A fragile gene.
BioEssays : news and reviews in molecular, cellular and developmental biology | 1995-11-01 | PMID 8526888
Oostra B A, Willems P J
Genes: FMR1
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 663 of 10600
A novel RNA splicing mutation in Japanese patients with Wilson disease.
Biochemical and biophysical research communications | 1995-12-05 | PMID 8526905
Shimizu N, Kawase C, Nakazono H and 3 more
The region 3' to the major transcriptional start site of the MDR1 downstream promoter mediates activation by a subset of mutant P53 proteins.
Biochemical and biophysical research communications | 1995-12-05 | PMID 8526930
Strauss B E, Haas M
Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis.
Biochemical and biophysical research communications | 1995-12-05 | PMID 8526937
Sano M, Inoue S, Hosoi T and 4 more
Requirement of ATP hydrolysis for assembly of ClpA/ClpP complex, the ATP-dependent protease Ti in Escherichia coli.
Biochemical and biophysical research communications | 1995-12-05 | PMID 8526938
Seol J H, Woo K M, Kang M S and 2 more
Lower prevalence and incidence of HIV-1 syncytium-inducing phenotype among injecting drug users compared with homosexual men.
AIDS (London, England) | 1995-09-01 | PMID 8527083
Spijkerman I J, Koot M, Prins M and 4 more
The hypobetalipoproteinemias.
Annual review of nutrition | 1995-01-01 | PMID 8527219
Schonfeld G
On the distribution of gamma cells in the cat retina.
Visual neuroscience | 2000-01-01 | PMID 8527370
Stein J J, Berson D M
TP53 mutations and breast cancer prognosis: particularly poor survival rates for cases with mutations in the zinc-binding domains.
Genes, chromosomes & cancer | 1995-09-01 | PMID 8527388
Børresen A L, Andersen T I, Eyfjörd J E and 7 more
Genetic analysis of chromosome 13 deletions in BCR/ABL negative chronic myeloproliferative disorders.
Genes, chromosomes & cancer | 1995-10-01 | PMID 8527391
Pastore C, Nomdedeu J, Volpe G and 7 more
Genes: BCR
No recurrent structural abnormalities apart from i(12p) in primary germ cell tumors of the adult testis.
Genes, chromosomes & cancer | 1995-10-01 | PMID 8527395
van Echten J, Oosterhuis J W, Looijenga L H and 6 more
Allelic loss in squamous cell carcinomas of the larynx: discordance between primary and metastatic tumors.
Genes, chromosomes & cancer | 1995-10-01 | PMID 8527396
Sun P C, el-Mofty S K, Haughey B H and 1 more
Reversion of malignant phenotype by 5-iodo-6-amino-1,2-benzopyrone a non-covalently binding ligand of poly(ADP-ribose) polymerase.
Biochimie | 1995-01-01 | PMID 8527492
Bauer P I, Kirsten E, Varadi G and 4 more
Transmission of zidovudine-resistant human immunodeficiency virus type 1 variants following deliberate injection of blood from a patient with AIDS: characteristics and natural history of the virus.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 1995-09-01 | PMID 8527543
Veenstra J, Schuurman R, Cornelissen M and 5 more
[Bronchiectasis and infection incidence in alpha 1-antitrypsin deficiency. The value of high-resolution computed tomography].
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin | 1995-11-01 | PMID 8527749
Kauczor H U, Hoffmann A, Mehdikhani H and 3 more
High incidence of a polymorphic variant of erythrocyte membrane protein, Band 3-Memphis, on a western Japanese island.
The Japanese journal of human genetics | 1995-09-01 | PMID 8527801
Izuhara K, Ideguchi H, Otsuka T and 4 more
Myelin mutants: new models and new observations.
Microscopy research and technique | 1995-10-15 | PMID 8527854
Lunn K F, Fanarraga M L, Duncan I D
Microsatellite instability in human cancer.
Oncology research | 1995-01-01 | PMID 8527861
Speicher M R
Fibroblast subpopulations as accelerators of tumor progression: the role of migration stimulating factor.
EXS | 1995-01-01 | PMID 8527899
Schor S L
Decreased mitochondrial biogenesis in temperature-sensitive cell division cycle mutants of Saccharomyces cerevisiae.
Current microbiology | 1995-12-01 | PMID 8528003
Genta H D, Mónaco M E, Aon M A
Alterations of the retinoblastoma a susceptibility gene in chronic lymphocytic leukemia.
Leukemia & lymphoma | 1995-08-01 | PMID 8528045
Neubauer A, Richiero K, Huhn D
A ligand-induced conformational change in the Yersinia protein tyrosine phosphatase.
Protein science : a publication of the Protein Society | 1995-09-01 | PMID 8528087
Schubert H L, Fauman E B, Stuckey J A and 2 more
The stromal cells' guide to the stem cell universe.
Stem cells (Dayton, Ohio) | 1995-09-01 | PMID 8528097
Müller-Sieburg C E, Deryugina E
Digital image analysis of chromatin fibre phenotype after "in situ" digestion with restriction endonucleases.
Cell biology international | 1995-10-01 | PMID 8528191
Gosálvez J, López-Fernández C, Fernández J L and 2 more
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
Human molecular genetics | 1995-07-01 | PMID 8528198
Kolluri R, Shehabeldin A, Peacocke M and 4 more
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Human molecular genetics | 1995-07-01 | PMID 8528199
Derry J M, Kerns J A, Weinberg K I and 5 more
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.
Human molecular genetics | 1995-07-01 | PMID 8528200
Takiyama Y, Igarashi S, Rogaeva E A and 7 more
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Human molecular genetics | 1995-07-01 | PMID 8528202
Kruger W D, Cox D R
Genes: CBS
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
Human molecular genetics | 1995-07-01 | PMID 8528203
Bueno M R, Moreira E S, Vainzof M and 7 more
Double mutant alleles: are they rare?
Human molecular genetics | 1995-07-01 | PMID 8528204
Savov A, Angelicheva D, Balassopoulou A and 3 more
Genes: CFTR
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.
Human molecular genetics | 1995-07-01 | PMID 8528206
Koiwai O, Nishizawa M, Hasada K and 4 more
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells.
Human molecular genetics | 1995-07-01 | PMID 8528208
Talbot C C, Avramopoulos D, Gerken S and 5 more
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
Human molecular genetics | 1995-07-01 | PMID 8528210
Knappskog P M, Flatmark T, Mallet J and 2 more
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Human molecular genetics | 1995-07-01 | PMID 8528214
Park W J, Meyers G A, Li X and 5 more
Genes: FGFR2
Ontogeny of membrane cofactor protein: phenotypic divergence in the fetal heart.
Lupus | 1995-08-01 | PMID 8528226
Gorelick A, Oglesby T, Rashbaum W and 2 more
Lung cancer and mutations at the polymorphic NAT2 gene locus.
Pharmacogenetics | 1995-08-01 | PMID 8528267
Martínez C, Agúndez J A, Olivera M and 3 more
Genes: NAT2
Detection of the poor metabolizer-associated CYP2D6(D) gene deletion allele by long-PCR technology.
Pharmacogenetics | 1995-08-01 | PMID 8528268
Steen V M, Andreassen O A, Daly A K and 4 more
Comparison of substrate metabolism by wild type CYP2D6 protein and a variant containing methionine, not valine, at position 374.
Pharmacogenetics | 1995-08-01 | PMID 8528270
Crespi C L, Steimel D T, Penman B W and 7 more
Mutations throughout an Arabidopsis blue-light photoreceptor impair blue-light-responsive anthocyanin accumulation and inhibition of hypocotyl elongation.
The Plant journal : for cell and molecular biology | 1995-11-01 | PMID 8528277
Ahmad M, Lin C, Cashmore A R
Genes: CRY1
Analysis of Arabidopsis mutants deficient in flavonoid biosynthesis.
The Plant journal : for cell and molecular biology | 1995-11-01 | PMID 8528278
Shirley B W, Kubasek W L, Storz G and 4 more
Identification of genes required for pollen-stigma recognition in Arabidopsis thaliana.
The Plant journal : for cell and molecular biology | 1995-11-01 | PMID 8528281
Hülskamp M, Kopczak S D, Horejsi T F and 2 more
A dinucleotide mutation in dihydrodipicolinate synthase of Nicotiana sylvestris leads to lysine overproduction.
The Plant journal : for cell and molecular biology | 1995-11-01 | PMID 8528284
Ghislain M, Frankard V, Jacobs M
Expression of a single-chain Fv antibody against abscisic acid creates a wilty phenotype in transgenic tobacco.
The Plant journal : for cell and molecular biology | 1995-11-01 | PMID 8528285
Artsaenko O, Peisker M, zur Nieden U and 4 more
Transplantation of cartilagenous tissue generated in vitro into articular joint defects.
Artificial cells, blood substitutes, and immobilization biotechnology | 1995-01-01 | PMID 8528450
Kandel R A, Chen H, Clark J and 1 more
Epithelial cell specific properties and genetic complementation in a delta F508 cystic fibrosis nasal polyp cell line.
In vitro cellular & developmental biology. Animal | 1995-09-01 | PMID 8528517
Kunzelmann K, Lei D C, Eng K and 3 more
Confirmation of the copy number of chromosome 1 in interphase nuclei from paraffin sections of breast tumours by fluorescence in situ hybridization.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology | 1995-11-01 | PMID 8528585
Loupart M L, Walker R, Brammar W and 1 more
Phenotypic variation of carbohydrate surface antigens and the pathogenesis of Haemophilus influenzae infections.
Trends in microbiology | 1995-08-01 | PMID 8528614
Roche R J, Moxon E R
Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.
European journal of human genetics : EJHG | 1995-01-01 | PMID 8528670
Bondeson M L, Malmgren H, Dahl N and 2 more
Genes: IDS
Linkage disequilibrium between the expanded (CAG)n repeat and an allele of the adjacent (CCG)n repeat in Huntington's disease patients of Greek origin.
European journal of human genetics : EJHG | 1995-01-01 | PMID 8528671
Yapijakis C, Vassilopoulos D, Tzagournisakis M and 4 more
A quality control study of CFTR mutation screening in 40 different European laboratories. The European Concerted Action on Cystic Fibrosis.
European journal of human genetics : EJHG | 1995-01-01 | PMID 8528672
Cuppens H, Cassiman J J
Genes: CFTR
Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations.
European journal of human genetics : EJHG | 1995-01-01 | PMID 8528673
Kuzmin A I, Eisensmith R C, Goltsov A A and 3 more
Genes: PAH
CD44: physiological expression of distinct isoforms as evidence for organ-specific metastasis formation.
Journal of molecular medicine (Berlin, Germany) | 1995-09-01 | PMID 8528746
Zöller M
Sustained cytokine production and immunophenotypic changes in human neuroblastoma cell lines transduced with a human gamma interferon vector.
Cancer gene therapy | 1995-09-01 | PMID 8528960
Uçar K, Seeger R C, Challita P M and 7 more
Suppression of lung cancer cell growth by ribozyme-mediated modification of p53 pre-mRNA.
Cancer gene therapy | 1995-09-01 | PMID 8528963
Cai D W, Mukhopadhyay T, Roth J A
Allozyme variation in populations of Pleurodema thaul (Lesson, 1826) (Anura; Leptodactylidae).
Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology | 1995-11-01 | PMID 8529025
Victoriano P, Ortiz J C, Troncoso L and 1 more
Genomic organization and sequence of the human NRAMP gene: identification and mapping of a promoter region polymorphism.
Molecular medicine (Cambridge, Mass.) | 1995-01-01 | PMID 8529098
Blackwell J M, Barton C H, White J K and 4 more
Cell type-dependent modulation of the dominant negative action of human mutant thyroid hormone beta 1 receptors.
Molecular medicine (Cambridge, Mass.) | 1995-03-01 | PMID 8529109
Wong R, Zhu X G, Pineda M A and 2 more
Burkitt's lymphoma is a malignancy of mature B cells expressing somatically mutated V region genes.
Molecular medicine (Cambridge, Mass.) | 1995-07-01 | PMID 8529116
Klein U, Klein G, Ehlin-Henriksson B and 2 more
Taxol-induced mitotic block triggers rapid onset of a p53-independent apoptotic pathway.
Molecular medicine (Cambridge, Mass.) | 1995-07-01 | PMID 8529117
Woods C M, Zhu J, McQueney P A and 2 more
Analysis of families at risk for insulin-dependent diabetes mellitus reveals that HLA antigens influence progression to clinical disease.
Molecular medicine (Cambridge, Mass.) | 1995-07-01 | PMID 8529124
Honeyman M C, Harrison L C, Drummond B and 2 more
HLA-A, B, C, DR and DQ expression and hepatocellular carcinoma: study of 205 Italian subjects.
Cancer letters | 1995-11-27 | PMID 8529200
Ricci G, Colombo C, Ghiazza B and 3 more
Non-homogeneous marking of distal colonic mucosa using Dolichos biflorus lectin.
Cancer letters | 1995-11-27 | PMID 8529203
Rosenberg D W
Characterization of peroxisome-deficient mutants of Hansenula polymorpha.
Current genetics | 1995-08-01 | PMID 8529271
Tan X, Titorenko V I, van der Klei I J and 7 more
Migration of the yeast linear DNA plasmid from the cytoplasm into the nucleus in Saccharomyces cerevisiae.
Current genetics | 1995-08-01 | PMID 8529275
Gunge N, Fukuda K, Takahashi S and 1 more
Polymorphism of the angiotensin converting enzyme gene and clinical aspects of IgA nephropathy.
Clinical nephrology | 1995-08-01 | PMID 8529313
Yorioka T, Suehiro T, Yasuoka N and 2 more
Genes: ACE
Insulin-like growth factor-I promotes cell proliferation in the absence of modulation of collagen phenotypes and utilizes IRS-1, not PLC-gamma 1, in corneal endothelial cells.
Current eye research | 1995-08-01 | PMID 8529402
Choi S H, Kay E P, Oh D S and 2 more
An improved method of isolating fetal human retinal pigment epithelium.
Current eye research | 1995-08-01 | PMID 8529403
Castillo B V, Little C W, del Cerro C and 1 more
Genes: RPE
Genetic control of synapsis and recombination in Lolium amphidiploids.
Chromosoma | 1995-11-01 | PMID 8529455
Jenkins G, Jimenez G
Chromosome dynamics in rad12 mutants of Coprinus cinereus.
Chromosoma | 1995-11-01 | PMID 8529459
Ramesh M A, Zolan M E
Identification of functional domains in the Sep1 protein (= Kem1, Xrn1), which is required for transition through meiotic prophase in Saccharomyces cerevisiae.
Chromosoma | 1995-11-01 | PMID 8529461
Bashkirov V I, Solinger J A, Heyer W D
Genetic and phenotypic heterogeneity of human malignancies: finding order in chaos.
Cytometry | 1995-09-01 | PMID 8529466
Shackney S E, Shankey T V
Pancreatic pathology in non-insulin dependent diabetes (NIDDM).
Diabetes research and clinical practice | 1995-08-01 | PMID 8529518
Clark A, de Koning E J, Hattersley A T and 3 more
Genes: IAPP
Common genetic mechanisms in alcohol, drug, and mental disorder comorbidity.
Drug and alcohol dependence | 1995-08-01 | PMID 8529532
Pickens R W, Svikis D S, McGue M and 1 more
Single strand conformational polymorphism using capillary electrophoresis with two-dye laser-induced fluorescence detection.
Electrophoresis | 1995-08-01 | PMID 8529609
Hebenbrock K, Williams P M, Karger B L
Genes: IGF1
Different human interleukin-4 mutants preferentially activate human or murine common receptor gamma chain.
European journal of biochemistry | 1995-11-15 | PMID 8529628
Lischke A, Kammer W, Friedrich K
Identification of Trp300 as an important residue for Escherichia coli leader peptidase activity.
European journal of biochemistry | 1995-11-15 | PMID 8529665
Kim Y T, Muramatsu T, Takahashi K
Phosphotyrosine residues in the nerve-growth-factor receptor (Trk-A). Their role in the activation of inositolphospholipid metabolism and protein kinase cascades in phaeochromocytoma (PC12) cells.
European journal of biochemistry | 1995-11-15 | PMID 8529673
Baxter R M, Cohen P, Obermeier A and 3 more
Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.
European journal of pediatrics | 1995-10-01 | PMID 8529685
Franceschini P, Martino S, Ciocchini M and 7 more
Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses.
Human genetics | 1995-11-01 | PMID 8530001
Férec C, Verlingue C, Parent P and 7 more
Genes: CFTR
A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.
Human genetics | 1995-11-01 | PMID 8530002
García-Pérez M A, Paz Briones P S, García-Munñoz M J and 1 more
Genes: OTC
A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency.
Human genetics | 1995-11-01 | PMID 8530011
Broly F, Marez D, Lo Guidice J M and 4 more
Single-cell PCR performed with neurofibroma Schwann cells reveals the presence of both alleles of the neurofibromatosis type 1 (NF1) gene.
Human genetics | 1995-11-01 | PMID 8530015
Stark M, Assum G, Krone W
A 37-marker PCR-based genetic linkage map of human chromosome 9: observations on mutations and positive interference.
Genomics | 1995-07-20 | PMID 8530019
Zahn L M, Kwiatkowski D J
Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II.
Genomics | 1995-07-20 | PMID 8530028
Ma J, Norton J C, Allen A C and 5 more
High-resolution comparative mapping of the proximal region of the mouse X chromosome.
Genomics | 1995-07-20 | PMID 8530041
Blair H J, Ho M, Monaco A P and 3 more
Genes: ALAS2, DMD, GATA1, SYP
Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.
Genomics | 1995-09-01 | PMID 8530058
Westberg J, Fredrikson G N, Truedsson L and 2 more
Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction.
Genomics | 1995-09-01 | PMID 8530065
Day D J, Speiser P W, White P C and 1 more
Expression pattern and mapping of the murine versican gene (Cspg2) to chromosome 13.
Genomics | 1995-09-01 | PMID 8530092
Naso M F, Morgan J L, Buchberg A M and 2 more
Structure of the mouse tyrosinase-related protein-2/dopachrome tautomerase (Tyrp2/Dct) gene and sequence of two novel slaty alleles.
Genomics | 1995-09-01 | PMID 8530099
Budd P S, Jackson I J
A novel cytochrome b5-like domain is linked to the carboxyl terminus of the Saccharomyces cerevisiae delta-9 fatty acid desaturase.
The Journal of biological chemistry | 1995-12-15 | PMID 8530368
Mitchell A G, Martin C E
A physiological role for Saccharomyces cerevisiae copper/zinc superoxide dismutase in copper buffering.
The Journal of biological chemistry | 1995-12-15 | PMID 8530401
Culotta V C, Joh H D, Lin S J and 2 more
Genes: SOD1, SOD2
Multiple regions of yeast ribosomal protein L1 are important for its interaction with 5 S rRNA and assembly into ribosomes.
The Journal of biological chemistry | 1995-12-15 | PMID 8530422
Deshmukh M, Stark J, Yeh L C and 2 more
LEC18, a dominant Chinese hamster ovary glycosylation mutant synthesizes N-linked carbohydrates with a novel core structure.
The Journal of biological chemistry | 1995-12-22 | PMID 8530451
Raju T S, Ray M K, Stanley P
The envA permeability/cell division gene of Escherichia coli encodes the second enzyme of lipid A biosynthesis. UDP-3-O-(R-3-hydroxymyristoyl)-N-acetylglucosamine deacetylase.
The Journal of biological chemistry | 1995-12-22 | PMID 8530464
Young K, Silver L L, Bramhill D and 5 more
Genes: SDS
Interference of PR-bound RNA polymerase with open complex formation at PRM is relieved by a 10-base pair deletion between the two promoters.
The Journal of biological chemistry | 1995-12-22 | PMID 8530470
Mita B C, Tang Y, deHaseth P L
Protein loop grafting to construct a variant of tissue-type plasminogen activator that binds platelet integrin alpha IIb beta 3.
The Journal of biological chemistry | 1995-12-22 | PMID 8530479
Smith J W, Tachias K, Madison E L
Fibroblast growth factor receptors (FGFRs) localize in different cellular compartments. A splice variant of FGFR-3 localizes to the nucleus.
The Journal of biological chemistry | 1995-12-22 | PMID 8530501
Johnston C L, Cox H C, Gomm J J and 1 more
Targeted disruption of H2B-V encoding a particular H2B histone variant causes changes in protein patterns on two-dimensional polyacrylamide gel electrophoresis in the DT40 chicken B cell line.
The Journal of biological chemistry | 1995-12-22 | PMID 8530504
Takami Y, Takeda S, Nakayama T
Dominant-negative mutants of Grb2 induced reversal of the transformed phenotypes caused by the point mutation-activated rat HER-2/Neu.
The Journal of biological chemistry | 1995-12-22 | PMID 8530511
Xie Y, Pendergast A M, Hung M C
A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.
The Journal of clinical endocrinology and metabolism | 1995-12-01 | PMID 8530604
Cogan J D, Ramel B, Lehto M and 6 more