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An Apolipoprotein Influencing Triglycerides in Humans and Mice Revealed by Comparative Sequencing

Science (American Association for the Advancement of Science), 2001-10, Vol.294 (5540), p.169-173

2001

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Guidelines for investigating causality of sequence variants in human disease

Nature (London), 2014-04, Vol.508 (7497), p.469-476

2014

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Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice

Arteriosclerosis, thrombosis, and vascular biology, 2003-04, Vol.23 (4), p.529

2003

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Candidate genes for congenital diaphragmatic hernia from animal models : sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

European journal of human genetics : EJHG, 2007-09, Vol.15 (9), p.950-958

2007

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Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

Nature genetics, 1998-11, Vol.20 (3), p.251-258

1998

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Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

Human molecular genetics, 2009-03, Vol.18 (6), p.1140-1147

2009

Volltextzugriff (PDF)

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

Clinical genetics, 2009-05, Vol.75 (5), p.429-439

2009

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Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels

Human molecular genetics, 2002-11, Vol.11 (24), p.3031-3038

2002

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Apolipoprotein A-V deficiency results in marked hypertriglyceridemia attributable to decreased lipolysis of triglyceride-rich lipoproteins and removal of their remnants

Arteriosclerosis, thrombosis, and vascular biology, 2005-12, Vol.25 (12), p.2573

2005

Volltextzugriff (PDF)

VISTA Enhancer Browser--a database of tissue-specific human enhancers

Nucleic acids research, 2007-01, Vol.35 (Database issue), p.D88

2007

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Metagenomic Discovery of Biomass-Degrading Genes and Genomes from Cow Rumen

Science (American Association for the Advancement of Science), 2011-01, Vol.331 (6016), p.463-467

2011

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Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

Science (American Association for the Advancement of Science), 1996-03, Vol.271 (5256), p.1731-1734

1996

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Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers

Genome research, 2010-05, Vol.20 (5), p.565

2010

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A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Human molecular genetics, 2015-06, Vol.24 (11), p.3143-3154

2015

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Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes

Human molecular genetics, 2001-09, Vol.10 (18), p.1867-1871

2001

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Human-mouse comparative genomics: successes and failures to reveal functional regions of the human genome

Cold Spring Harbor Symposia on Quantitative Biology, 2003, Vol.68, p.303

2003

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Human-Specific Gain of Function in a Developmental Enhancer

Science (American Association for the Advancement of Science), 2008-09, Vol.321 (5894), p.1346-1350

2008

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Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Nature genetics, 1997-04, Vol.15 (4), p.393-396

1997

Volltextzugriff (PDF)

Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia

Arteriosclerosis, thrombosis, and vascular biology, 2004-01, Vol.24 (1), p.167

2004

Volltextzugriff (PDF)

Brg1 coordinates multiple processes during retinogenesis and is a tumor suppressor in retinoblastoma

Development (Cambridge), 2015-12, Vol.142 (23), p.4092-4106

2015

Volltextzugriff (PDF)

Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers

Proceedings of the National Academy of Sciences - PNAS, 2008-10, Vol.105 (42), p.16224-16229

2008

Volltextzugriff (PDF)

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

Human molecular genetics, 2014-05, Vol.23 (10), p.2711-2720

2014

Volltextzugriff (PDF)

Apolipoprotein AIV Gene Variant S347 Is Associated With Increased Risk of Coronary Heart Disease and Lower Plasma Apolipoprotein AIV Levels

Circulation research, 2003-05, Vol.92 (9), p.969-975

2003

Volltextzugriff (PDF)

Directed Evolution of Ionizing Radiation Resistance in Escherichia coli

Journal of Bacteriology, 2009-08, Vol.191 (16), p.5240-5252

2009

Volltextzugriff (PDF)

Combinatorial Regulation of Endothelial Gene Expression by Ets and Forkhead Transcription Factors

Cell, 2008-12, Vol.135 (6), p.1053-1064

2008

Volltextzugriff (PDF)

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An Apolipoprotein Influencing Triglycerides in Humans and Mice Revealed by Comparative Sequencing

Guidelines for investigating causality of sequence variants in human disease

Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice

Candidate genes for congenital diaphragmatic hernia from animal models : sequencing of FOG2 and PDGFRα reveals rare variants in diaphragmatic hernia patients

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case–control study

Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels

Apolipoprotein A-V deficiency results in marked hypertriglyceridemia attributable to decreased lipolysis of triglyceride-rich lipoproteins and removal of their remnants

VISTA Enhancer Browser--a database of tissue-specific human enhancers

Metagenomic Discovery of Biomass-Degrading Genes and Genomes from Cow Rumen

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes

Human-mouse comparative genomics: successes and failures to reveal functional regions of the human genome

Human-Specific Gain of Function in a Developmental Enhancer

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia

Brg1 coordinates multiple processes during retinogenesis and is a tumor suppressor in retinoblastoma

Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects

Apolipoprotein AIV Gene Variant S347 Is Associated With Increased Risk of Coronary Heart Disease and Lower Plasma Apolipoprotein AIV Levels

Directed Evolution of Ionizing Radiation Resistance in Escherichia coli

Combinatorial Regulation of Endothelial Gene Expression by Ets and Forkhead Transcription Factors

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