Biomedical publications with connected research

Restriction isotyping of the premature termination variant of lipoprotein lipase in Alberta Hutterites.

Clinical biochemistry | 1996-02-01 | PMID 8929826

Hegele R A, Gandhi S, Brunt J H and 1 more

Genes: LPL

Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus.

Pediatric research | 1996-03-01 | PMID 8929875

Tajima T, Nakae J, Takekoshi Y and 4 more

Genes: AVPR2, AVP

Gene deletions in spinal muscular atrophy.

Journal of medical genetics | 1996-02-01 | PMID 8929942

Rodrigues N R, Owen N, Talbot K and 5 more

Genes: NAIP

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Journal of medical genetics | 1996-02-01 | PMID 8929943

Passos-Bueno M R, Moreira E S, Marie S K and 10 more

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

Journal of medical genetics | 1996-02-01 | PMID 8929944

Gu S M, Orth U, Veske A and 6 more

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Journal of medical genetics | 1996-02-01 | PMID 8929945

Smith A, Wiles C, Haan E and 7 more

Association between alcoholism and the dopamine D4 receptor gene.

Journal of medical genetics | 1996-02-01 | PMID 8929946

Muramatsu T, Higuchi S, Murayama M and 2 more

Genes: ALDH2

A genetic register for von Hippel-Lindau disease.

Journal of medical genetics | 1996-02-01 | PMID 8929948

Maddock I R, Moran A, Maher E R and 9 more

Genes: VHL

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Journal of medical genetics | 1996-02-01 | PMID 8929950

Sidransky E, Tayebi N, Stubblefield B K and 7 more

On the genetics of hypodontia and microdontia: synergism or allelism of major genes in a family with six affected members.

Journal of medical genetics | 1996-02-01 | PMID 8929951

Lyngstadaas S P, Nordbo H, Gedde-Dahl T and 1 more

A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.

Journal of medical genetics | 1996-02-01 | PMID 8929952

Evans B A, Bowen D J, Smith P J and 2 more

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

Journal of medical genetics | 1996-02-01 | PMID 8929953

Upadhyaya M, Roberts S H, Maynard J and 5 more

Nijmegen breakage syndrome.

Journal of medical genetics | 1996-02-01 | PMID 8929954

van der Burgt I, Chrzanowska K H, Smeets D and 1 more

Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.

Journal of medical genetics | 1996-02-01 | PMID 8929956

Guldberg P, Levy H L, Henriksen K F and 1 more

Genes: PAH

Three distinct neuronal phenotypes exist in embryonic rat hippocampal neurons cultured in basic fibroblast growth factor.

Neuroscience letters | 1996-02-02 | PMID 8929964

Eubanks J H, Perez-Velazquez J L, Kerr R G and 3 more

No association between Parkinson's disease and monoamine oxidase A and B gene polymorphisms.

Neuroscience letters | 1996-02-02 | PMID 8929994

Nanko S, Ueki A, Hattori M

Genes: MAOA, MAOB

Lack of association of the apoE4 allele with hippocampal sclerosis dementia.

Neuroscience letters | 1996-02-02 | PMID 8929997

Troncoso J C, Kawas C H, Chang C K and 2 more

Polymorphism at the ovine major histocompatibility complex class II loci.

Animal genetics | 1996-10-01 | PMID 8930070

Escayg A P, Hickford J G, Montgomery G W and 2 more

Genes specifying receptors for F18 fimbriated Escherichia coli, causing oedema disease and postweaning diarrhoea in pigs, map to chromosome 6.

Animal genetics | 1996-10-01 | PMID 8930072

Vögeli P, Bertschinger H U, Stamm M and 5 more

Genes: RYR1, GPI, PGD

Variants within the 5'-flanking region and the intron I of the bovine growth hormone gene.

Animal genetics | 1996-10-01 | PMID 8930073

Hecht C, Geldermann H

Genes: EBP

Detection of nucleotide variations in the D-loop region of bovine mitochondrial DNA using polymerase chain reaction-based methodologies.

Animal genetics | 1996-10-01 | PMID 8930074

Eledath F M, Hines H C

Characterizing dog breed differentiation with microsatellite markers.

Animal genetics | 1996-10-01 | PMID 8930076

Pihkanen S, Väinölä R, Varvio S

Molecular genetic characterization of new bovine kappa-casein alleles CSN3F and CSN3G and genotyping by PCR-RFLP.

Animal genetics | 1996-10-01 | PMID 8930077

Prinzenberg E M, Hiendleder S, Ikonen T and 1 more

Genes: CSN3

Characterization of 42 highly polymorphic bovine microsatellite markers.

Animal genetics | 1996-10-01 | PMID 8930081

Hirano T, Nakane S, Mizoshita K and 5 more

Quantitative differences in the circadian rhythm of locomotor activity and vasopressin and vasoactive intestinal peptide gene expression in the suprachiasmatic nucleus of tau mutant compared to wildtype hamsters.

Brain research | 1996-10-14 | PMID 8930331

Scarbrough K, Turek F W

Genes: AVP, VIP

kappa-opioid receptor expression defines a phenotypically distinct subpopulation of astroglia: relationship to Ca2+ mobilization, development, and the antiproliferative effect of opioids.

Brain research | 1996-10-21 | PMID 8930364

Gurwell J A, Duncan M J, Maderspach K and 3 more

Signaling by ectopically expressed Drosophila Src64 requires the protein-tyrosine phosphatase corkscrew and the adapter downstream of receptor kinases.

Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research | 1996-11-01 | PMID 8930392

Cooper J A, Simon M A, Kussick S J

Genetic polymorphisms and erythrocyte sodium-lithium countertransport in essential hypertension.

Clinica chimica acta; international journal of clinical chemistry | 1996-11-15 | PMID 8930412

Tournoy K G, Delanghe J R, Duprez D A and 5 more

Genes: ACE

Risk of hepatobiliary disease in adults with severe alpha 1-antitrypsin deficiency (PiZZ): is chronic viral hepatitis B or C an additional risk factor for cirrhosis and hepatocellular carcinoma?

European journal of gastroenterology & hepatology | 1996-10-01 | PMID 8930564

Elzouki A N, Eriksson S

Immunocytochemical localization of myotonin protein kinase on muscle from patients with congenital myotonic dystrophy.

Histology and histopathology | 1996-10-01 | PMID 8930628

Tachi N, Kozuka N, Ohya K and 2 more

Limited antitumor T cell response in melanoma patients vaccinated with interleukin-2 gene-transduced allogeneic melanoma cells.

Human gene therapy | 1996-10-20 | PMID 8930655

Arienti F, Sulé-Suso J, Belli F and 7 more

Application of capillary gel electrophoresis to the diagnosis of the aldehyde dehydrogenase 2 genotype.

Journal of chromatography. B, Biomedical applications | 1996-10-11 | PMID 8930769

Tomita M, Okuyama T, Hidaka K and 3 more

Florid oral manifestations in an atypical familial adenomatous polyposis family with late presentation of colorectal polyps.

Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology | 1996-09-01 | PMID 8930826

Thakker N S, Evans D G, Horner K and 5 more

Genes: FAP, APC

Cdc28 tyrosine phosphorylation and the morphogenesis checkpoint in budding yeast.

Molecular biology of the cell | 1996-11-01 | PMID 8930890

Sia R A, Herald H A, Lew D J

The effects of clathrin inactivation on localization of Kex2 protease are independent of the TGN localization signal in the cytosolic tail of Kex2p.

Molecular biology of the cell | 1996-11-01 | PMID 8930891

Redding K, Seeger M, Payne G S and 1 more

A glutathione reductase mutant of yeast accumulates high levels of oxidized glutathione and requires thioredoxin for growth.

Molecular biology of the cell | 1996-11-01 | PMID 8930901

Muller E G

Nuclear transport defects and nuclear envelope alterations are associated with mutation of the Saccharomyces cerevisiae NPL4 gene.

Molecular biology of the cell | 1996-11-01 | PMID 8930904

DeHoratius C, Silver P A

FtsZ-spirals and -arcs determine the shape of the invaginating septa in some mutants of Escherichia coli.

Molecular microbiology | 1996-10-01 | PMID 8930908

Addinall S G, Lutkenhaus J

Co-ordination between membrane oriC sequestration factors and a chromosome partitioning protein, TolC (MukA).

Molecular microbiology | 1996-10-01 | PMID 8930912

Bahloul A, Meury J, Kern R and 3 more

The NodA proteins of Rhizobium meliloti and Rhizobium tropici specify the N-acylation of Nod factors by different fatty acids.

Molecular microbiology | 1996-10-01 | PMID 8930915

Debellé F, Plazanet C, Roche P and 5 more

Disruption of the gene encoding penicillin-binding protein 2b (pbp2b) causes altered cell morphology and cease in exopolysaccharide production in Streptococcus thermophilus Sfi6.

Molecular microbiology | 1996-10-01 | PMID 8930919

Stingele F, Mollet B

The N-terminal beta-barrel domain of the Escherichia coli K88 periplasmic chaperone FaeE determines fimbrial subunit recognition and dimerization.

Molecular microbiology | 1996-10-01 | PMID 8930921

Mol O, Oudhuis W C, Fokkema H and 1 more

Clozapine response and the 5HT2C Cys23Ser polymorphism.

Neuroreport | 1996-09-02 | PMID 8930967

Malhotra A K, Goldman D, Ozaki N and 5 more

Association between a PS-1 intronic polymorphism and late onset Alzheimer's disease.

Neuroreport | 1996-09-02 | PMID 8930979

Kehoe P, Williams J, Holmans P and 7 more

Proposal for new catalytic roles for two invariant residues in Escherichia coli ribonuclease HI.

Protein engineering | 1996-10-01 | PMID 8931125

Kashiwagi T, Jeanteur D, Haruki M and 3 more

Symbiotic nitrogen fixation does not require adenylylation of glutamine synthetase I in Rhizobium meliloti.

FEMS microbiology letters | 1996-11-15 | PMID 8931324

Arcondéguy T, Huez I, Fourment J and 1 more

Impaired oxidative stress resistance of Bacillus subtilis sigB mutants and the role of katA and katE.

FEMS microbiology letters | 1996-11-15 | PMID 8931328

Engelmann S, Hecker M

The Escherichia coli modE gene: effect of modE mutations on molybdate dependent modA expression.

FEMS microbiology letters | 1996-11-15 | PMID 8931336

McNicholas P M, Chiang R C, Gunsalus R P

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

Brain : a journal of neurology | 1996-10-01 | PMID 8931574

Dürr A, Davoine C S, Paternotte C and 13 more

p53 tumor suppressor gene status and the degree of genomic instability in sporadic colorectal cancers.

Journal of the National Cancer Institute | 1996-11-20 | PMID 8931611

Kahlenberg M S, Stoler D L, Basik M and 3 more

Chromosome 8 allelic loss and the outcome of patients with squamous cell carcinoma of the supraglottic larynx.

Journal of the National Cancer Institute | 1996-11-20 | PMID 8931613

Scholnick S B, Haughey B H, Sunwoo J B and 4 more

Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene.

Human genetics | 1996-12-01 | PMID 8931692

Matsumura R, Takayanagi T, Murata K and 3 more

Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.

Human genetics | 1996-12-01 | PMID 8931693

Riva P, Castorina P, Manoukian S and 5 more

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.

Human genetics | 1996-12-01 | PMID 8931695

Rossi A, van der Harten H J, Beemer F A and 4 more

Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency.

Human genetics | 1996-12-01 | PMID 8931696

Carrera P, Bordone L, Azzani T and 4 more

The apolipoprotein B Q3405E polymorphism has no effect on its low-density-lipoprotein receptor binding affinity.

Human genetics | 1996-12-01 | PMID 8931699

Pullinger C R, Love J A, Liu W and 5 more

Detection of a new polymorphism in the plasma-membrane Ca2+ ATPase isoform-3 gene and its exclusion as a candidate for X-linked myotubular myopathy (MTM1).

Human genetics | 1996-12-01 | PMID 8931700

Smolenicka Z, Guerini D, Carafoli E and 2 more

Genes: MTM1

Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.

Human genetics | 1996-12-01 | PMID 8931701

Greer W L, Shehabeldin A, Schulman J and 2 more

Molecular studies in three patients with isodicentric Y chromosome.

Human genetics | 1996-12-01 | PMID 8931702

Stuppia L, Calabrese G, Franchi P G and 4 more

Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism.

Human genetics | 1996-12-01 | PMID 8931705

Raskin S, Cogan J D, Summar M L and 3 more

Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.

Human genetics | 1996-12-01 | PMID 8931706

Pannicke U, Tuchschmid P, Friedrich W and 2 more

Genes: PNP

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.

Human genetics | 1996-12-01 | PMID 8931707

Trask B J, Mefford H, van den Engh G and 11 more

Genes: SMS

Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.

Human genetics | 1996-12-01 | PMID 8931709

van der Luijt R B, Meera Khan P, Vasen H F and 4 more

Genes: APC, FAP

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285.

Human genetics | 1996-12-01 | PMID 8931712

Xu S Y, Denton M, Sullivan L and 2 more

Association between the PI*M3 allele of alpha 1-antitrypsin and Alzheimer's disease? A preliminary report.

Human genetics | 1996-12-01 | PMID 8931713

Kowalska A, Danker-Hopfe H, Wender M and 2 more

Antibiotic GE37468A: a new inhibitor of bacterial protein synthesis. III. Strain and fermentation study.

The Journal of antibiotics | 1996-09-01 | PMID 8931721

Marinelli F, Gastaldo L, Toppo G and 1 more

An insertion/deletion polymorphism in the angiotensin converting enzyme gene is associated with both brain substance P contents and affective disorders.

Biological psychiatry | 1996-12-01 | PMID 8931914

Arinami T, Li L, Mitsushio H and 3 more

Genes: ACE

Analysis of c-kit gene integrity in aplastic anemia.

Blood cells, molecules & diseases | 1996-01-01 | PMID 8931956

Paquette R L, Hsu N C, Koeffler H P

Mutation analysis in hereditary hemochromatosis.

Blood cells, molecules & diseases | 1996-01-01 | PMID 8931958

Beutler E, Gelbart T, West C and 12 more

Allele-specific hybridization of lipoprotein lipase and factor-V Leiden missense mutations with direct label alkaline phosphatase-conjugated oligonucleotide probes.

Genetic analysis : biomolecular engineering | 1996-09-01 | PMID 8931992

Vary C P, Carmody M, LeBlanc R and 3 more

Genes: LPL

HLA allele selection for designing peptide vaccines.

Genetic analysis : biomolecular engineering | 1996-09-01 | PMID 8931995

Gulukota K, DeLisi C

Selective T cell receptor Vbeta gene usage by alloreactive T cells responding to defined HLA-DR alleles.

Transplantation | 1996-11-15 | PMID 8932281

Lobashevsky A, Kotb M, Gaber A O

Molecular cloning and characterization of nlpH, encoding a novel, surface-exposed, polymorphic, plasmid-encoded 33-kilodalton lipoprotein of Borrelia afzelii.

Journal of bacteriology | 1996-11-01 | PMID 8932298

Theisen M

Analysis of the peptidoglycan structure of Bacillus subtilis endospores.

Journal of bacteriology | 1996-11-01 | PMID 8932300

Popham D L, Helin J, Costello C E and 1 more

A bifunctional urease enhances survival of pathogenic Yersinia enterocolitica and Morganella morganii at low pH.

Journal of bacteriology | 1996-11-01 | PMID 8932305

Young G M, Amid D, Miller V L

Biosynthesis of diaminopimelate, the precursor of lysine and a component of peptidoglycan, is an essential function of Mycobacterium smegmatis.

Journal of bacteriology | 1996-11-01 | PMID 8932306

Pavelka M S, Jacobs W R

Genes: DAP

A temperature-sensitive trpS mutation interferes with trp RNA-binding attenuation protein (TRAP) regulation of trp gene expression in Bacillus subtilis.

Journal of bacteriology | 1996-11-01 | PMID 8932308

Lee A I, Sarsero J P, Yanofsky C

Characterization of EspC, a 110-kilodalton protein secreted by enteropathogenic Escherichia coli which is homologous to members of the immunoglobulin A protease-like family of secreted proteins.

Journal of bacteriology | 1996-11-01 | PMID 8932311

Stein M, Kenny B, Stein M A and 1 more

BfpB, an outer membrane lipoprotein required for the biogenesis of bundle-forming pili in enteropathogenic Escherichia coli.

Journal of bacteriology | 1996-11-01 | PMID 8932312

Ramer S W, Bieber D, Schoolnik G K

General and oxidative stress responses in Bacillus subtilis: cloning, expression, and mutation of the alkyl hydroperoxide reductase operon.

Journal of bacteriology | 1996-11-01 | PMID 8932314

Antelmann H, Engelmann S, Schmid R and 1 more

Mutation of the Bacillus subtilis alkyl hydroperoxide reductase (ahpCF) operon reveals compensatory interactions among hydrogen peroxide stress genes.

Journal of bacteriology | 1996-11-01 | PMID 8932315

Bsat N, Chen L, Helmann J D

A substitution at His-120 in the LasA protease of Pseudomonas aeruginosa blocks enzymatic activity without affecting propeptide processing or extracellular secretion.

Journal of bacteriology | 1996-11-01 | PMID 8932318

Gustin J K, Kessler E, Ohman D E

The Myxococcus xanthus developmentally expressed asgB-dependent genes can be targets of the A signal-generating or A signal-responding pathway.

Journal of bacteriology | 1996-11-01 | PMID 8932321

Bowden M G, Kaplan H B

flaD (sinR) mutations affect SigD-dependent functions at multiple points in Bacillus subtilis.

Journal of bacteriology | 1996-11-01 | PMID 8932324

Rashid M H, Sekiguchi J

Allele loss occurs frequently at hMLH1, but rarely at hMSH2, in sporadic colorectal cancers with microsatellite instability.

British journal of cancer | 1996-11-01 | PMID 8932328

Tomlinson I P, Ilyas M, Bodmer W F

High levels of MDM2 are not correlated with the presence of wild-type p53 in human malignant mesothelioma cell lines.

British journal of cancer | 1996-11-01 | PMID 8932331

Ungar S, Van de Meeren A, Tammilehto L and 3 more

Genes: MDM2

Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ.

British journal of cancer | 1996-11-01 | PMID 8932338

Munn K E, Walker R A, Menasce L and 1 more

Allele loss from large regions of chromosome 17 is common only in certain histological subtypes of ovarian carcinomas.

British journal of cancer | 1996-11-01 | PMID 8932340

Papp J, Csokay B, Bosze P and 4 more

Genes: BRCA1

Fibronectin promotes the proliferation of cytotoxic T lymphocytes generated from cancer patients.

British journal of cancer | 1996-11-01 | PMID 8932341

Mizobata S, Tanimura H, Yamaue H and 7 more

Allelic loss at chromosome 13q12-q13 is associated with poor prognosis in familial and sporadic breast cancer.

British journal of cancer | 1996-11-01 | PMID 8932343

van den Berg J, Johannsson O, Håkansson S and 2 more

Genes: BRCA2

An increased NM23H1 copy number may be a poor prognostic factor independent of LOH on 1p in neuroblastomas.

British journal of cancer | 1996-11-01 | PMID 8932344

Takeda O, Handa M, Uehara T and 6 more

Genes: EFS, MYCN

Drosophila ribosomal protein PO contains apurinic/apyrimidinic endonuclease activity.

Nucleic acids research | 1996-11-01 | PMID 8932386

Yacoub A, Kelley M R, Deutsch W A

Expression of myosin heavy chain transcripts in normal and cardiac mutant Mexican axolotls.

Biochemistry and molecular biology international | 1996-02-01 | PMID 8932525

Ward S M, Spinner B J, Dube A and 4 more

Cloning of cDNA for asparagine synthetase from rat Sertoli cell.

Biochemistry and molecular biology international | 1996-02-01 | PMID 8932534

Hongo S, Chiyo T, Takeda M

Immunogenetic profile of psoriasis vulgaris: association with haplotypes A2,B13,Cw6,DR7,DQA1*0201 and A1,B17,Cw6,DR7,DQA1*0201.

Archives of dermatological research | 1996-02-01 | PMID 8932582

Ikaheimo I, Silvennoinen-Kassinen S, Karvonen J and 2 more

Catabolite repression and inducer control in Gram-positive bacteria.

Microbiology (Reading, England) | 1996-02-01 | PMID 8932696

Saier Milton H, Chauvaux Sylvie, Cook Gregory M and 4 more

Genes: PTS

Metabolism of methanesulfonic acid involves a multicomponent monooxygenase enzyme.

Microbiology (Reading, England) | 1996-02-01 | PMID 8932698

Higgins Timothy P, Davey Margaret, Trickett Jim and 2 more

The defective phosphoribosyl diphosphate synthase in a temperature-sensitive prs-2 mutant of Escherichia coli is compensated by increased enzyme synthesis.

Microbiology (Reading, England) | 1996-02-01 | PMID 8932709

Post David A, Switzer Robert L, Hove-Jensen Bjarne

Two chitin synthase genes from Ustilago maydis.

Microbiology (Reading, England) | 1996-02-01 | PMID 8932711

Xoconostle-Cázares Beatriz, León-Ramirez Claudia, Ruiz-Herrera José

Differentiation of human Capnocytophaga species by multilocus enzyme electrophoretic analysis and serotyping of immunoglobulin A1 proteases.

Microbiology (Reading, England) | 1996-02-01 | PMID 8932716

Frandsen Ellen V G, Wade William G