Biochemical Genetics and Pharmacogenetics

• Identification and Characterization of the Hypoxia-Responsive Element of the Human Placental 6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase Gene -- Fukasawa et al. 136 (3): 273 -- Journal of Biochemistry
• Transcriptional Coactivators CBP and p300 Cooperatively Enhance HNF-1{alpha}-Mediated Expression of the Albumin Gene in Hepatocytes -- Dohda et al. 136 (3): 313 -- Journal of Biochemistry
• Small molecule approach to studying protein tyrosine phosphatase.
• The Emerging Pharmacogenomics of the beta-Adrenergic Receptors.
• Phenotology of disease-linked proteins

Cytogenetics and Somatic Cell Genetics

• Blood-Brain Barrier Genomics, Proteomics, and New Transporter Discovery -- Shusta 2 (1): 151 -- NeuroRx
• Multiple spatially distinct types of facultative heterochromatin on the human inactive X chromosome -- Chadwick and Willard 101 (50): 17450 -- Proceedings of the National Academy of Sciences
• From the Cover: Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses -- Weiler et al. 101 (50): 17504 -- Proceedings of the National Academy of Sciences

Immunogenetics

• The immunogenetics of asthma and eczema: a new focus on the epithelium.

Mutations and Mutagenesis

• Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients. Genet. Mol. Biol., 2004, vol.27, no.3, p.326-330.
• Effect of amikacin, cephalothin, clindamycin and vancomycin on in vitro fibroblast growth. Genet. Mol. Biol., 2004, vol.27, no.3, p.454-459.
• Cytogenetic analysis of the effects of 2.5 and 10.5 GHz microwaves on human lymphocytes. Genet. Mol. Biol., 2004, vol.27, no.3, p.460-466.
• Effect of Black Tea Intake on the Excretion of Mutagens in the Urine of Volunteers Taking a Beef Meal -- Yoxall et al. 13 (12): 2196 -- Cancer Epidemiology Biomarkers & Prevention
• Identification and functional analysis of a novel inactivating mutation (A804D) of the calcium-sensing receptor gene.
• HAEdb: A novel interactive, locus-specific mutation database for the C1 inhibitor gene
• Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutation

Molecular Genetics

• Messenger RNA Turnover in Eukaryotes: Pathways and Enzymes -- Meyer et al. 39 (4): 197 -- Critical Reviews in Biochemistry and Molecular Biology

Gene Therapy

• Phase I/II trial of gene therapy with autologous tumor cells modified with tag7/PGRP-S gene in patients with disseminated solid tumors: Miscellaneous tumors -- Moiseyenko et al. 16 (1): 162 -- Annals of Oncology
• Tyrosine Hydroxylase Replacement in Experimental Parkinson's Disease with Transvascular Gene Therapy -- Pardridge 2 (1): 129 -- NeuroRx
• Noninvasive radiological imaging of pulmonary gene transfer and expression using the human sodium iodide symporter.
• Monitoring HSVtk suicide gene therapy: the role of [(18)F]FHPG membrane transport.
• Effect of altering titer, serotype, and promoter in recombinant adenoassociate virus gene therapy expression of spinal cord neurons and astrocytes.
• Phase I/II trial of gene therapy with autologous tumor cells modified with tag7/PGRP-S gene in patients with disseminated solid tumors: Miscellaneous tumors.
• Gene transduction in skin cells: Preventing cancer in xeroderma pigmentosum mice.
• Ex vivo transfer of the decorin gene into rat glomerulus via a mesangial cell vector suppressed extracellular matrix accumulation in experimental glomerulonephritis.
• Mechanisms of thymidine kinase/ganciclovir and cytosine deaminase/ 5-fluorocytosine suicide gene therapy-induced cell death in glioma cells.
• Dominant negative inhibitors of signalling through the phosphoinositol 3-kinase pathway for gene therapy of pancreatic cancer.

Cloning and Stem Cells

• A crucial role of caspase-3 in osteogenic differentiation of bone marrow stromal stem cells.
• Maintenance of differentiation potential of human bone marrow mesenchymal stem cells immortalized by human telomerase reverse transcriptase gene despite of extensive proliferation.

Genetics of Normal Features

• Aortic elastic properties in athletes with Marfanoid habitus: the need for early and accurate diagnostic methods -- Kasikcioglu 26 (1): 100 -- European Heart Journal
• Amygdala-prefrontal coupling depends on a genetic variation of the serotonin transporter.

Population Genetics and Quantitative Genetics

• CCR5D32 mutation in three Brazilian populations of predominantly Sub-Saharan African ancestry. Genet. Mol. Biol., 2004, vol.27, no.3, p.321-325.
• (TTTA)n polymorphism of CYP19 (aromatase gene) in Euro- and Afro-Brazilians. Genet. Mol. Biol., 2004, vol.27, no.3, p.335-336.
• MTHFR Polymorphisms, Diet, HRT, and Breast Cancer Risk: The Multiethnic Cohort Study -- Le Marchand et al. 13 (12): 2071 -- Cancer Epidemiology Biomarkers & Prevention
• Prevalence of BRCA1 Mutation Carriers among U.S. Non-Hispanic Whites -- Whittemore et al. 13 (12): 2078 -- Cancer Epidemiology Biomarkers & Prevention
• Uptake of Offer to Receive Genetic Information about BRCA1 and BRCA2 Mutations in an Australian Population-Based Study -- Keogh et al. 13 (12): 2258 -- Cancer Epidemiology Biomarkers & Prevention

Twin Study

• Three-dimensional assessment of the relative contribution of genetics and environment to various facial parameters with the twin method.

Animal Models

• Animal models for human contiguous gene syndromes and other genomic disorders ( Genet. Mol. Biol. vol.27 no.3, p.305-320 )
• Accelerated LV remodeling after myocardial infarction in TIMP-1-deficient mice: effects of exogenous MMP inhibition -- Ikonomidis et al. 288 (1): H149 -- AJP - Heart and Circulatory Physiology
• From the Cover: Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses -- Weiler et al. 101 (50): 17504 -- Proceedings of the National Academy of Sciences
• Immune-based disease; complex genetics meets immunology.
• Stat3 links activated keratinocytes and immunocytes required for development of psoriasis in a novel transgenic mouse model.

Cancer Genetics

• Proteomic analysis for the early detection and rational treatment of cancer--realistic hope? -- Posadas et al. 16 (1): 16 -- Annals of Oncology
• Utilization of Screening and Preventive Surgery Among Unaffected Carriers of a BRCA1 or BRCA2 Gene Mutation -- Wainberg and Husted 13 (12): 1989 -- Cancer Epidemiology Biomarkers & Prevention
• Polymorphism in the DNA Repair Gene XPD, Polycyclic Aromatic Hydrocarbon-DNA Adducts, Cigarette Smoking, and Breast Cancer Risk -- Terry et al. 13 (12): 2053 -- Cancer Epidemiology Biomarkers & Prevention
• ERCC2 Genotypes and a Corresponding Haplotype Are Linked with Breast Cancer Risk in a German Population -- Justenhoven et al. 13 (12): 2059 -- Cancer Epidemiology Biomarkers & Prevention
• Synergistic Effects of STK15 Gene Polymorphisms and Endogenous Estrogen Exposure in the Risk of Breast Cancer -- Dai et al. 13 (12): 2065 -- Cancer Epidemiology Biomarkers & Prevention
• MTHFR Polymorphisms, Diet, HRT, and Breast Cancer Risk: The Multiethnic Cohort Study -- Le Marchand et al. 13 (12): 2071 -- Cancer Epidemiology Biomarkers & Prevention
• Progesterone Receptor Promoter +331A Polymorphism is Associated with a Reduced Risk of Endometrioid and Clear Cell Ovarian Cancers -- Berchuck et al. 13 (12): 2141 -- Cancer Epidemiology Biomarkers & Prevention
• Colorectal Cancer and the Methylenetetrahydrofolate Reductase 677C -> T and Methionine Synthase 2756A -> G Polymorphisms: A Study of 2,168 Case-Control Pairs from the JANUS Cohort -- Ulvik et al. 13 (12): 2175 -- Cancer Epidemiology Biomarkers & Prevention
• p53 Codon 72 and p21 Codon 31 Polymorphisms in Prostate Cancer -- Huang et al. 13 (12): 2217 -- Cancer Epidemiology Biomarkers & Prevention
• Association between the Risk for Lung Adenocarcinoma and a (-4) G-to-A Polymorphism in the XPA Gene -- Butkiewicz et al. 13 (12): 2242 -- Cancer Epidemiology Biomarkers & Prevention
• Polymorphism in the Thymidylate Synthase Promoter Enhancer Region and Risk of Colorectal Adenomas -- Chen et al. 13 (12): 2247 -- Cancer Epidemiology Biomarkers & Prevention
• Variants of the IL8 and IL8RB Genes and Risk for Gastric Cardia Adenocarcinoma and Esophageal Squamous Cell Carcinoma -- Savage et al. 13 (12): 2251 -- Cancer Epidemiology Biomarkers & Prevention
• MTHFR Polymorphisms and Risk of Chronic Lymphocytic Leukemia -- Rudd et al. 13 (12): 2268 -- Cancer Epidemiology Biomarkers & Prevention
• Association of a Common Variant of the CASP8 Gene With Reduced Risk of Breast Cancer, JNCI - Cancer Spectrum: MacPherson et al., 96(24):1866-1869.
• Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis -- Crooks et al. 101 (50): 17462 -- Proceedings of the National Academy of Sciences
• Molecular biomarker in prostate cancer: the role of CpG island hypermethylation.
• Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients
• Description of the international consortium for prostate cancer genetics, and failure to replicate linkage of hereditary prostate cancer to 20q13.

Monogenic Disorders

• Consistency in gene-Alzheimer's disease association studies -- Llorca et al. 59 (1): 83 -- Journal of Epidemiology and Community Health
• Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes -- Mohler et al. 101 (50): 17533 -- Proceedings of the National Academy of Sciences
• Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features -- Proks et al. 101 (50): 17539 -- Proceedings of the National Academy of Sciences
• Thrombophilia Screening and Ischemic Stroke, Dec 13/27, 2004, Butler and Neilson, Arch Intern Med. 164 (22): 2502
• DNA Vaccination May Open Up a New Avenue for Treatment of Alzheimer Disease, Arch Neurol. 2004, Tsuji 61 (12): 1832
• Efficacy of Donepezil in Early-Stage Alzheimer Disease: A Randomized Placebo-Controlled Trial, Arch Neurol. 2004, Seltzer et al. 61 (12): 1852
• Gene Vaccination to Bias the Immune Response to Amyloid-{beta} Peptide as Therapy for Alzheimer Disease, Arch Neurol. 2004, Qu et al. 61 (12): 1859
• Atlastin1 Mutations Are Frequent in Young-Onset Autosomal Dominant Spastic Paraplegia, Arch Neurol. 2004, Dürr et al. 61 (12): 1867
• Analysis of the PINK1 Gene in a Large Cohort of Cases With Parkinson Disease, Arch Neurol. 2004, Rogaeva et al. 61 (12): 1898
• APOE Genotype, Family History of Dementia, and Alzheimer Disease Risk: A 6-Year Follow-up Study, Arch Neurol. 2004, Huang et al. 61 (12): 1930
• Musculoskeletal Pain in Patients With Myotonic Dystrophy Type 2, Arch Neurol. 2004, George et al. 61 (12): 1938
• Characterization of the Pattern of Cognitive Impairment in Myotonic Dystrophy Type 1, Arch Neurol. 2004, Modoni et al. 61 (12): 1943
• Congenital Adrenal Hyperplasia and Multiple Sclerosis: Is There an Increased Risk of Multiple Sclerosis in Individuals With Congenital Adrenal Hyperplasia?, Arch Neurol. 2004, Bergamaschi et al. 61 (12): 1953
• Phenotypic and Molecular Analyses of X-linked Dystonia-Parkinsonism ("Lubag") in Women, Arch Neurol. 2004, Evidente et al. 61 (12): 1956
• A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12 -- Lossos et al. 128 (1): 42 -- Brain
• Motor inhibition in patients with Gilles de la Tourette syndrome: functional activation patterns as revealed by EEG coherence -- Serrien et al. 128 (1): 116 -- Brain
• New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis -- Vicart et al. 63 (11): 2120 -- Neurology
• Hereditary spastic paraplegia with frontal lobe dysfunction: A clinicopathologic study -- Yanase et al. 63 (11): 2149 -- Neurology
• De novo KCNQ2 mutations in patients with benign neonatal seizures -- Claes et al. 63 (11): 2155 -- Neurology
• Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease) -- Oliveira et al. 63 (11): 2165 -- Neurology
• Ataxia with oculomotor apraxia type 1 in Southern Italy: Late onset and variable phenotype -- Criscuolo et al. 63 (11): 2173 -- Neurology
• Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene -- De Angelis et al. 63 (11): 2180 -- Neurology
• The fragile X premutation presenting as postprandial hypotension
• Heterozygous Niemann-Pick disease type C presenting with tremor
• Glycine Encephalopathy - GeneReviews
• Familial Hemiplegic Migraine - GeneReviews
• Hypertrophic cardiomyopathy: pathological features and molecular pathogenesis.
• Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
• Impaired permeability to Ins(1,4,5)P(3) in a mutant connexin underlies recessive hereditary deafness.
• Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
• Genomic structure of the human gene for protein kinase A regulatory subunit R1-beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type II in a large affected kindred.
• Delta(1)-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
• KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
• The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations
• Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy
• Molecular and muscle pathology in a series of caveolinopathy patients
• Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1
• Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree
• Nijmegen breakage syndrome diagnosed as Fanconi anaemia.

Multifactorial Disorders

• Apolipoprotein E polymorphism as a predictor for cognitive decline and dementia in the Saudi general population over 65 years. Genet. Mol. Biol., 2004, vol.27, no.3, p.331-334.
• Genome-Wide Analysis of the Parkinsonism-Dementia Complex of Guam, Arch Neurol. 2004, Morris et al. 61 (12): 1889
• Polymorphisms of IL4, IL13, and ADRB2 Genes in COPD -- Hegab et al. 126 (6): 1832 -- Chest
• High prevalence of coeliac disease in siblings of children with type 1 diabetes.

Mitochondrial Disorders

• Mitochondrial Defects May Play Role in the Metabolic Syndrome, Tracy Hampton, JAMA. 2004;292(23):2823-2824.
• Studies of COX16, COX19, and PET191 in Human Cytochrome-c Oxidase Deficiency, Arch Neurol. 2004, Tay et al. 61 (12): 1935
• Neuropathology of white matter disease in Leber's hereditary optic neuropathy -- Kovács et al. 128 (1): 35 -- Brain

DYSMORPHOLOGY

• Prenatal magnetic resonance imaging of rhombencephalosynapsis and associated brain anomalies: report of 3 cases.
• A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications.
• Diagnosis in dysmorphology: clues from the skin.
• From developmental genes to dysmorphology: human development at its best.
• Dysmorphology and the orbital region: a practical clinical approach.

Nonsyndromal Birth Defects

• Genome-Wide Scan for Japanese Familial Intracranial Aneurysms: Linkage to Several Chromosomal Regions -- Yamada et al. 110 (24): 3727 -- Circulation
• Prenatal Environmental Tobacco Smoke Exposure Promotes Adult Atherogenesis and Mitochondrial Damage in Apolipoprotein E-/- Mice Fed a Chow Diet -- Yang et al. 110 (24): 3715 -- Circulation
• Middle interhemispheric variant of holoprosencephaly: A very mild clinical case
• A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD)
• The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

Chromosomal Disorders

• Placental growth hormone in Down's syndrome screening.

Syndromology

• Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome. Genet. Mol. Biol., 2004, vol.27, no.3, p.337-341.
• Aortic elastic properties in athletes with Marfanoid habitus: the need for early and accurate diagnostic methods -- Kasikcioglu 26 (1): 100 -- European Heart Journal
• Aortic elastic properties in athletes with Marfanoid habitus: the need for early and accurate diagnostic methods: reply -- Nollen et al. 26 (1): 100 -- European Heart Journal
• Fragile X syndrome: (What's) lost in translation? -- Miyashiro and Eberwine 101 (50): 17329 -- Proceedings of the National Academy of Sciences
• From the Cover: Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses -- Weiler et al. 101 (50): 17504 -- Proceedings of the National Academy of Sciences
• Tobacco Use and Increased Colorectal Cancer Risk in Patients With Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome), Dec 13/27, 2004, Watson et al., Arch Intern Med. 164 (22): 2429
• Hereditary Diffuse Gastric Cancer - GeneReviews
• Ambras syndrome: report on two affected siblings with no prior family history.
• A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus.
• Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG.
• Nasopharyngeal teratoma and diaphragmatic hernia: a non random association?
• Acromegaloid facial appearance syndrome: a further case report.
• Hypertrichosis, Fallot tetralogy, growth and developmental delay.
• Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.
• The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
• DNMT3B mutations and DNA methylation defect define two types of ICF syndrome
• Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene
• Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

Teratology

• Carbimazole embryopathy: An emerging phenotype.
• Low dose methotrexate in the first trimester of pregnancy: results of a French collaborative study.
• Postmarketing surveillance for drug safety in pregnancy: The Organization of Teratology Information Services Project.

Genetic Prevention

• Free Fetal DNA in Maternal Circulation, December 15, 2004, Lo et al. 292 (23): 2835