(Q42034492)

English

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.

scientific article published on 29 March 2012

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scholarly article

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27 January 2020

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts (English)

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27 January 2020

1 reference

based on heuristic

inferred from title

muscular dystrophy

1 reference

based on heuristic

inferred from title

3

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27 January 2020

author name string

Olga Camacho-Vanegas

1

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27 January 2020

Sandra Catalina Camacho

2

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27 January 2020

Irene Miranda-Lorenzo

4

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27 January 2020

Esteban Terzo

5

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27 January 2020

Maria Celeste Ramirez

6

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27 January 2020

Vern Schramm

7

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27 January 2020

Grace Cordovano

8

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27 January 2020

Giles Watts

9

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27 January 2020

Sarju Mehta

10

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27 January 2020

Virginia Kimonis

11

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27 January 2020

Benjamin Hoch

12

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27 January 2020

Keith D Philibert

13

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27 January 2020

Carsten A Raabe

14

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27 January 2020

David F Bishop

15

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27 January 2020

Marc J Glucksman

16

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27 January 2020

John A Martignetti

17

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27 January 2020

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publication date

29 March 2012

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27 January 2020

American Journal of Human Genetics

1 reference

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27 January 2020

90

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27 January 2020

4

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27 January 2020

614-627

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22464254%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

MFH of bone and osteosarcoma show similar survival and chemosensitivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Retrocopy contributions to the evolution 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=3322221

5 June 2018

Modern genomes with retro-look: retrotransposed elements, retroposition and the origin of new genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Methylthioadenosine phosphorylase deficiency in Japanese osteosarcoma patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Enzymatic transition state theory and transition state analogue design

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

A common allele on chromosome 9 associated with coronary heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

A common variant on chromosome 9p21 affects the risk of myocardial infarction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

The evolutionary dynamics of human endogenous retroviral families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Homozygous deletions of methylthioadenosine phosphorylase in human biliary tract cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Human endogenous retroviruses in the primate lineage and their influence on host genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Alu-SINE exonization: en route to protein-coding function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Mega2: data-handling for facilitating genetic linkage and association analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Loss of methylthioadenosine phosphorylase and elevated ornithine decarboxylase is common in pancreatic cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Genomewide screening for fusogenic human endogenous retrovirus envelopes identifies syncytin 2, a gene conserved on primate evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Abnormality of the long bones and progressive muscular dystrophy in a family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Methylthioadenosine phosphorylase, a gene frequently codeleted with p16(cdkN2a/ARF), acts as a tumor suppressor in a breast cancer cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Two genetic hits (more or less) to cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Initial sequencing and analysis 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=3322221

5 June 2018

An envelope glycoprotein of the human endogenous retrovirus HERV-W is expressed in the human placenta and fuses cells expressing the type D mammalian retrovirus receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Syncytin is a captive retroviral envelope protein involved in human placental morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Malignant fibrous histiocytoma: inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22-evidence for a common genetic defect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

The structure of human 5'-deoxy-5'-methylthioadenosine phosphorylase at 1.7 A resolution provides insights into substrate binding and catalysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Tandem repeats finder: a program to analyze DNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Human Cancer Syndromes: Clues to the Origin and Nature of Cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Genomic cloning of methylthioadenosine phosphorylase: a purine metabolic enzyme deficient in multiple different cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Identification of a new, abundant superfamily of mammalian LTR-transposons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

The metabolism of 1-phospho-5-methylthioribose

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Primary malignant fibrous histiocytoma of bone: report of six cases with ultrastructural study and analysis of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Methionine synthesis from 5'-S-Methylthioadenosine. Resolution of enzyme activities and identification of 1-phospho-5-S methylthioribulose.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Trends in the biochemical pharmacology of 5'-deoxy-5'-methylthioadenosine

1 reference

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5 June 2018

Selective killing of human malignant cell lines deficient in methylthioadenosine phosphorylase, a purine metabolic enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Hereditary bone dysplasia with sarcomatous degeneration. Study of a family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Hereditary bone dysplasia with malignant change. Report of three families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Homozygous deletion of the alpha- and beta 1-interferon genes in human leukemia and derived cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Purification and characterization of 5'-deoxy-5'-methylthioadenosine phosphorylase from human placenta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Physicochemical and immunological studies on mammalian 5'-deoxy-5'-methylthioadenosine phosphorylase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Prediction of human mRNA donor and acceptor sites from the DNA sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Molecular analysis of deletions of the short arm of chromosome 9 in human gliomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

Homozygous deletions within human chromosome band 9p21 in melanoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

5 June 2018

On "genomenclature": a comprehensive (and respectful) taxonomy for pseudogenes and other "junk DNA"

1 reference

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5 June 2018

Absence of IFNA and IFNB genes from human malignant glioma cell lines and lack of correlation with cellular sensitivity to interferons.

1 reference

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3 July 2018

Homozygous deletion of MTAP gene as a poor prognosticator in gastrointestinal stromal tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

17 August 2018

Direct and tumor microenvironment mediated influences of 5'-deoxy-5'-(methylthio)adenosine on tumor progression of malignant melanoma

1 reference

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17 August 2018

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

17 August 2018

Methylthioadenosine phosphorylase gene deletions are common in osteosarcoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

17 August 2018

Homozygous deletions of methylthioadenosine phosphorylase (MTAP) are more frequent than p16INK4A (CDKN2) homozygous deletions in primary non-small cell lung cancers (NSCLC).

1 reference

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17 August 2018

Deficiency of methylthioadenosine phosphorylase in human leukemic cells in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

17 August 2018

Involvement of polyamines in apoptosis of cardiac myoblasts in a model of simulated ischemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3322221

3 November 2018

Polyamines decrease Ca(2+) sensitivity of tension and increase rates of activation in skinned cardiac myocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22464254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/22464254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

5'-Methylthioadenosine phosphorylase-L. Substrate activity of 5'-deoxyadenosine with the enzyme from Sarcoma 180 cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/22464254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions of Interferon Genes in Acute Lymphoblastic Leukemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22464254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Induction of angiogenesis in chick yolk-sac membrane by polyamines and its inhibition by tissue inhibitors of metalloproteinases (TIMP and TIMP-2)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22464254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetics of non-small cell lung cancer: analysis of consistent non-random abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/22464254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/22464254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diaphyseal medullary stenosis (sclerosis) with bone malignancy (malignant fibrous histiocytoma): Hardcastle syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22464254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neoadjuvant chemotherapy in malignant fibrous histiocytoma of bone and in osteosarcoma located in the extremities: analogies and differences between the two tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/22464254

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2012.02.024

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22464254%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22464254%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22464254%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

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