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Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion

Nucleic acids research, 2017-05, Vol.45 (8), p.4619

2017

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BIOLOGY OF MAMMALIAN L1 RETROTRANSPOSONS

Annual review of genetics, 2001-01, Vol.35 (1), p.501-538

2001

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In vitro screening for compounds that enhance human L1 mobilization

PloS one, 2013-09, Vol.8 (9), p.e74629

2013

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Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion

Human molecular genetics, 2010-05, Vol.19 (9), p.1712-1725

2010

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A mouse model of human L1 retrotransposition

Nature genetics, 2002-12, Vol.32 (4), p.655-660

2002

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Reading LINEs within the cocaine addicted brain

Brain and behavior, 2017-05, Vol.7 (5), p.e00678-n/a

2017

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An estimated frequency of endogenous insertional mutations in humans

Nature genetics, 1999-06, Vol.22 (2), p.130-130

Kazazian, Haig H

1999

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A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Nature (London), 1990-07, Vol.346 (6282), p.366-369

1990

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Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

Nature genetics, 1998-11, Vol.20 (3), p.288-290

1998

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Identification of Sequence Variants and Analysis of the Role of the Catechol- O-Methyl-Transferase Gene in Schizophrenia Susceptibility

Biological psychiatry (1969), 1998-03, Vol.43 (6), p.425-431

1998

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Human L1 retrotransposition: cis preference versus trans complementation

Molecular and cellular biology, 2001-02, Vol.21 (4), p.1429-1439

2001

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Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

The New England journal of medicine, 1990-12, Vol.323 (24), p.1685-1689

1990

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Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Nature (London), 1987-11, Vol.330 (6146), p.384-386

1987

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Linkage of β -thalassaemia mutations and β -globin gene polymorphisms with DNA polymorphisms in human β -globin gene cluster

Nature (London), 1982-04, Vol.296 (5858), p.627-631

1982

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Abnormal RNA processing due to the exon mutation of β E -globin gene

Nature (London), 1982-12, Vol.300 (5894), p.768-769

1982

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Improved Detection of the Sickle Mutation by DNA Analysis: Application to Prenatal Diagnosis

The New England journal of medicine, 1982-07, Vol.307 (1), p.32-36

1982

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DNA polymorphism and molecular pathology of the human globin gene clusters

Human genetics, 1985, Vol.69 (1), p.1-14

1985

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Phylogeny of human β-globin haplotypes and its implications for recent human evolution

American journal of physical anthropology, 1990-01, Vol.81 (1), p.113-130

1990

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Quantification of the close association between DNA haplotypes and specific β -thalassaemia mutations in Mediterraneans

Nature (London), 1984-07, Vol.310 (5973), p.152-154

1984

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The thalassemia syndromes : molecular basis and prenatal diagnosis in 1990

Seminars in hematology, 1990-07, Vol.27 (3), p.209-228

KAZAZIAN, H. H

1990

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Molecular Basis and Prenatal Diagnosis of β-Thalassemia

Blood, 1988-10, Vol.72 (4), p.1107-1116

1988

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Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

Proceedings of the National Academy of Sciences - PNAS, 1991-01, Vol.88 (1), p.310-314

1991

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Frequency and stability of the fragile X premutation

Human molecular genetics, 1994-03, Vol.3 (3), p.393-398

1994

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The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci

British journal of haematology, 1994-02, Vol.86 (2), p.372-376

1994

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Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

Blood, 1992-06, Vol.79 (11), p.3014-3018

1992

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Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion

BIOLOGY OF MAMMALIAN L1 RETROTRANSPOSONS

In vitro screening for compounds that enhance human L1 mobilization

Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion

A mouse model of human L1 retrotransposition

Reading LINEs within the cocaine addicted brain

An estimated frequency of endogenous insertional mutations in humans

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

Identification of Sequence Variants and Analysis of the Role of the Catechol- O-Methyl-Transferase Gene in Schizophrenia Susceptibility

Human L1 retrotransposition: cis preference versus trans complementation

Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Linkage of β -thalassaemia mutations and β -globin gene polymorphisms with DNA polymorphisms in human β -globin gene cluster

Abnormal RNA processing due to the exon mutation of β E -globin gene

Improved Detection of the Sickle Mutation by DNA Analysis: Application to Prenatal Diagnosis

DNA polymorphism and molecular pathology of the human globin gene clusters

Phylogeny of human β-globin haplotypes and its implications for recent human evolution

Quantification of the close association between DNA haplotypes and specific β -thalassaemia mutations in Mediterraneans

The thalassemia syndromes : molecular basis and prenatal diagnosis in 1990

Molecular Basis and Prenatal Diagnosis of β-Thalassemia

Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

Frequency and stability of the fragile X premutation

The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci

Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

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