Biomedical publications with connected research

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.

Human molecular genetics | 1994-06-01 | PMID 7951232

Buiting K, Dittrich B, Robinson W P and 4 more

Genes: SNRPN

Molecular genetic analysis of the 3p- syndrome.

Human molecular genetics | 1994-06-01 | PMID 7951234

Phipps M E, Latif F, Prowse A and 7 more

Genes: VHL, RAF1

Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype.

Human molecular genetics | 1994-06-01 | PMID 7951238

Saxena R, Shaw G L, Relling M V and 5 more

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

Human molecular genetics | 1994-06-01 | PMID 7951239

Rousseau F, Robb L J, Rouillard P and 1 more

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

Human molecular genetics | 1994-06-01 | PMID 7951246

Nouspikel T, Clarkson S G

Genes: ERCC5

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

Human molecular genetics | 1994-06-01 | PMID 7951247

Iles D E, Lehmann-Horn F, Scherer S W and 7 more

Genes: RYR1

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

Human molecular genetics | 1994-06-01 | PMID 7951250

Guilford P, Ayadi H, Blanchard S and 5 more

Genes: OMP

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.

Human mutation | 1994-01-01 | PMID 7951253

Roberts R G, Gardner R J, Bobrow M

Genes: DMD

Two coding change mutations in the HIS2(2) allele characterize the salivary histatin 3-2 protein variant.

Human mutation | 1994-01-01 | PMID 7951254

Sabatini L M, Azen E A

Genes: CGA, TAT

(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations.

Human mutation | 1994-01-01 | PMID 7951256

Olds R J, Lane D A, Chowdhury V and 4 more

Cooperative tumorigenic effects of germline mutations in Rb and p53.

Nature genetics | 1994-08-01 | PMID 7951317

Williams B O, Remington L, Albert D M and 3 more

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.

Nature genetics | 1994-08-01 | PMID 7951319

Bardoni B, Zanaria E, Guioli S and 7 more

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

Nature genetics | 1994-08-01 | PMID 7951324

Rubinsztein D C, Amos W, Leggo J and 7 more

Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene.

Nature genetics | 1994-08-01 | PMID 7951325

Zhang L, Leeflang E P, Yu J and 1 more

High-level salivary gland expression in transgenic mice.

Transgenic research | 1994-09-01 | PMID 7951333

Larsen H J, Brodersen C H, Hjorth J P

T-DNA-insert-independent mutations induced in transformed plant cells during Agrobacterium co-cultivation.

Transgenic research | 1994-09-01 | PMID 7951334

Márton L, Hrouda M, Pécsváradi A and 1 more

Genetic alterations in sporadic renal-cell carcinoma: molecular analyses of tumor suppressor gene harboring chromosomal regions 3p, 5q, and 17p.

World journal of urology | 1994-01-01 | PMID 7951344

Brauch H, Pomer S, Hieronymus T and 3 more

Genes: VHL

Effect of genetic factors on the criteria of stress in fighting bulls.

Veterinary research | 1994-01-01 | PMID 7951346

Osta R, Rodellar C, Garcia Belenguer S and 2 more

DNA polymorphism in the uncoupling protein (UCP) gene and human body fat.

International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity | 1994-08-01 | PMID 7951471

Oppert J M, Vohl M C, Chagnon M and 5 more

Subject-based reference values in thyroid function tests.

Endocrine journal | 1993-10-01 | PMID 7951521

Nagayama I, Yamamoto K, Saito K and 2 more

Genes: TRH

Gene screening of 23 Japanese families with complete thyroxine-binding globulin deficiency: identification of a nucleotide deletion at codon 352 as a common cause.

Endocrine journal | 1993-10-01 | PMID 7951522

Yamamori I, Mori Y, Miura Y and 4 more

Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.

Endocrine journal | 1994-06-01 | PMID 7951580

Tsutsumi O, Iida T, Taketani Y and 3 more

Genes: SRY

Maturity-onset diabetes of the young.

Current opinion in pediatrics | 1994-08-01 | PMID 7951673

Froguel P, Velho G

Apolipoprotein E epsilon 4 allele in Alzheimer's disease and vascular dementia.

Dementia (Basel, Switzerland) | 2000-01-01 | PMID 7951679

Frisoni G B, Calabresi L, Geroldi C and 6 more

Precore region mutation in hepatitis B virus genome in early stage of infection: a study in hepatitis B e antigen-positive young carriers.

Journal of gastroenterology | 1994-08-01 | PMID 7951858

Nguyen X T, Fukuda R, Fukumoto S

Screening for hydroxylation and acetylation polymorphisms in man via simultaneous analysis of urinary metabolites of mephenytoin, dextromethorphan and caffeine by capillary electrophoretic procedures.

Journal of chromatography. B, Biomedical applications | 1994-06-03 | PMID 7952033

Caslavska J, Hufschmid E, Theurillat R and 3 more

Analysis of urinary and biliary metabolites of (+)-4-[4-(4-methylphenyl)phenylmethoxy-1-piperidinyl]butyric acid in rats by liquid chromatography-frit-fast atom bombardment mass spectrometry.

Journal of chromatography. B, Biomedical applications | 1994-08-05 | PMID 7952117

Takahara E, Nagata O, Kato H and 2 more

Subcellular localization, abundance and stability of chitin synthetases 1 and 2 from Saccharomyces cerevisiae.

Microbiology (Reading, England) | 1994-09-01 | PMID 7952171

Leal-Morales C A, Bracker C E, Bartnicki-Garcia S

The 387 kb linear plasmid pPZG101 of Streptomyces rimosus and its interactions with the chromosome.

Microbiology (Reading, England) | 1994-09-01 | PMID 7952179

Gravius B, Glocker D, Pigac J and 3 more

Phenotypic and genotypic diversity of fluorescent pseudomonads isolated from field-grown sugar beet.

Microbiology (Reading, England) | 1994-09-01 | PMID 7952185

Rainey P B, Bailey M J, Thompson I P

Pipecolic acid is an osmoprotectant for Escherichia coli taken up by the general osmoporters ProU and ProP.

Microbiology (Reading, England) | 1994-09-01 | PMID 7952193

Gouesbet G, Jebbar M, Talibart R and 2 more

Transport of mannose by an inducible phosphoenolpyruvate:fructose phosphotransferase system in Streptococcus salivarius.

Microbiology (Reading, England) | 1994-09-01 | PMID 7952194

Pelletier G, Frenette M, Vadeboncoeur C

Genes: PTS

The molecular genetics of Huntington's disease.

Current opinion in neurology | 1994-08-01 | PMID 7952241

Goldberg Y P, Telenius H, Hayden M R

The local distribution of highly divergent mitochondrial DNA haplotypes in toque macaques Macaca sinica at Polonnaruwa, Sri Lanka.

Molecular ecology | 1994-10-01 | PMID 7952326

Hoelzer G A, Dittus W P, Ashley M V and 1 more

Paternity exclusion in a community of wild chimpanzees using hypervariable simple sequence repeats.

Molecular ecology | 1994-10-01 | PMID 7952327

Morin P A, Wallis J, Moore J J and 1 more

Fluorescent Pseudomonas species categorized by using polymerase chain reaction (PCR)/restriction fragment analysis of 16S rDNA.

Molecular ecology | 1994-10-01 | PMID 7952328

Laguerre G, Rigottier-Gois L, Lemanceau P

Microsatellite analysis of genetic variation in black bear populations.

Molecular ecology | 1994-10-01 | PMID 7952329

Paetkau D, Strobeck C

Molecular biogeography of clonal lineages in a high-arctic apomictic Daphnia complex.

Molecular ecology | 1994-10-01 | PMID 7952330

Weider L J, Hobaek A

Molecular separation of genera in Cassiinae (Leguminosae), and analysis of variation in the nodulating species of Chamaecrista.

Molecular ecology | 1994-10-01 | PMID 7952331

Whitty P W, Powell W, Sprent J I

Approaches to genetic studies of asthma.

American journal of respiratory and critical care medicine | 1994-11-01 | PMID 7952602

Meyers D A

Molecular genetic methods for mapping disease genes.

American journal of respiratory and critical care medicine | 1994-11-01 | PMID 7952603

Levitt R C

Exon 8 mutation of p53 gene associated with nodal metastasis in non-small-cell lung cancer.

American journal of respiratory and critical care medicine | 1994-12-01 | PMID 7952630

Lee L N, Shew J Y, Sheu J C and 7 more

Structure-function relationships in the tissue inhibitors of metalloproteinases.

American journal of respiratory and critical care medicine | 1994-12-01 | PMID 7952654

Willenbrock F, Murphy G

Conformational changes in serpins and the mechanism of alpha 1-antitrypsin deficiency.

American journal of respiratory and critical care medicine | 1994-12-01 | PMID 7952655

Carrell R W, Whisstock J, Lomas D A

Regulation of the alpha 1-antitrypsin gene and a disease-associated mutation in a related enhancer sequence.

American journal of respiratory and critical care medicine | 1994-12-01 | PMID 7952657

Kalsheker N A, Morgan K

Steady-state plasma concentrations of propafenone--chirality and metabolism.

International journal of clinical pharmacology and therapeutics | 1994-07-01 | PMID 7952800

Volz M, Mitrovic V, Schlepper M

Mitochondrial diseases.

Bailliere's clinical neurology | 1994-08-01 | PMID 7952850

Zeviani M, Taroni F

Multiple sclerosis.

Bailliere's clinical neurology | 1994-08-01 | PMID 7952852

Compston A, Kellar-Wood H, Wood N

Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders.

Bailliere's clinical neurology | 1994-08-01 | PMID 7952853

Chance P F, Lupski J R

Genes: PMP22

Myotonic disorders and periodic paralysis.

Bailliere's clinical neurology | 1994-08-01 | PMID 7952854

Carey N, Johnson K J

Function of glycoprotein B homologues of the family herpesviridae.

Infectious agents and disease | 1994-02-01 | PMID 7952927

Pereira L

The genetics of mental retardation.

The British journal of psychiatry : the journal of mental science | 1994-06-01 | PMID 7952981

Thapar A, Gottesman I I, Owen M J and 2 more

Cancer genetics. Is p53 the only real tumor suppressor gene?

Current biology : CB | 1994-02-01 | PMID 7953514

Berns A

Neurotrophins. Keeping track of changing neurotrophic theory.

Current biology : CB | 1994-07-01 | PMID 7953551

Johnson J, Oppenheim R

Microsatellite markers and the analysis of genetic disease.

The British veterinary journal | 2000-01-01 | PMID 7953576

Holmes N G

Characterization of different neuron populations in mouse statoacoustic ganglion cultures.

Brain research | 1994-08-01 | PMID 7953737

Rabejac D, Raymond J, Dechesne C J

Genes: SAG

Stimulation of partial development of human mast cells by supernatant fluid from mouse fibroblast cultures.

Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology | 1994-07-01 | PMID 7953947

Dvorak A M, Mitsui H, Ishizaka T

A phase I trial of intrahepatic verapamil and doxorubicin. Regional therapy to overcome multidrug resistance.

Cancer | 1994-11-15 | PMID 7954234

Saltz L, Murphy B, Kemeny N and 7 more

Multiple lymphomatous polyposis of the gastrointestinal tract. An extensive histopathologic and immunohistochemical study of 12 cases.

Cancer | 1994-12-01 | PMID 7954267

Lavergne A, Brouland J P, Launay E and 3 more

Germline and somatic abnormalities of chromosome 7 in Wilms' tumor.

Cancer genetics and cytogenetics | 1994-10-15 | PMID 7954327

Wilmore H P, White G F, Howell R T and 1 more

Asparagine markedly induces the expression of ornithine decarboxylase gene in transformed mammalian cells but not in their untransformed counterparts.

Cancer letters | 1994-10-28 | PMID 7954361

Chen Z P, Chen K Y

p53 proteins accumulated by heat stress associate with heat shock proteins HSP72/HSC73 in human glioblastoma cell lines.

Cancer letters | 1994-11-25 | PMID 7954368

Matsumoto H, Shimura M, Omatsu T and 3 more

Different susceptibility to smoking-induced DNA damage among male and female lung cancer patients.

Cancer research | 1994-11-15 | PMID 7954403

Ryberg D, Hewer A, Phillips D H and 1 more

p53 gene mutations are associated with decreased sensitivity of human lymphoma cells to DNA damaging agents.

Cancer research | 1994-11-15 | PMID 7954409

Fan S, el-Deiry W S, Bae I and 7 more

Glutamine modulates phenotype and stimulates proliferation in human colon cancer cell lines.

Cancer research | 1994-11-15 | PMID 7954430

Turowski G A, Rashid Z, Hong F and 2 more

p53 deletion as a genetic marker in urothelial tumor by fluorescence in situ hybridization.

Cancer research | 1994-12-01 | PMID 7954445

Matsuyama H, Pan Y, Mahdy E A and 7 more

Transforming growth factor beta 1 promotes spontaneous transformation of cultured rat liver epithelial cells.

Cancer research | 1994-12-01 | PMID 7954458

Zhang X, Wang T, Batist G and 1 more

Mutations in human O6-alkylguanine-DNA alkyltransferase imparting resistance to O6-benzylguanine.

Cancer research | 1994-12-01 | PMID 7954470

Crone T M, Goodtzova K, Edara S and 1 more

Genes: AGT

Allelotype analysis of mouse lung carcinomas reveals frequent allelic losses on chromosome 4 and an association between allelic imbalances on chromosome 6 and K-ras activation.

Cancer research | 1994-12-01 | PMID 7954475

Hegi M E, Devereux T R, Dietrich W F and 6 more

Loss of heterozygosity identifies multiple sites of allelic deletions on chromosome 1 in human male germ cell tumors.

Cancer research | 1994-12-01 | PMID 7954476

Mathew S, Murty V V, Bosl G J and 1 more

A truncated beta-catenin disrupts the interaction between E-cadherin and alpha-catenin: a cause of loss of intercellular adhesiveness in human cancer cell lines.

Cancer research | 1994-12-01 | PMID 7954478

Oyama T, Kanai Y, Ochiai A and 7 more

Notch is required for wingless signaling in the epidermis of Drosophila.

Cell | 1994-10-21 | PMID 7954794

Couso J P, Martinez Arias A

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.

Cell | 1994-11-04 | PMID 7954808

Shimkets R A, Warnock D G, Bositis C M and 7 more

Rit1, a tRNA backbone-modifying enzyme that mediates initiator and elongator tRNA discrimination.

Cell | 1994-11-04 | PMID 7954819

Aström S U, Byström A S

Genes: RIT1

fringe, a Boundary-specific signaling molecule, mediates interactions between dorsal and ventral cells during Drosophila wing development.

Cell | 1994-11-18 | PMID 7954826

Irvine K D, Wieschaus E

Mice lacking vimentin develop and reproduce without an obvious phenotype.

Cell | 1994-11-18 | PMID 7954832

Colucci-Guyon E, Portier M M, Dunia I and 3 more

Amyloid fibrils in Gerstmann-Sträussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele.

Cell | 1994-11-18 | PMID 7954833

Tagliavini F, Prelli F, Porro M and 7 more

Genes: GSS, PRNP

Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse.

Cell | 1994-11-18 | PMID 7954835

Geppert M, Goda Y, Hammer R E and 4 more

Specific T-cell factors that initiate cellular immune responses are produced by CD4-, CD8-, V beta 8- lymphocytes and are present in nude mice.

Cellular immunology | 1994-11-01 | PMID 7954837

Vandebriel R J, De Weger R A, Van Loveren H and 4 more

Gamma delta T cells from influenza-infected mice develop a natural killer cell phenotype following culture.

Cellular immunology | 1994-11-01 | PMID 7954844

Eichelberger M, Doherty P C

Microtubule-associated protein function: lessons from expression in Spodoptera frugiperda cells.

Cell motility and the cytoskeleton | 1994-01-01 | PMID 7954847

Kosik K S, McConlogue L

Genes: MAP2

A conserved region in the tail domain of vimentin is involved in its assembly into intermediate filaments.

Cell motility and the cytoskeleton | 1994-01-01 | PMID 7954854

Makarova I, Carpenter D, Khan S and 1 more

ERV1 is involved in the cell-division cycle and the maintenance of mitochondrial genomes in Saccharomyces cerevisiae.

Current genetics | 1994-07-01 | PMID 7954891

Lisowsky T

p53 mutations in lung cancers from Japanese mustard gas workers.

Carcinogenesis | 1994-10-01 | PMID 7955036

Takeshima Y, Inai K, Bennett W P and 7 more

Contrasting incidence of ras mutations in rat mammary and mouse skin tumors induced by anti-benzo[c]phenanthrene-3,4-diol-1,2-epoxide.

Carcinogenesis | 1994-10-01 | PMID 7955041

Ronai Z A, Gradia S, el-Bayoumy K and 2 more

An assay for O6-alkylguanine-DNA alkyltransferase based on restriction endonuclease inhibition and magnetic bead separation of products.

Carcinogenesis | 1994-10-01 | PMID 7955046

Wilson B D, Strauss M, Stickells B J and 2 more

Genes: AGT

Increased susceptibility to in vitro transformation of cells carrying the Eker tumor susceptibility mutation.

Carcinogenesis | 1994-10-01 | PMID 7955051

Horesovsky G, Ginsler J, Everitt J and 1 more

DNA replication arrest and tolerance to DNA methylation damage.

Carcinogenesis | 1994-10-01 | PMID 7955052

Zhukovskaya N, Branch P, Aquilina G and 1 more

ras proto-oncogene activation in dichloroacetic acid-, trichloroethylene- and tetrachloroethylene-induced liver tumors in B6C3F1 mice.

Carcinogenesis | 1994-10-01 | PMID 7955063

Anna C H, Maronpot R R, Pereira M A and 3 more

p53 is overexpressed in fifty percent of pre-invasive lesions of head and neck epithelium.

Carcinogenesis | 1994-10-01 | PMID 7955065

Sauter E R, Cleveland D, Trock B and 2 more

Influence of sex and carcinogen treatment protocol on tumor latency and frequency of K-ras mutations in N-methyl-N-nitrosourea-induced lymphomas.

Carcinogenesis | 1994-10-01 | PMID 7955066

Romach E, Moore J, Rummel S and 1 more

Computer program for the analysis of mutational spectra: application to p53 mutations.

Carcinogenesis | 1994-10-01 | PMID 7955067

Cariello N F, Piegorsch W W, Adams W T and 1 more

Mutagenicity of o-anisidine to the bladder of lacI- transgenic B6C3F1 mice: absence of 14C or 32P bladder DNA adduction.

Carcinogenesis | 1994-10-01 | PMID 7955069

Ashby J, Short J M, Jones N J and 7 more

Regulation of [Ah] gene battery enzymes and glutathione levels by 5,10-dihydroindeno[1,2-b]indole in mouse hepatoma cell lines.

Carcinogenesis | 1994-10-01 | PMID 7955076

Liu R M, Vasiliou V, Zhu H and 6 more

p53 mutations in early neoplastic lesions of the urinary bladder in rats treated with N-butyl-N-(4-hydroxybutyl)nitrosamine.

Carcinogenesis | 1994-10-01 | PMID 7955081

Masui T, Don I, Takada N and 3 more

Polycyclic aromatic hydrocarbon-DNA adducts in smokers and their relationship to micronutrient levels and the glutathione-S-transferase M1 genotype.

Carcinogenesis | 1994-11-01 | PMID 7955090

Grinberg-Funes R A, Singh V N, Perera F P and 5 more

Genes: PAH, GSTM1

Transformation of hamster pancreatic duct cells by 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), in vitro.

Carcinogenesis | 1994-11-01 | PMID 7955092

Baskaran K, Laconi S, Reddy M K

Cell proliferation and cell death (apoptosis) in hepatic preneoplasia and neoplasia are closely related to phenotypic cellular diversity and instability.

Carcinogenesis | 1994-11-01 | PMID 7955093

Zerban H, Radig S, Kopp-Schneider A and 1 more

Genes: FAH

Tumor multiplicity, DNA adducts and K-ras mutation pattern of 5-methylchrysene in strain A/J mouse lung.

Carcinogenesis | 1994-11-01 | PMID 7955114

You L, Wang D, Galati A J and 7 more

Activation of H-ras is prevalent in 1,3-butadiene-induced and spontaneously occurring murine Harderian gland tumors.

Carcinogenesis | 1994-11-01 | PMID 7955123

Goodrow T L, Nichols W W, Storer R D and 2 more

Genes: CGA