Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families.
Biochimica et biophysica acta | 1996-05-24 | PMID 8634338
Cenarro A, Jensen H K, Casao E and 4 more
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
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Publications
Page 697 of 10600
Interferon treatment for chronic hepatitis C infection in hemophiliacs--influence of virus load, genotype, and liver pathology on response.
Blood | 1996-03-01 | PMID 8634415
Hanley J P, Jarvis L M, Andrew J and 6 more
Deficiency of the Hck and Src tyrosine kinases results in extreme levels of extramedullary hematopoiesis.
Blood | 1996-03-01 | PMID 8634424
Lowell C A, Niwa M, Soriano P and 1 more
Immunoglobulin heavy chain variable region gene usage in bone marrow transplant recipients: lack of somatic mutation indicates a maturational arrest.
Blood | 1996-03-01 | PMID 8634435
Suzuki I, Milner E C, Glas A M and 4 more
Expression of A-myb, but not c-myb and B-myb, is restricted to Burkitt's lymphoma, sIg+ B-acute lymphoblastic leukemia, and a subset of chronic lymphocytic leukemias.
Blood | 1996-03-01 | PMID 8634438
Golay J, Luppi M, Songia S and 10 more
Phenotypic expression of Pseudomonas syringae avr genes in E. coli is linked to the activities of the hrp-encoded secretion system.
Molecular plant-microbe interactions : MPMI | 1996-05-01 | PMID 8634477
Pirhonen M U, Lidell M C, Rowley D L and 6 more
Cutaneous melanoma in women: anatomic distribution in relation to sun exposure and phenotype.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 1995-12-01 | PMID 8634653
Cress R D, Holly E A, Ahn D K and 2 more
Glutathione S-transferase M1 genotype affects aminobiphenyl-hemoglobin adduct levels in white, black and Asian smokers and nonsmokers.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 1995-12-01 | PMID 8634658
Yu M C, Ross R K, Chan K K and 4 more
Genes: GSTM1
Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.
Human molecular genetics | 1995-12-01 | PMID 8634688
Eichler E E, Hammond H A, Macpherson J N and 2 more
Genes: FMR1
Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism for the generation of allelic variants of human cytochrome P450 CYP2D6 gene.
Human molecular genetics | 1995-12-01 | PMID 8634695
Steen V M, Molven A, Aarskog N K and 1 more
Murine Brca1: sequence and significance for human missense mutations.
Human molecular genetics | 1995-12-01 | PMID 8634698
Sharan S K, Wims M, Bradley A
Genes: BRCA1
Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci.
Human molecular genetics | 1995-12-01 | PMID 8634700
Kawame H, Gartler S M, Hansen R S
Genes: SNRPN, IGF2
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
Human molecular genetics | 1995-12-01 | PMID 8634705
Schiaffino M V, Bassi M T, Galli L and 7 more
Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).
Human molecular genetics | 1995-12-01 | PMID 8634709
Dry K L, Aldred M A, Edgar A J and 7 more
Genes: EXT1
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.
Human molecular genetics | 1995-12-01 | PMID 8634711
Cruts M, Backhovens H, Wang S Y and 7 more
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
Human molecular genetics | 1995-12-01 | PMID 8634712
Campion D, Flaman J M, Brice A and 7 more
A biologically consistent model for comparing molecular phylogenies.
Journal of computational biology : a journal of computational molecular cell biology | 1995-01-01 | PMID 8634901
Mirkin B, Muchnik I, Smith T F
Functional analysis of an intron 3' splice site in Caenorhabditis elegans.
RNA (New York, N.Y.) | 1996-04-01 | PMID 8634918
Zhang H, Blumenthal T
Sensitivity of fungi to nikkomycin Z.
Fungal genetics and biology : FG & B | 1996-03-01 | PMID 8634944
Tariq V N, Devlin P L
The Phytophthora sojae genome contains tandem repeat sequences which vary from strain to strain.
Fungal genetics and biology : FG & B | 1996-03-01 | PMID 8634945
Mao Y, Tyler B M
Legal and ethical issues in genetic testing and counseling for susceptibility to breast, ovarian and colon cancer.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne | 1996-03-15 | PMID 8634959
Dickens B M, Pei N, Taylor K M
Canadian patient played key role in uncovering secrets about early-onset Alzheimer's disease.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne | 1996-03-15 | PMID 8634971
Lyttle J
Frequent expression of P-glycoprotein/MDR1 by nasal T-cell lymphoma cells.
Cancer | 1995-12-01 | PMID 8635042
Yamaguchi M, Kita K, Miwa H and 5 more
Detection of human papillomavirus DNA sequences in oral squamous cell carcinomas and their relation to p53 and proliferating cell nuclear antigen expression.
Cancer | 1995-11-01 | PMID 8635051
Shindoh M, Chiba I, Yasuda M and 6 more
Genes: PCNA
High prevalence of human papillomavirus in squamous cell carcinoma and matched normal esophageal mucosa: assessment by polymerase chain reaction.
Cancer | 1995-11-01 | PMID 8635052
Fidalgo P O, Cravo M L, Chaves P P and 2 more
The genetic attributable risk of breast and ovarian cancer.
Cancer | 1996-06-01 | PMID 8635102
Claus E B, Schildkraut J M, Thompson W D and 1 more
Coexistence of renal cell carcinoma and malignant lymphoma. A causal relationship or coincidental occurrence?
Cancer | 1996-06-01 | PMID 8635103
Tihan T, Filippa D A
Radiation therapy tolerance limits. For one or for all?--Janeway Lecture.
Cancer | 1996-06-01 | PMID 8635110
Peters L J
Low frequency of p53 gene mutation and protein expression in mucinous colorectal carcinomas.
Cancer letters | 1996-06-05 | PMID 8635153
Hanski C, Tiecke F, Hummel M and 6 more
Ability of paralyzed flagella mutants of Chlamydomonas to move.
Cell motility and the cytoskeleton | 1996-01-01 | PMID 8635205
Omoto C K, Yagi T, Kurimoto E and 1 more
Electron microscopic evidence of impaired intramembrane particles and instability of the cytoskeletal network in band 4.2 deficiency in human red cells.
Cell motility and the cytoskeleton | 1996-01-01 | PMID 8635206
Yawata Y, Yawata A, Kanzaki A and 5 more
Genes: TAT
Differential response to Na+ channel blockade, beta-adrenergic stimulation, and rapid pacing in a cellular model mimicking the SCN5A and HERG defects present in the long-QT syndrome.
Circulation research | 1996-06-01 | PMID 8635231
Priori S G, Napolitano C, Cantù F and 2 more
Missense mutation in the pore region of HERG causes familial long QT syndrome.
Circulation | 1996-05-15 | PMID 8635257
Benson D W, MacRae C A, Vesely M R and 4 more
The role of induction (neoadjuvant) chemotherapy in stage IIIA NSCLC.
Chest | 1996-05-01 | PMID 8635384
Rosell R, Font A, Pifarré A and 4 more
The Mas20p and Mas70p subunits of the protein import receptor of yeast mitochondria interact via the tetratricopeptide repeat motif in Mas20p: evidence for a single hetero-oligomeric receptor.
The EMBO journal | 1996-03-15 | PMID 8635455
Haucke V, Horst M, Schatz G and 1 more
Lack of Drosophila cytoskeletal tropomyosin affects head morphogenesis and the accumulation of oskar mRNA required for germ cell formation.
The EMBO journal | 1996-03-15 | PMID 8635457
Tetzlaff M T, Jäckle H, Pankratz M J
Prion protein (PrP) with amino-proximal deletions restoring susceptibility of PrP knockout mice to scrapie.
The EMBO journal | 1996-03-15 | PMID 8635458
Fischer M, Rülicke T, Raeber A and 6 more
Expression in brain of amyloid precursor protein mutated in the alpha-secretase site causes disturbed behavior, neuronal degeneration and premature death in transgenic mice.
The EMBO journal | 1996-03-15 | PMID 8635459
Moechars D, Lorent K, De Strooper B and 2 more
Genes: APP
Low level expression of glycine receptor beta subunit transgene is sufficient for phenotype correction in spastic mice.
The EMBO journal | 1996-03-15 | PMID 8635460
Hartenstein B, Schenkel J, Kuhse J and 5 more
Functional rescue of mutant V2 vasopressin receptors causing nephrogenic diabetes insipidus by a co-expressed receptor polypeptide.
The EMBO journal | 1996-03-15 | PMID 8635461
Schoneberg T, Yun J, Wenkert D and 1 more
The response regulator RssB controls stability of the sigma(S) subunit of RNA polymerase in Escherichia coli.
The EMBO journal | 1996-03-15 | PMID 8635466
Muffler A, Fischer D, Altuvia S and 2 more
Cytoplasmic retention and nuclear import of 5S ribosomal RNA containing RNPs.
The EMBO journal | 1996-03-15 | PMID 8635471
Rudt F, Pieler T
Defining the enzyme binding domain of a ribonuclease III processing signal. Ethylation interference and hydroxyl radical footprinting using catalytically inactive RNase III mutants.
The EMBO journal | 1996-03-15 | PMID 8635475
Li H, Nicholson A W
Exact size and organization of DNA target-recognizing domains of multispecific DNA-(cytosine-C5)-methyltransferases.
The EMBO journal | 1996-03-15 | PMID 8635476
Trautner T A, Pawlek B, Behrens B and 1 more
Identification of ORD, a Drosophila protein essential for sister chromatid cohesion.
The EMBO journal | 1996-03-15 | PMID 8635478
Bickel S E, Wyman D W, Miyazaki W Y and 2 more
A human transforming growth factor-beta type II receptor that contains an insertion in the extracellular domain.
Experimental cell research | 1996-02-25 | PMID 8635485
Hirai R, Fijita T
Retardation of phenotypic transition of rabbit arterial smooth muscle cells in three-dimensional primary culture.
Experimental cell research | 1996-05-25 | PMID 8635504
Yamamoto M, Nakamura H, Yamato M and 2 more
Dominant negative mutant of retinoic acid receptor alpha inhibits retinoic acid-induced P19 cell differentiation by binding to DNA.
Experimental cell research | 1996-05-25 | PMID 8635515
Costa S L, McBurney M W
Selective hippocampal lesions differentially affect the phenotypic fate of transplanted neuronal precursor cells.
Experimental neurology | 1996-05-01 | PMID 8635569
Shihabuddin L S, Holets V R, Whittemore S R
Genes: GFAP
Cerebrovascular amyloidosis in squirrel monkeys and rhesus monkeys: apolipoprotein E genotype.
FEBS letters | 1996-01-29 | PMID 8635577
Morelli L, Wei L, Amorim A and 5 more
Site-directed mutants designed to test back-door hypotheses of acetylcholinesterase function.
FEBS letters | 1996-05-13 | PMID 8635606
Faerman C, Ripoll D, Bon S and 5 more
Determination of binding site of anti-tumour necrosis factor-alpha monoclonal antibody using hybrid and mutant proteins.
FEBS letters | 1996-05-13 | PMID 8635607
Shingarova L N, Sagaidak L N, Berkova N and 1 more
Genes: TNF
Expression of a specific subset of CD44 variant transcripts in NOD pancreatic islets.
Diabetes | 1996-06-01 | PMID 8635643
Milde K F, Alonso M, Kong S S and 3 more
Genetic absence of gamma-interferon delays but does not prevent diabetes in NOD mice.
Diabetes | 1996-06-01 | PMID 8635658
Hultgren B, Huang X, Dybdal N and 1 more
Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians.
Diabetes | 1996-06-01 | PMID 8635661
Inoue H, Ferrer J, Welling C M and 11 more
Positive selection vectors for allelic exchange.
Gene | 1996-02-22 | PMID 8635748
Skorupski K, Taylor R K
Study of three AMPFLPs (D1S80, 3'ApoB and YNZ22) in the population of the north of Portugal.
Forensic science international | 1996-05-17 | PMID 8635770
Pinheiro M F, Pontes M L, Huguet E and 3 more
Validation of a frequency database for four STR loci for use in casework in the Strathclyde Police Forensic Science Laboratory.
Forensic science international | 1996-05-17 | PMID 8635772
Lee L D, Fairley M, Lambert J A and 1 more
N-acetyltransferase activity in the urine in Japanese subjects: comparison in healthy persons and bladder cancer patients.
Japanese journal of cancer research : Gann | 1995-12-01 | PMID 8636007
Ishizu S, Hashida C, Hanaoka T and 2 more
NADP+ -dependent malic enzyme of Rhizobium meliloti.
Journal of bacteriology | 1996-04-01 | PMID 8636022
Driscoll B T, Finan T M
Production of actinorhodin-related "blue pigments" by Streptomyces coelicolor A3(2).
Journal of bacteriology | 1996-04-01 | PMID 8636024
Bystrykh L V, Fernández-Moreno M A, Herrema J K and 3 more
Characterization of transmembrane domains 6, 7, and 8 of MalF by mutational analysis.
Journal of bacteriology | 1996-04-01 | PMID 8636026
Ehrle R, Pick C, Ulrich R and 2 more
Properties of a Bacillus subtilis polynucleotide phosphorylase deletion strain.
Journal of bacteriology | 1996-04-01 | PMID 8636041
Wang W, Bechhofer D H
Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1.
The Journal of biological chemistry | 1996-03-22 | PMID 8636066
Zhao X, Siu C H
Stimulation of luteinizing hormone beta gene promoter activity by the orphan nuclear receptor, steroidogenic factor-1.
The Journal of biological chemistry | 1996-03-22 | PMID 8636081
Halvorson L M, Kaiser U B, Chin W W
Functional lecithin:cholesterol acyltransferase deficiency and high density lipoprotein deficiency in transgenic mice overexpressing human apolipoprotein A-II.
The Journal of biological chemistry | 1996-03-22 | PMID 8636092
Marzal-Casacuberta A, Blanco-Vaca F, Ishida B Y and 5 more
Genes: LCAT, SDS
Murine laminin B1 gene regulation during the retinoic acid- and dibutyryl cyclic AMP-induced differentiation of embryonic F9 teratocarcinoma stem cells.
The Journal of biological chemistry | 1996-03-22 | PMID 8636104
Li C, Gudas L J
Genes: LAMB1
UDP-glucose deficiency in a mutant cell line protects against glucosyltransferase toxins from Clostridium difficile and Clostridium sordellii.
The Journal of biological chemistry | 1996-03-22 | PMID 8636120
Chaves-Olarte E, Florin I, Boquet P and 3 more
Accelerated evolution in inhibitor domains of porcine elafin family members.
The Journal of biological chemistry | 1996-03-22 | PMID 8636131
Tamechika I, Itakura M, Saruta Y and 4 more
Mutants of eukaryotic initiation factor eIF-4E with altered mRNA cap binding specificity reprogram mRNA selection by ribosomes in Saccharomyces cerevisiae.
The Journal of biological chemistry | 1996-03-22 | PMID 8636134
Vasilescu S, Ptushkina M, Linz B and 2 more
Peb1p (Pas7p) is an intraperoxisomal receptor for the NH2-terminal, type 2, peroxisomal targeting sequence of thiolase: Peb1p itself is targeted to peroxisomes by an NH2-terminal peptide.
The Journal of cell biology | 1996-02-01 | PMID 8636211
Zhang J W, Lazarow P B
Genes: PTS
Removal of MAP4 from microtubules in vivo produces no observable phenotype at the cellular level.
The Journal of cell biology | 1996-02-01 | PMID 8636213
Wang X M, Peloquin J G, Zhai Y and 2 more
Genes: MAP4
Identification of a developmentally regulated septin and involvement of the septins in spore formation in Saccharomyces cerevisiae.
The Journal of cell biology | 1996-02-01 | PMID 8636217
Fares H, Goetsch L, Pringle J R
An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism.
The Journal of cell biology | 1996-05-01 | PMID 8636228
Kim P S, Kwon O Y, Arvan P
Vps10p cycles between the late-Golgi and prevacuolar compartments in its function as the sorting receptor for multiple yeast vacuolar hydrolases.
The Journal of cell biology | 1996-05-01 | PMID 8636229
Cooper A A, Stevens T H
Insulin-like growth factor binding protein-5 modulates muscle differentiation through an insulin-like growth factor-dependent mechanism.
The Journal of cell biology | 1996-05-01 | PMID 8636241
James P L, Stewart C E, Rotwein P
Examination of the phosphoenolpyruvate carboxykinase gene promoter in patients with noninsulin-dependent diabetes mellitus.
The Journal of clinical endocrinology and metabolism | 1996-02-01 | PMID 8636258
Ludwig D S, Vidal-Puig A, O'Brien R M and 4 more
New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
The Journal of clinical endocrinology and metabolism | 1996-02-01 | PMID 8636263
Yanase T, Takayanagi R, Oba K and 3 more
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.
The Journal of clinical endocrinology and metabolism | 1996-02-01 | PMID 8636266
Tonacchera M, Van Sande J, Cetani F and 7 more
Gene screening of thyroxine-binding globulin (TBG) deficiencies in the Japanese: only two mutations account for TBG deficiencies in the Japanese.
The Journal of clinical endocrinology and metabolism | 1996-02-01 | PMID 8636271
Inagaki A, Miura Y, Mori Y and 3 more
Lack of an independent association between the human leukocyte antigen allele DQA1*0501 and Graves' disease.
The Journal of clinical endocrinology and metabolism | 1996-02-01 | PMID 8636314
Cuddihy R M, Bahn R S
Novel mutations in the estrogen receptor messenger RNA in human breast cancers.
The Journal of clinical endocrinology and metabolism | 1996-04-01 | PMID 8636345
Murphy L C, Wang M, Coutt A and 1 more
Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I.
The Journal of clinical endocrinology and metabolism | 1996-04-01 | PMID 8636356
Tuomi T, Björses P, Falorni A and 4 more
Altered insulin receptor messenger ribonucleic acid splicing in liver is associated with deterioration of glucose tolerance in the spontaneously obese and diabetic rhesus monkey: analysis of controversy between monkey and human studies.
The Journal of clinical endocrinology and metabolism | 1996-04-01 | PMID 8636366
Huang Z, Bodkin N L, Ortmeyer H K and 4 more
Imprinting and expression of insulin-like growth factor-II and H19 in normal breast tissue and breast tumor.
The Journal of clinical endocrinology and metabolism | 1996-04-01 | PMID 8636375
Yballe C M, Vu T H, Hoffman A R
Genes: IGF2
The double edged sword of the immune response: mutational analysis of a murine anti-pneumococcal, anti-DNA antibody.
The Journal of clinical investigation | 1996-05-15 | PMID 8636404
Putterman C, Limpanasithikul W, Edelman M and 1 more
A defective Vkappa A2 allele in Navajos which may play a role in increased susceptibility to haemophilus influenzae type b disease.
The Journal of clinical investigation | 1996-05-15 | PMID 8636407
Feeney A J, Atkinson M J, Cowan M J and 2 more
Role of the intercellular adhesion molecule-1(ICAM-1) in endotoxin-induced pneumonia evaluated using ICAM-1 antisense oligonucleotides, anti-ICAM-1 monoclonal antibodies, and ICAM-1 mutant mice.
The Journal of clinical investigation | 1996-05-15 | PMID 8636417
Kumasaka T, Quinlan W M, Doyle N A and 6 more
A somatically mutated human antiganglioside IgM antibody that induces experimental neuropathy in mice is encoded by the variable region heavy chain gene, V1-18.
The Journal of clinical investigation | 1996-03-01 | PMID 8636426
Willison H J, O'Hanlon G M, Paterson G and 5 more
A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.
The Journal of clinical investigation | 1996-03-01 | PMID 8636437
Medeiros-Neto G, Herodotou D T, Rajan S and 7 more
A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats.
The Journal of clinical investigation | 1996-03-01 | PMID 8636438
Ginzinger D G, Lewis M E, Ma Y and 3 more
Genes: LPL
The pituitary V3 vasopressin receptor and the corticotroph phenotype in ectopic ACTH syndrome.
The Journal of clinical investigation | 1996-03-01 | PMID 8636444
de Keyzer Y, Lenne F, Auzan C and 7 more
Genes: POMC, CRH
Fc gamma RIIA alleles are heritable risk factors for lupus nephritis in African Americans.
The Journal of clinical investigation | 1996-03-01 | PMID 8636449
Salmon J E, Millard S, Schachter L A and 6 more
Existing variations on the gene structure of hepatitis E virus strains from some regions of China.
Journal of medical virology | 1995-12-01 | PMID 8636695
Huang R, Nakazono N, Ishii K and 3 more
Selection of a precore mutant after vertical transmission of different hepatitis B virus variants is correlated with fulminant hepatitis in infants.
Journal of medical virology | 1995-12-01 | PMID 8636700
Bahn A, Hilbert K, Martiné U and 3 more
Emergence of hepatitis B virus S gene mutant in a liver transplant recipient.
Journal of medical virology | 1995-12-01 | PMID 8636711
Cariani E, Ravaggi A, Tanzi E and 7 more
HCV infection in a rural population of the Central African Republic (CAR): evidence for three additional subtypes of genotype 4.
Journal of medical virology | 1995-12-01 | PMID 8636715
Fretz C, Jeannel D, Stuyver L and 6 more
Hepatitis B virus strains in Thailand: genomic variants in chronic carriers.
Journal of medical virology | 1995-12-01 | PMID 8636719
Kidd-Ljunggren K, Ekdahl K, Oberg M and 2 more
Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations.
The Journal of pediatrics | 1996-02-01 | PMID 8636821
Steiner R D, Sweetser D A, Rohrbaugh J R and 3 more
Type characterisation and antibiotic susceptibility of Burkholderia (Pseudomonas) cepacia isolates from patients with cystic fibrosis in the United Kingdom and the Republic of Ireland.
Journal of medical microbiology | 1996-03-01 | PMID 8636938
Pitt T L, Kaufmann M E, Patel P S and 3 more