1 August 2010

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Europe PubMed Central

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14 August 2017

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Europe PubMed Central

PMC publication ID

14 August 2017

4

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Europe PubMed Central

PMC publication ID

14 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

384-393

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Molecular poltergeists: mitochondrial DNA copies (numts) in sequenced nuclear genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Role of 5'- and 3'-untranslated regions of mRNAs in human diseases

1 reference

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30 September 2017

Numt-mediated double-strand break repair mitigates deletions during primate genome evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

The Vienna RNA websuite

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

The implications of structured 5' untranslated regions on translation and disease

1 reference

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30 September 2017

Influence of RNA secondary structure on the pre-mRNA splicing process

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Continued colonization of the human genome by mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Rates of DNA Duplication and Mitochondrial DNA Insertion in the Human Genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Pushing the limits of the scanning mechanism for initiation of translation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Pattern of organization of human mitochondrial pseudogenes in the nuclear genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

How do mitochondrial genes get into the nucleus?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Nuclear pseudogenes of mitochondrial DNA as a variable part of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

30 September 2017

On the complexity measures of genetic sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

28 June 2018

Improved splice site detection in Genie

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

28 June 2018

LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

21 September 2018

The Human Gene Mutation Database: 2008 update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

21 September 2018

Transcriptional silencing of RFXAP in MHC class II-deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

21 September 2018

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

21 September 2018

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

21 September 2018

A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

21 September 2018

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525223

21 September 2018

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-4-6-384

21 January 2018

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-4-6-384

21 January 2018

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-4-6-384

21 January 2018

The Human Genome Project Reveals a Continuous Transfer of Large Mitochondrial Fragments to the Nucleus

1 reference

https://pubmed.ncbi.nlm.nih.gov/20846927

12 December 2020

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10.1186/1479-7364-4-6-384

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

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Europe PubMed Central

PMC publication ID

14 August 2017

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