Human genome research in China

Significant progress in human genome research has been made in China since 1994. This review aims to give a brief and incomplete introduction to the major research institutions and their achievements in human genome sequencing and functional genomics in medicine, with emphasis on the “1% Sequencing Project”, the generation of single nucleotide polymorphism and haplotype maps of the human genome, disease gene identification, and the molecular characterization of leukemia and other diseases. Chinese efforts towards the sequencing of pathogenic microbial genomes and of the rice (Oryza sativa ssp. Indica) genome are also described.

• Publication year

  2004

• Venue

  Journal of molecular medicine

• Publication date

  2004-02-27

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00109-003-0515-yPMID 15168679PMCID 7079922
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The minimum LOH region defined on chromosome 17p13.3 in human hepatocellular carcinoma with gene content analysis.

  2003cited by this paper
• Association between genetic variation of CACNA1H and childhood absence epilepsy

  2003cited by this paper
• Fanconi anaemia

  2003cited by this paper
• Linkage analysis of 2q14-q23 and 5q32 with blood pressure quantitative traits in Chinese sib pairs

  2003cited by this paper
• Variation near the region of the lipoprotein lipase gene and hypertension or blood pressure levels in Chinese.

  2003cited by this paper
• Major form of NUP98/HOXC11 fusion in adult AML with t(11;12)(p15;q13) translocation exhibits aberrant trans-regulatory activity

  2003cited by this paper
• KCNQ1 gain-of-function mutation in familial atrial fibrillation.

  2003cited by this paper
• An alternative to FISH: detecting deletion and duplication carriers within 24 hours

  2003cited by this paper
• A complete sequence and comparative analysis of a SARS-associated virus (Isolate BJ01)

  2003cited by this paper
• Evidence for linkage and association of the markers near the LPL gene with hypertension in Chinese families

  2003cited by this paper
• Unique physiological and pathogenic features of Leptospira interrogans revealed by whole-genome sequencing

  2003cited by this paper
• Single nucleotide polymorphisms in CAPN10 gene of Chinese people and its correlation with type 2 diabetes mellitus in Han people of northern China.

  2002cited by this paper
• A Draft Sequence of the Rice Genome (Oryza sativa L. ssp. indica)

  2002cited by this paper
• A Draft Sequence of the Rice Genome (Oryza sativa L. ssp. japonica)

  2002cited by this paper
• Linkage analysis of twelve candidate gene loci regulating water and sodium metabolism and membrane ion transport in essential hypertension.

  2002cited by this paper
• Sequence and analysis of rice chromosome 4

  2002cited by this paper
• Down—regulation of gut—enriched Kruppel—like factor expression in esophageal cancer

  2002cited by this paper
• A complete sequence of the T. tengcongensis genome.

  2002cited by this paper
• Linkage analysis of a region on chromosome 2 with essential hypertension in Chinese families.

  2002cited by this paper
• Three isoforms of annexin I are preferentially expressed in normal esophageal epithelia but down-regulated in esophageal squamous cell carcinomas

  2002cited by this paper
• VEGF165 antisense RNA suppresses oncogenic properties of human esophageal squamous cell carcinoma.

  2002cited by this paper
• A draft sequence of the rice genome (Oryza sativa L. ssp. japonica).

  2002cited by this paper
• Genome sequence of Shigella flexneri 2a: insights into pathogenicity through comparison with genomes of Escherichia coli K12 and O157.

  2002cited by this paper
• The ATF/CREB site is the key element for transcription of the human RNA methyltransferase like 1 (RNMTL1) gene, a newly discovered 17p13.3 gene

  2002cited by this paper
• RhCG is downregulated in oesophageal squamous cell carcinomas, but expressed in multiple squamous epithelia.

  2002cited by this paper
• Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4

  2002cited by this paper
• Acute Promyelocytic Leukemia

  2002cited by this paper
• A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1–26.1

  2002influential reference
• Down-regulation of gut-enriched Kruppel-like factor expression in esophageal cancer.

  2002cited by this paper
• [The association of two single nucleotide polymorphisms in PRKCZ and UTS2 respectively with type 2 diabetes in Han people of northern China].

  2002cited by this paper
• Variant-type PML-RARα fusion transcript in acute promyelocytic leukemia: Use of a cryptic coding sequence from intron 2 of the RARα gene and identification of a new clinical subtype resistant to retinoic acid therapy

  2002cited by this paper
• A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma

  2002cited by this paper
• Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

  2002cited by this paper
• MECP2 gene mutation analysis in Chinese patients with Rett syndrome

  2002cited by this paper
• Cytogenetic studies of esophageal squamous cell carcinomas in the northern Chinese population by comparative genomic hybridization.

  2002cited by this paper
• Redifferentiation of human gastric cancer cells induced by ascorbic acid and sodium selenite.

  2002cited by this paper
• Elevated expression of p63 protein in human esophageal squamous cell carcinomas

  2002cited by this paper
• Allelic loss on 13q in esophageal squamous cell carcinomas from northern China.

  2002cited by this paper
• Cancer genomics: promises and complexities.

  2001cited by this paper
• Initial sequencing and analysis of the human genome

  2001cited by this paper
• Genetic approach to insight into the immunobiology of human dendritic cells and identification of CD84-H1, a novel CD84 homologue.

  2001cited by this paper
• Effects of Heat Treatments on Mechanical Strength of laser-welded Equi-atomic AuCu-6at%Ga Alloy

  2001cited by this paper
• Allelic loss and gain, but not genomic instability, as the major somatic mutation in primary hepatocellular carcinoma

  2001cited by this paper
• DSPP mutation in dentinogenesis imperfecta Shields type II

  2001cited by this paper
• Confirmation of susceptibility gene loci on chromosome 1 in northern China Han families with type 2 diabetes.

  2001cited by this paper
• A novel growth suppressor gene on chromosome 17p13.3 with a high frequency of mutation in human hepatocellular carcinoma.

  2001cited by this paper
• Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs.

  2001cited by this paper
• Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver

  2001cited by this paper
• Cloning and characterization of full-length human ribosomal protein L15 cDNA which was overexpressed in esophageal cancer.

  2001cited by this paper
• Linkage of hypertension to chromosome 2q14-q23 in Chinese families

  2001cited by this paper
• Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP

  2001cited by this paper
• The Novel Gene Locus for Agenesis of Permanent Teeth (He-Zhao deficiency) Maps to Chromosome 10q11.2

  2001cited by this paper
• Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

  2001cited by this paper
• Gene expression in CD34(+) cells from normal bone marrow and leukemic origins.

  2000cited by this paper
• Linkage analysis with candidate genes: the Taiwan young-onset hypertension genetic study

  2000cited by this paper
• Novel human esophagus-specific gene c1orf10: cDNA cloning, gene structure, and frequent loss of expression in esophageal cancer.

  2000cited by this paper
• Congenital absence of permanent teeth in a six-generation Chinese kindred.

  2000cited by this paper
• Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

  2000cited by this paper
• A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.

  2000cited by this paper
• Decreased expression of SPRR3 in Chinese human oesophageal cancer.

  2000cited by this paper
• Transglutaminase‐3, an esophageal cancer–related gene

  2000cited by this paper
• Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

  2000cited by this paper
• Genomic sequence, structural organization, molecular evolution, and aberrant rearrangement of promyelocytic leukemia zinc finger gene.

  1999cited by this paper
• An extreme-sib-pair genome scan for genes regulating blood pressure.

  1999cited by this paper
• Distinct leukemia phenotypes in transgenic mice and different corepressor interactions generated by promyelocytic leukemia variant fusion genes PLZF-RARalpha and NPM-RARalpha.

  1999cited by this paper
• Molecular Cloning of Six Novel Krüppel-like Zinc Finger Genes from Hematopoietic Cells and Identification of a Novel Transregulatory Domain KRNB*

  1999cited by this paper
• Linkage analysis of candidate genes and gene-gene interactions in chinese hypertensive sib pairs.

  1999cited by this paper
• Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

  1999cited by this paper
• Chromosomal aberrations during progression of chronic myeloid leukemia identified by cytogenetic and molecular cytogenetic tools: implication of 1q12-21.

  1999cited by this paper
• Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.

  1998cited by this paper
• Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment

  1998cited by this paper
• Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning.

  1998cited by this paper
• Association between microsatellites within the human MHC and nasopharyngeal carcinoma

  1997influential reference
• PLZF-RAR alpha fusion proteins generated from the variant t(11;17)(q23;q21) translocation in acute promyelocytic leukemia inhibit ligand-dependent transactivation of wild-type retinoic acid receptors.

  1994cited by this paper
• Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia.

  1993influential reference
• Acute promyelocytic leukemia.

  1993cited by this paper
• Fusion between a novel Krüppel‐like zinc finger gene and the retinoic acid receptor‐alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia.

  1993cited by this paper
• Regulation of the mature human T cell receptor gamma repertoire by biased V-J gene rearrangement.

  1993cited by this paper
• RARA and PML genes in acute promyelocytic leukemia.

  1992cited by this paper
• Molecular rearrangements of the MYL gene in acute promyelocytic leukemia (APL, M3) define a breakpoint cluster region as well as some molecular variants.

  1992cited by this paper
• The retinoic acid alpha receptor gene is frequently disrupted in its 5' part in Chinese patients with acute promyelocytic leukemia.

  1991cited by this paper
• Rearrangements in the second intron of the RARA gene are present in a large majority of patients with acute promyelocytic leukemia and are used as molecular marker for retinoic acid-induced leukemic cell differentiation.

  1991influential reference
• Monoallelic deletions of the P53 gene in Chinese patients with chronic myelogenous leukemia in blastic crisis.

  1991cited by this paper
• Philosophical Society of Washington

  1895cited by this paper

• Development, growth, and future of the Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College: 65 years tackling medical research paradigms

  2024cites this paper
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• Sharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance.

  2017cites this paper
• CHAPTER 37 – Public—Private Interactions in Genomic Medicine: Research and Development

  2009cites this paper
• Bioinformatics in China: A Personal Perspective

  2008cites this paper
• Biotechnology Research in China

  2007cites this paper
• From dissection of disease pathogenesis to elucidation of mechanisms of targeted therapies: leukemia research in the genomic era

  2007cites this paper
• Analysis of phenotype–genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond

  2007influential citation