Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
Human genetics | 1998-04-01 | PMID 9600238
Burwinkel B, Amat L, Gray R G and 6 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 988 of 10600
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
Human genetics | 1998-04-01 | PMID 9600239
Kure S, Mandel H, Rolland M O and 7 more
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.
Human genetics | 1998-04-01 | PMID 9600240
Itoh T, Tanaka T, Nagai R and 7 more
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
Human genetics | 1998-04-01 | PMID 9600243
Schwartz M, Christensen E, Superti-Furga A and 1 more
Genes: GCDH
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.
Human genetics | 1998-04-01 | PMID 9600244
Gomez-Lira M, Perusi C, Mottes M and 4 more
High frequency of polymorphism but no mutations found in the GLUT1 glucose transporter gene in NIDDM and familial obesity by SSCP analysis.
Human genetics | 1998-04-01 | PMID 9600248
Baroni M G, D'Andrea M P, Capici F and 5 more
Mutational analysis of the CCR5 and CXCR4 genes (HIV-1 co-receptors) in resistance to HIV-1 infection and AIDS development among intravenous drug users.
Human genetics | 1998-04-01 | PMID 9600249
Alvarez V, López-Larrea C, Coto E
Genes: CCR5, CXCR4
UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients.
Human genetics | 1998-04-01 | PMID 9600250
Fung D C, Yu B, Cheong K F and 2 more
The association between telomerase, p53, and clinical staging in colorectal cancer.
American journal of surgery | 1998-05-01 | PMID 9600278
Brown T, Aldous W, Lance R and 3 more
Genotoxicity of propoxur and its N-nitroso derivative in mammalian cells.
Carcinogenesis | 1998-04-01 | PMID 9600347
Wang T C, Chiou J M, Chang Y L and 1 more
Chemical cleavage of mismatch: a new look at an established method.
Human mutation | 1998-01-01 | PMID 9600452
Ellis T P, Humphrey K E, Smith M J and 1 more
Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations.
Human mutation | 1998-01-01 | PMID 9600453
De Lucca M, Pérez B, Desviat L R and 1 more
Genes: PAH
Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging.
Human mutation | 1998-01-01 | PMID 9600454
Zhang C, Liu V W, Addessi C L and 3 more
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
Human mutation | 1998-01-01 | PMID 9600456
Wataya K, Akanuma J, Cavadini P and 8 more
Genes: CPT2
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
Human mutation | 1998-01-01 | PMID 9600457
Scott D A, Kraft M L, Carmi R and 11 more
Rapid, efficient method for multiplex amplification from filter paper.
Human mutation | 1998-01-01 | PMID 9600459
Caggana M, Conroy J M, Pass K A
Correlation between alcohol-induced asthma and acetaldehyde dehydrogenase-2 genotype.
The Journal of allergy and clinical immunology | 1998-05-01 | PMID 9600491
Takao A, Shimoda T, Kohno S and 2 more
Genes: ALDH2
X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).
Acta neuropathologica | 1998-05-01 | PMID 9600589
Senderek J, Bergmann C, Quasthoff S and 2 more
Apolipoprotein E epsilon4 allele and progression of cortical Lewy body pathology in Parkinson's disease.
Acta neuropathologica | 1998-05-01 | PMID 9600590
Wakabayashi K, Kakita A, Hayashi S and 6 more
Genes: APOE
Accumulation of argyrophilic substances in neuronal cytoplasm of aging groggy mutant rat.
Acta neuropathologica | 1998-05-01 | PMID 9600595
Takeuchi I K, Takeuchi Y K
Understanding glial abnormalities associated with myelin deficiency in the jimpy mutant mouse.
Brain research. Brain research reviews | 1998-03-01 | PMID 9600623
Vela J M, González B, Castellano B
Adhesion molecule phenotype of T lymphocytes in inflamed CNS.
Journal of neuroimmunology | 1998-04-01 | PMID 9600713
Engelhardt B, Martin-Simonet M T, Rott L S and 2 more
De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.
American journal of medical genetics | 1998-05-26 | PMID 9600739
Yue Q, Jen J C, Thwe M M and 2 more
Changes in osteoblast phenotype during differentiation of enzymatically isolated rat calvaria cells.
Bone | 1998-05-01 | PMID 9600781
Wada Y, Kataoka H, Yokose S and 5 more
Genes: PTH
Morphometric skeletal traits, femoral measurements, and bone mineral deposition in mice with agonistic selection for body conformation.
Bone | 1998-05-01 | PMID 9600789
Di Masso R J, Celoria G C, Font M T
Vitamin D receptor alleles do not predict bone mineral density or bone loss in Danish perimenopausal women.
Bone | 1998-05-01 | PMID 9600794
Hansen T S, Abrahamsen B, Henriksen F L and 4 more
Genes: VDR
The effect of toxicokinetics on murine mercury-induced autoimmunity.
Environmental research | 1998-05-01 | PMID 9600807
Hultman P, Nielsen J B
A non-hypervariable human minisatellite strongly stimulates in vitro intramolecular homologous recombination.
Journal of molecular biology | 1998-05-08 | PMID 9600833
Boán F, Rodríguez J M, Gómez-Márquez J
Two distinct pathways can control expression of the gene encoding the Drosophila antimicrobial peptide metchnikowin.
Journal of molecular biology | 1998-05-08 | PMID 9600835
Levashina E A, Ohresser S, Lemaitre B and 1 more
Operator search by mutant Lac repressors.
Journal of molecular biology | 1998-05-08 | PMID 9600838
Barker A, Fickert R, Oehler S and 1 more
Mapping the sigma70 subunit contact sites on Escherichia coli RNA polymerase with a sigma70-conjugated chemical protease.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600910
Owens J T, Miyake R, Murakami K and 4 more
Enhancing leptin response by preventing SH2-containing phosphatase 2 interaction with Ob receptor.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600917
Carpenter L R, Farruggella T J, Symes A and 3 more
Genes: STAT3
Free energy of burying hydrophobic residues in the interface between protein subunits.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600924
Vallone B, Miele A E, Vecchini P and 2 more
p53-Dependent and -independent responses to cisplatin in mouse testicular teratocarcinoma cells.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600935
Zamble D B, Jacks T, Lippard S J
A resource range invariance rule for optimal offspring size predicts patterns of variability in parental phenotypes.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600943
Downhower J F, Charnov E L
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600966
Karet F E, Gainza F J, Györy A Z and 13 more
Chaperone-facilitated copper binding is a property common to several classes of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600970
Corson L B, Strain J J, Culotta V C and 1 more
Genes: SOD1, CCS
Identification of rat susceptibility loci for adjuvant-oil-induced arthritis.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600974
Lorentzen J C, Glaser A, Jacobsson L and 4 more
Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600976
Garrett R M, Johnson J L, Graf T N and 2 more
Molecular characterization of the phenylacetic acid catabolic pathway in Pseudomonas putida U: the phenylacetyl-CoA catabolon.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600981
Olivera E R, Miñambres B, García B and 6 more
Electrostatic interactions between rotor and stator in the bacterial flagellar motor.
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600984
Zhou J, Lloyd S A, Blair D F
Mutations of gamma-aminobutyric acid and glycine receptors change alcohol cutoff: evidence for an alcohol receptor?
Proceedings of the National Academy of Sciences of the United States of America | 1998-05-26 | PMID 9600996
Wick M J, Mihic S J, Ueno S and 6 more
Gene silencing in plants: relevance for genome evolution and the acquisition of genomic methylation patterns.
Novartis Foundation symposium | 1998-01-01 | PMID 9601017
Matzke M A, Matzke A J
Characterization of sphingosine kinase (SK) activity in Saccharomyces cerevisiae and isolation of SK-deficient mutants.
The Biochemical journal | 1998-06-01 | PMID 9601083
Lanterman M M, Saba J D
The small GTP-binding protein RacG regulates uroid formation in the protozoan parasite Entamoeba histolytica.
Journal of cell science | 1998-06-01 | PMID 9601102
Guillén N, Boquet P, Sansonetti P
Chiaroscuro hematopoietic stem cell.
Transactions of the American Clinical and Climatological Association | 1998-01-01 | PMID 9601124
Quesenberry P, Habibian M, Dooner M and 9 more
The first strand transfer during HIV-1 reverse transcription can occur either intramolecularly or intermolecularly.
Virology | 1998-05-10 | PMID 9601495
van Wamel J L, Berkhout B
The tyrosine-17 residue of Nef in SIVsmmPBj14 is required for acute pathogenesis and contributes to replication in macrophages.
Virology | 1998-05-10 | PMID 9601497
Saucier M, Hodge S, Dewhurst S and 4 more
Postreassortment changes in influenza A virus hemagglutinin restoring HA-NA functional match.
Virology | 1998-05-10 | PMID 9601502
Kaverin N V, Gambaryan A S, Bovin N V and 7 more
Human cells arrest in S phase in response to adenovirus 12 E1A.
Virology | 1998-05-10 | PMID 9601504
Grand R J, Ibrahim A P, Taylor A M and 4 more
The complete genomic sequence of the modified vaccinia Ankara strain: comparison with other orthopoxviruses.
Virology | 1998-05-10 | PMID 9601507
Antoine G, Scheiflinger F, Dorner F and 1 more
Adaptation of Theiler's virus to L929 cells: mutations in the putative receptor binding site on the capsid map to neutralization sites and modulate viral persistence.
Virology | 1998-05-10 | PMID 9601508
Jnaoui K, Michiels T
Cell-to-cell movement of turnip crinkle virus is controlled by two small open reading frames that function in trans.
Virology | 1998-05-10 | PMID 9601509
Li W Z, Qu F, Morris T J
The exonuclease activity of HSV-1 UL12 is required for in vivo function.
Virology | 1998-05-10 | PMID 9601512
Goldstein J N, Weller S K
Molecular and in vitro analysis of eight dengue type 2 viruses isolated from patients exhibiting different disease severities.
Virology | 1998-05-10 | PMID 9601513
Mangada M N, Igarashi A
The induction of apoptosis by SV40 T antigen correlates with c-jun overexpression.
Virology | 1998-05-10 | PMID 9601520
Chen S L, Tsao Y P, Chen Y L and 3 more
Improved envelope function selected by long-term cultivation of a translation-impaired HIV-1 mutant.
Virology | 1998-05-10 | PMID 9601523
Das A T, van Dam A P, Klaver B and 1 more
Variability of persisting MHV RNA sequences constituting immune and replication-relevant domains.
Virology | 1998-05-10 | PMID 9601524
Bergmann C, Dimacali E, Stohl S and 4 more
Altered allelic distributions of the serotonin transporter gene in migraine without aura and migraine with aura.
Cephalalgia : an international journal of headache | 1998-01-01 | PMID 9601620
Ogilvie A D, Russell M B, Dhall P and 6 more
Leukemogenesis: small differences in Myb have large effects.
Current biology : CB | 1998-05-07 | PMID 9601636
Graf T
Schizophrenic psychoses and the CNTF null mutation.
Neuroreport | 1998-04-20 | PMID 9601653
Tanaka Y, Ujike H, Fujiwara Y and 5 more
Genes: CNTF
The tau mutation affects temperature compensation of hamster retinal circadian oscillators.
Neuroreport | 1998-04-20 | PMID 9601657
Tosini G, Menaker M
5-HT2A receptor gene promoter polymorphism--1438G/A and mood disorders.
Neuroreport | 1998-04-20 | PMID 9601682
Ohara K, Nagai M, Tsukamoto T and 3 more
The cDNA cloning and ontogeny of mouse alpha-synuclein.
Neuroreport | 1998-04-20 | PMID 9601701
Hong L, Ko H W, Gwag B J and 4 more
[Clinical findings in individuals with the factor V Leiden mutation].
Vnitrni lekarstvi | 1997-05-01 | PMID 9601852
Matýsková M, Vorlová Z, Hrachovinová I and 3 more
Lead concentration in the bones of the feral pigeons (Columba livia): sources of variation relating to body condition and death.
Archives of environmental contamination and toxicology | 1998-07-01 | PMID 9601922
Janiga M, Zemberyová M
Genetic mapping of the amide response element(s) of the hsr omega locus of Drosophila melanogaster.
Chromosoma | 1998-05-01 | PMID 9601981
Lakhotia S C, Tapadia M G
Reduced expression of pax-3 is associated with overexpression of cdc46 in the mouse embryo.
Development genes and evolution | 1998-05-01 | PMID 9601985
Hill A L, Phelan S A, Loeken M R
Genes: MCM5
Stability of the C-terminal peptide of CETP mediated through an (i, i + 4) array.
Biochimica et biophysica acta | 1998-04-23 | PMID 9602025
Bolaños-García V M, Soriano-García M, Mas-Oliva J
Genes: CETP
Structural analysis of mutant hen egg-white lysozyme preferring a minor binding mode.
Biochimica et biophysica acta | 1998-04-23 | PMID 9602036
Maenaka K, Matsushima M, Kawai G and 3 more
Differential role of specific PKC isoforms in the proliferation of glial cells and the expression of the astrocytic markers GFAP and glutamine synthetase.
Brain research. Molecular brain research | 1998-05-01 | PMID 9602083
Brodie C, Kuperstein I, Acs P and 1 more
Genes: GFAP
Epileptogenesis induced by rapidly recurring seizures in genetically fast- but not slow-kindling rats.
Brain research | 1998-04-06 | PMID 9602084
Elmér E, Kokaia M, Kokaia Z and 2 more
Functional implications of the 21-24 loop in recombinant prochymosin.
Biochimica et biophysica acta | 1998-04-23 | PMID 9602090
Li H, Zhang Y, Dong Y and 1 more
Search for mutations near the alternatively spliced 8-amino-acid exon in the GABAA receptor gamma 2 subunit gene and lack of allelic association with alcoholism among four aboriginal groups and Han Chinese in Taiwan.
Brain research. Molecular brain research | 1998-05-01 | PMID 9602154
Hsu Y P, Seow S V, Loh E W and 4 more
Cloning and sequencing of three new putative toxin genes from Clostridium bifermentans CH18.
Gene | 1998-05-12 | PMID 9602158
Barloy F, Lecadet M M, Delécluse A
The claR gene of Streptomyces clavuligerus, encoding a LysR-type regulatory protein controlling clavulanic acid biosynthesis, is linked to the clavulanate-9-aldehyde reductase (car) gene.
Gene | 1998-05-12 | PMID 9602162
Pérez-Redondo R, Rodríguez-García A, Martín J F and 1 more
Isolation of the Aspergillus nidulans sudD gene and its human homologue.
Gene | 1998-05-12 | PMID 9602165
Anaya P, Evans S C, Dai C and 2 more
Significance of the enzymatic properties of yeast S39A enolase to the catalytic mechanism.
Biochimica et biophysica acta | 1998-04-02 | PMID 9602170
Brewer J M, Glover C V, Holland M J and 1 more
A high-copy-number ADE2-bearing plasmid for transformation of Candida glabrata.
Gene | 1998-05-12 | PMID 9602176
Hanic-Joyce P J, Joyce P B
The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay.
The Journal of pediatrics | 1998-05-01 | PMID 9602188
Mazzocco M M, Myers G F, Hamner J L and 3 more
Genes: FMR1
X-linked recessive nephrolithiasis: presentation and diagnosis in children.
The Journal of pediatrics | 1998-05-01 | PMID 9602200
Schurman S J, Norden A G, Scheinman S J
Coinheritance of alpha-thalassemia-1 and hemoglobin E/beta zero-thalassemia: practical implications for neonatal screening and genetic counseling.
The Journal of pediatrics | 1998-05-01 | PMID 9602201
Krishnamurti L, Chui D H, Dallaire M and 3 more
Legg-Perthes disease in three siblings, two heterozygous and one homozygous for the factor V Leiden mutation.
The Journal of pediatrics | 1998-05-01 | PMID 9602208
Gruppo R, Glueck C J, Wall E and 2 more
Influence of plant genotype on the selection of nodulating Sinorhizobium meliloti strains by Medicago sativa.
Antonie van Leeuwenhoek | 1998-01-01 | PMID 9602273
Paffetti D, Daguin F, Fancelli S and 4 more
Evolution of competitive fitness in experimental populations of E. coli: what makes one genotype a better competitor than another?
Antonie van Leeuwenhoek | 1998-01-01 | PMID 9602277
Lenski R E, Mongold J A, Sniegowski P D and 4 more
Immunocytochemical expression of type I and type II collagens by rat Meckel's chondrocytes in culture during phenotypic transformation.
Archives of oral biology | 1998-02-01 | PMID 9602290
Ishizeki K, Kubo M, Yamamoto H and 1 more
Mutation, selection, and memory in B lymphocytes of exothermic vertebrates.
Immunological reviews | 1998-04-01 | PMID 9602349
Hsu E
Diversification of rabbit VH genes by gene-conversion-like and hypermutation mechanisms.
Immunological reviews | 1998-04-01 | PMID 9602351
Mage R G
Genes: CDR2, RAD51
Recombination-based mechanisms for somatic hypermutation.
Immunological reviews | 1998-04-01 | PMID 9602353
Kong Q, Harris R S, Maizels N
Immunoglobulin hypermutation in cultured cells.
Immunological reviews | 1998-04-01 | PMID 9602354
Green N S, Lin M M, Scharff M D
Somatic hypermutation in mouse lambda chains.
Immunological reviews | 1998-04-01 | PMID 9602356
Azuma T
Immunoglobulin gene hypermutation in germinal centers is independent of the RAG-1 V(D)J recombinase.
Immunological reviews | 1998-04-01 | PMID 9602359
Zheng B, Han S, Spanopoulou E and 1 more
Amino acid insertions and deletions contribute to diversify the human Ig repertoire.
Immunological reviews | 1998-04-01 | PMID 9602360
Wilson P, Liu Y J, Banchereau J and 2 more
Analysis of the targeting of the hypermutational machinery and the impact of subsequent selection on the distribution of nucleotide changes in human VHDJH rearrangements.
Immunological reviews | 1998-04-01 | PMID 9602362
Dörner T, Foster S J, Brezinschek H P and 1 more
Affinity selection and repertoire shift: paradoxes as a consequence of somatic mutation?
Immunological reviews | 1998-04-01 | PMID 9602363
Andersson K, Wrammert J, Leanderson T
Harmful somatic mutations: lessons from the dark side.
Immunological reviews | 1998-04-01 | PMID 9602365
Wiens G D, Roberts V A, Whitcomb E A and 3 more
Antibody feedback and somatic mutation in B cells: regulation of mutation by immune complexes with IgG antibody.
Immunological reviews | 1998-04-01 | PMID 9602366
Song H, Nie X, Basu S and 1 more
Somatic hypermutation in autoimmune thyroid disease.
Immunological reviews | 1998-04-01 | PMID 9602367
McIntosh R, Watson P, Weetman A
Genes: TPO
Somatic origin of T-cell epitopes within antibody variable regions: significance to monoclonal therapy and genesis of systemic autoimmune disease.
Immunological reviews | 1998-04-01 | PMID 9602368
Wysocki L J, Zhang X, Smith D S and 2 more
Insight into the origin and clonal history of B-cell tumors as revealed by analysis of immunoglobulin variable region genes.
Immunological reviews | 1998-04-01 | PMID 9602369
Stevenson F, Sahota S, Zhu D and 4 more