Research Themes at our Laboratory

Genomics

Human chromosome 21 / Down Syndrome

• RCAN (regulator of calcineurin) gene family in PubMed (previously DSCR1-like family)
• RCAN entries at HUGO Human Gene Nomenclature committee
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• CYYR1 gene (C21orf95) - APUD system - Carcinoid tumors
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• Down Syndrome: OMIM ENTRY #190685
• Down Syndrome at Medline Plus - Health Information
• National Down Syndrome Society: Research
• Down Syndrome Research Center - Stanford University School of Medicine
• Report on "The Expert Workshop on the biology of chromosome 21"
• Frequency of Down syndrome per maternal age
• DS Health Care Guidelines, 96
• DS Pheno Map - from J. Korenberg Laboratory
• Trisomy 21 Features
• Human Chromosome 21 links
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• The Dysmorphic Human-Mouse Homology Database - (DHMHD)
• Trisomy 21 cell lines
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• Down Syndrome on the Internet
• Sindrome di Down (Ita) - FAQ sulla Sindrome di Down (Ita) - Conosciamoci Meglio Down (Ita)

J�r�me Lejeune

Lejeune Publications - Site de la Fondation Lejeune
Links to Books/Videos
Articoli
2023-10-20 - ITA - "Se la scienza � plasmata da un'attrattiva" - Tracce

Human genome

• Original Software:
• GeneRecords - GenBank flat file full parsing
• UniGene Tabulator - UniGene parser

Cancer

Colon cancer

• Search blood RT-PCR for colon cancer

Anal cancer

• Anal cancer at CancerNet

Breast cancer

• Gene expression profiling predicts clinical outcome of breast cancer
• Alimenti grassi e tumore al seno (Ita)

Neuroblastoma

• Neuroblastoma at CancerNet

Experimental Hematology

Diamond-Blackfan Anemia

• DBA: OMIM ENTRY 205900
• rps19: OMIM ENTRY 603474

Fanconi's Anemia

• FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA -  OMIM ENTRY *227650
• FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB - OMIM ENTRY *227660
• FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC - OMIM ENTRY *227645
• FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 - OMIM ENTRY *605724
• FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 - OMIM ENTRY *227646
• FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE - OMIM ENTRY *600901
• FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF - OMIM ENTRY *603467
• FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG - OMIM ENTRY *602956
• FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI - OMIM ENTRY *609053
• FANCONI ANEMIA, COMPLEMENTATION GROUP J - OMIM ENTRY *609054
• FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL - OMIM ENTRY *608111
• FANCONI ANEMIA, COMPLEMENTATION GROUP M; FANCM - OMIM ENTRY *609644
• FANCONI ANEMIA, COMPLEMENTATION GROUP N - OMIM ENTRY *610832
• FANCONI ANEMIA in OMIM
• Fanconi Anemia Research Fund

TAR Syndrome

• Thrombocytopenia Absent Radius Syndrome - OMIM Entry *274000
• Thrombocytopenia Absent Radius Syndrome Association

AIDS

• Retrovirus resources at NCBI
• Retroviruses in GenBank: Genoyping
• Geno2pheno - estimating phenotypic drug resistance from HIV-1 genotypes (Beerenwinkel et al., 2003)
• Duesberg on AIDS

Other

Obesity

• The New York Obesity Research Center
• Obesity Research Center at St. Luke's-Roosevelt Hospital Center
• 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1 - OMIM ENTRY *600713
• Enzyme 1.1.1.146
• UniGene-Hydroxysteroid (11-beta) dehydrogenase 2

Prions

• Human PrP entry - SWISS-PROT
• Molecular Biology of prion propagation  (Wadsworth et al., 1999)
• Recent works about: BSE in primates, infection oral route in mice, vCJD in mice.
• The UK Creutzfeldt-Jakob Disease Surveillance Unit - CJD Statistics
• The European and Allied Countries Collaborative Study Group of CJD (EUROCJD)
• Variant Creutzfeldt-Jakob Disease facts at World Health Organization
• Mad-cow disease.org

DNA