A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.
Journal of inherited metabolic disease | 2001-06-01 | PMID 11486899
Skrygan M, Bartholomé B, Bonafé L and 2 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 1599 of 10600
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.
Journal of inherited metabolic disease | 2001-06-01 | PMID 11486900
Spaapen L J, Bakker J A, Velter C and 11 more
Genes: PAH
Factor V Leiden mutation in Turkish patients with homozygous cystathionine beta-synthase deficiency.
Journal of inherited metabolic disease | 2001-06-01 | PMID 11486902
Kalkanoğlu H S, Coşkun T, Aydoğdu S D and 2 more
Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27).
Journal of inherited metabolic disease | 2001-06-01 | PMID 11486904
Sugama S, Kimura A, Chen W and 4 more
Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: culturally permissible testing in the Mennonite community.
Journal of inherited metabolic disease | 2001-06-01 | PMID 11486905
Love-Gregory L D, Dyer J A, Grasela J and 2 more
Genes: BCKDHA
Genetic interactions between the coagulation and fibrinolytic systems.
Thrombosis and haemostasis | 2001-07-01 | PMID 11486998
Degen J L
The conformational basis of thrombosis.
Thrombosis and haemostasis | 2001-07-01 | PMID 11487000
Carrell R W, Huntington J A, Mushunje A and 1 more
Getting at the variable expressivity of von Willebrand disease.
Thrombosis and haemostasis | 2001-07-01 | PMID 11487001
Levy G, Ginsburg D
Genes: VWF
The molecular basis of inherited afibrinogenaemia.
Thrombosis and haemostasis | 2001-07-01 | PMID 11487003
Neerman-Arbez M
Genes: FGA
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.
Thrombosis and haemostasis | 2001-07-01 | PMID 11487012
Huizing M, Anikster Y, Gahl W A
Genes: HPS1, LYST
Haemostatic genetic risk factors in arterial thrombosis.
Thrombosis and haemostasis | 2001-07-01 | PMID 11487027
Simmonds R E, Hermida J, Rezende S M and 1 more
Physiopathology and regulation of factor XIII.
Thrombosis and haemostasis | 2001-07-01 | PMID 11487042
Ichinose A
Genetic approach to thrombophilia.
Thrombosis and haemostasis | 2001-07-01 | PMID 11487047
Bertina R M
Oxidative damage is the earliest event in Alzheimer disease.
Journal of neuropathology and experimental neurology | 2001-08-01 | PMID 11487050
Nunomura A, Perry G, Aliev G and 11 more
Cholesterol accumulates in senile plaques of Alzheimer disease patients and in transgenic APP(SW) mice.
Journal of neuropathology and experimental neurology | 2001-08-01 | PMID 11487052
Mori T, Paris D, Town T and 8 more
Genes: APP
Epidemiology of progressive supranuclear palsy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2001-02-01 | PMID 11487180
Vanacore N, Bonifati V, Colosimo C and 12 more
Clinical and genetic study of essential tremor in the Italian population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2001-02-01 | PMID 11487191
Abbruzzese G, Pigullo S, Di Maria E and 11 more
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2001-02-01 | PMID 11487197
Bonifati V, De Michele G, Lücking C B and 15 more
Decreased platelet glutamate uptake and genetic risk factors in patients with Parkinson's disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2001-02-01 | PMID 11487204
Ferrarese C, Tremolizzo L, Rigoldi M and 9 more
The parkin gene is not a major susceptibility locus for typical late-onset Parkinson's disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2001-02-01 | PMID 11487208
Oliveri R L, Zappia M, Annesi G and 13 more
Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2001-02-01 | PMID 11487218
Valente E M, Bentivoglio A R, Cassetta E and 7 more
Epidemiology of multiple system atrophy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2001-02-01 | PMID 11487219
Vanacore N, Bonifati V, Fabbrini G and 12 more
Spatio-temporal genetic variability in the schistosome intermediate host Biomphalaria pfeifferi.
Annals of tropical medicine and parasitology | 2001-07-01 | PMID 11487373
Webster J P, Davies C M, Ndamba J and 3 more
Acetyllysine-binding and function of bromodomain-containing proteins in chromatin.
Frontiers in bioscience : a journal and virtual library | 2001-08-01 | PMID 11487465
Dyson M H, Rose S, Mahadevan L C
The bromodomain: a chromatin browser?
Frontiers in bioscience : a journal and virtual library | 2001-08-01 | PMID 11487466
Filetici P, P O, Ballario P
Human MHC class III and IV genes and disease associations.
Frontiers in bioscience : a journal and virtual library | 2001-08-01 | PMID 11487469
Gruen J R, Weissman S M
Genes: AIF1, TNF
Genetics of human complement component C4 and evolution the central MHC.
Frontiers in bioscience : a journal and virtual library | 2001-08-01 | PMID 11487475
Martinez O P, Longman-Jacobsen N, Davies R and 5 more
Genetic organization of the human MHC class III region.
Frontiers in bioscience : a journal and virtual library | 2001-08-01 | PMID 11487476
Milner C M, Campbell R D
Voltage-dependent acceleration of Ca(v)1.2 channel current decay by (+)- and (-)-isradipine.
British journal of pharmacology | 2001-08-01 | PMID 11487504
Berjukow S, Hering S
Polymorphisms and colorectal tumor risk.
Gastroenterology | 2001-08-01 | PMID 11487538
Houlston R S, Tomlinson I P
Genes: APC, MTHFR, GSTM1, GSTP1, GSTT1, NAT1, NAT2
Ki-ras proto-oncogene mutations in sporadic colorectal adenomas: relationship to histologic and clinical characteristics.
Gastroenterology | 2001-08-01 | PMID 11487539
Maltzman T, Knoll K, Martinez M E and 11 more
Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit.
Gastroenterology | 2001-08-01 | PMID 11487544
Richardson C E, Morgan J M, Jasani B and 7 more
Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.
Human molecular genetics | 2001-08-01 | PMID 11487564
Haider N B, Naggert J K, Nishina P M
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.
Human molecular genetics | 2001-08-01 | PMID 11487566
Priston M, Kozlowski K, Gill D and 5 more
Genes: PITX2
Enzyme therapy for lysosomal acid lipase deficiency in the mouse.
Human molecular genetics | 2001-08-01 | PMID 11487567
Du H, Schiavi S, Levine M and 3 more
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.
Human molecular genetics | 2001-08-01 | PMID 11487568
Hedrich K, Kann M, Lanthaler A J and 10 more
Mismatch repair detection (MRD): high-throughput scanning for DNA variations.
Human molecular genetics | 2001-08-01 | PMID 11487569
Faham M, Baharloo S, Tomitaka S and 2 more
Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.
Human molecular genetics | 2001-08-01 | PMID 11487570
De Jonghe C, Esselens C, Kumar-Singh S and 6 more
Genes: APP
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.
Human molecular genetics | 2001-08-01 | PMID 11487571
Rajpar M H, Harley K, Laing C and 2 more
SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types.
Human molecular genetics | 2001-08-01 | PMID 11487572
Yvert G, Lindenberg K S, Devys D and 3 more
Instability of a (CGG)98 repeat in the Fmr1 promoter.
Human molecular genetics | 2001-08-01 | PMID 11487573
Bontekoe C J, Bakker C E, Nieuwenhuizen I M and 5 more
Genes: FMR1
The melanocortin-1-receptor gene is the major freckle gene.
Human molecular genetics | 2001-08-01 | PMID 11487574
Bastiaens M, ter Huurne J, Gruis N and 4 more
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Human molecular genetics | 2001-08-01 | PMID 11487575
Alagramam K N, Yuan H, Kuehn M H and 17 more
Genes: PCDH15
Axin-dependent phosphorylation of the adenomatous polyposis coli protein mediated by casein kinase 1epsilon.
The Journal of biological chemistry | 2001-10-19 | PMID 11487578
Rubinfeld B, Tice D A, Polakis P
Genes: APC
Indecisive M13 procoat protein mutants bind to SecA but do not activate the translocation ATPase.
The Journal of biological chemistry | 2001-10-12 | PMID 11487581
Roos T, Kiefer D, Hugenschmidt S and 2 more
The polymorphism at codon 54 of the FABP2 gene increases fat absorption in human intestinal explants.
The Journal of biological chemistry | 2001-10-26 | PMID 11487582
Levy E, Ménard D, Delvin E and 6 more
Genes: FABP2
Hematopoietic progenitor kinase 1 associates physically and functionally with the adaptor proteins B cell linker protein and SLP-76 in lymphocytes.
The Journal of biological chemistry | 2001-11-30 | PMID 11487585
Sauer K, Liou J, Singh S B and 3 more
Genes: BLNK, BCR
Agonist-dependent repression mediated by mutant estrogen receptor alpha that lacks the activation function 2 core domain.
The Journal of biological chemistry | 2001-10-05 | PMID 11487586
Jung D J, Lee S K, Lee J W
Negative cooperativity of substrate binding but not enzyme activity in wild-type and mutant forms of CTP:glycerol-3-phosphate cytidylyltransferase.
The Journal of biological chemistry | 2001-10-12 | PMID 11487587
Sanker S, Campbell H A, Kent C
Age-specific demographic profiles of longevity mutants in Caenorhabditis elegans show segmental effects.
The journals of gerontology. Series A, Biological sciences and medical sciences | 2001-08-01 | PMID 11487591
Johnson T E, Wu D, Tedesco P and 2 more
Genes that prolong life: relationships of growth hormone and growth to aging and life span.
The journals of gerontology. Series A, Biological sciences and medical sciences | 2001-08-01 | PMID 11487592
Bartke A, Coschigano K, Kopchick J and 4 more
Mutations in the Caenorhabditis elegans serotonin reuptake transporter MOD-5 reveal serotonin-dependent and -independent activities of fluoxetine.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2001-08-15 | PMID 11487610
Ranganathan R, Sawin E R, Trent C and 1 more
Attenuated neurodegenerative disease phenotype in tau transgenic mouse lacking neurofilaments.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2001-08-15 | PMID 11487626
Ishihara T, Higuchi M, Zhang B and 4 more
Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2001-08-15 | PMID 11487633
Barclay J, Balaguero N, Mione M and 13 more
Myosin IIB is required for growth cone motility.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2001-08-15 | PMID 11487639
Bridgman P C, Dave S, Asnes C F and 2 more
Spatial shaping of cochlear innervation by temporally regulated neurotrophin expression.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2001-08-15 | PMID 11487640
Fariñas I, Jones K R, Tessarollo L and 8 more
Genes: BDNF
Aldolase C/zebrin II expression in the neonatal rat forebrain reveals cellular heterogeneity within the subventricular zone and early astrocyte differentiation.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2001-08-15 | PMID 11487642
Staugaitis S M, Zerlin M, Hawkes R and 2 more
Genes: GFAP
Increasing the number of synapses modifies olfactory perception in Drosophila.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2001-08-15 | PMID 11487649
Acebes A, Ferrús A
Odor exposure causes central adaptation and morphological changes in selected olfactory glomeruli in Drosophila.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2001-08-15 | PMID 11487650
Devaud J M, Acebes A, Ferrús A
ORE9, an F-box protein that regulates leaf senescence in Arabidopsis.
The Plant cell | 2001-08-01 | PMID 11487692
Woo H R, Chung K M, Park J H and 5 more
The PET1-CMS mitochondrial mutation in sunflower is associated with premature programmed cell death and cytochrome c release.
The Plant cell | 2001-08-01 | PMID 11487694
Balk J, Leaver C J
The Arabidopsis sex1 mutant is defective in the R1 protein, a general regulator of starch degradation in plants, and not in the chloroplast hexose transporter.
The Plant cell | 2001-08-01 | PMID 11487701
Yu T S, Kofler H, Häusler R E and 11 more
Congenital microcephaly: phenotypic features in a consecutive sample of newborn infants.
The Journal of pediatrics | 2001-08-01 | PMID 11487745
Vargas J E, Allred E N, Leviton A and 1 more
The complementary roles of observation and experiment: Theodosius Dobzhansky's Genetics of Natural Populations IX and XII.
History and philosophy of the life sciences | 2000-01-01 | PMID 11488141
Rudge D W
[Determination of the type and subtype of the hepatitis C virus in chronic viral hepatitis patients in Hungary].
Orvosi hetilap | 2001-06-24 | PMID 11488211
Gervain J, Simon G, Papp I and 1 more
Human leukocyte antigen genes may outweigh racial background when generating a specific immune response in sarcoidosis.
The European respiratory journal | 2001-05-01 | PMID 11488307
Grunewald J, Eklund A
Degradation of mutant proteins, underlying "loss of function" phenotypes, plays a major role in genetic disease.
Current issues in molecular biology | 2001-07-01 | PMID 11488412
Waters P J
Some specific human leukocyte antigen (HLA)-DR/DQ haplotypes are more important than individual HLA-DR and -DQ phenotypes for the development of mucocutaneous type of Behçet's disease and for disease shift from recurrent aphthous stomatitis to mucocutaneous type of Behçet's disease.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology | 2001-08-01 | PMID 11488417
Sun A, Hsieh R P, Chu C T and 3 more
Inducible expression of bacterio-opsin in transgenic tobacco and tomato plants.
Plant molecular biology | 2001-06-01 | PMID 11488478
Rizhsky L, Mittler R
Two S-adenosylmethionine synthetase-encoding genes differentially expressed during adventitious root development in Pinus contorta.
Plant molecular biology | 2001-06-01 | PMID 11488480
Lindroth A M, Saarikoski P, Flygh G and 5 more
A Kunitz trypsin inhibitor gene family from trembling aspen (Populus tremuloides Michx.): cloning, functional expression, and induction by wounding and herbivory.
Plant molecular biology | 2001-06-01 | PMID 11488481
Haruta M, Major I T, Christopher M E and 2 more
Expression and integrity of DNA topoisomerase II isoforms does not explain generic drug resistance in malignant mesothelioma.
Cancer chemotherapy and pharmacology | 2001-07-01 | PMID 11488518
McLaren B R, Whitaker D, Robinson B W and 1 more
Potential involvement of several nitroreductases in metronidazole resistance in Helicobacter pylori.
Archives of biochemistry and biophysics | 2001-08-15 | PMID 11488591
Jorgensen M A, Trend M A, Hazell S L and 1 more
Disruption of histidine catabolism in NEUT2 mice.
Archives of biochemistry and biophysics | 2001-08-15 | PMID 11488596
Cook R J
Accessibility and activity of the promoter for a dioxin-inducible ecto-ATPase gene.
Archives of biochemistry and biophysics | 2001-08-15 | PMID 11488602
Gao L, Whitlock J P
In vitro assembly of feline immunodeficiency virus capsid protein: biological role of conserved cysteines.
Archives of biochemistry and biophysics | 2001-08-15 | PMID 11488604
Nath M D, Peterson D L
Requirements of Cyc2p and the porin, Por1p, for ionic stability and mitochondrial integrity in Saccharomyces cerevisiae.
Archives of biochemistry and biophysics | 2001-08-15 | PMID 11488609
Sánchez N S, Pearce D A, Cardillo T S and 2 more
Flexibility of TCR repertoire and permissiveness of HLA-DR3 molecules in experimental autoimmune thyroiditis in nonobese diabetic mice.
Journal of autoimmunity | 2001-08-01 | PMID 11488633
Flynn J C, Fuller B E, Giraldo A A and 3 more
Genetic susceptibility to asthma and atopy among Chinese in Singapore--linkage to markers on chromosome 5q31-33.
Allergy | 2001-08-01 | PMID 11488668
Shek L P, Tay A H, Chew F T and 2 more
No linkage and association of atopy to chromosome 16 including the interleukin-4 receptor gene.
Allergy | 2001-08-01 | PMID 11488673
Haagerup A, Bjerke T, Schiøtz P O and 3 more
Phenotypic changes associated with deletion and overexpression of a stage-regulated gene family in Leishmania.
Cellular microbiology | 2001-08-01 | PMID 11488813
McKean P G, Denny P W, Knuepfer E and 2 more
Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?
Epilepsia | 2001-07-01 | PMID 11488881
Singh R, Andermann E, Whitehouse W P and 7 more
Regulation of MDR1 promoter activity in human breast carcinoma cells by protein kinase C isozymes alpha and theta.
European journal of biochemistry | 2001-08-01 | PMID 11488907
Gill P K, Gescher A, Gant T W
Genes: CAT
Improving solubility of catalytic domain of human beta-1,4-galactosyltransferase 1 through rationally designed amino acid replacements.
European journal of biochemistry | 2001-08-01 | PMID 11488931
Malissard M, Berger E G
Increased risk for acute myeloid leukaemia in individuals with glutathione S-transferase mu 1 (GSTM1) and theta 1 (GSTT1) gene defects.
European journal of haematology | 2001-06-01 | PMID 11488937
Arruda V R, Lima C S, Grignoli C R and 5 more
Genes: GSTM1, GSTT1
Roles of the glutamate receptor epsilon2 and delta2 subunits in the potentiation and prepulse inhibition of the acoustic startle reflex.
The European journal of neuroscience | 2001-07-01 | PMID 11488959
Takeuchi T, Kiyama Y, Nakamura K and 8 more
River basin-related genetic structuring in an endangered fish species, Chondrostoma lusitanicum, based on mtDNA sequencing and RFLP analysis.
Heredity | 2001-03-01 | PMID 11488963
Mesquita N, Carvalho G, Shaw P and 2 more
Genetics of sex determination in the gynodioecious species Lobelia siphilitica: evidence from two populations.
Heredity | 2001-03-01 | PMID 11488964
Dudle D A, Mutikainen P, Delph L F
Molecular approaches to the taxonomic position of Peruvian potato cyst nematodes and gene pool similarities in indigenous and imported populations of Globodera.
Heredity | 2001-03-01 | PMID 11488965
Grenier E, Bossis M, Fouville D and 2 more
Population analysis of an unusual NOR-site polymorphism in brown trout (Salmo trutta L.).
Heredity | 2001-03-01 | PMID 11488966
Castro J, Rodríguez S, Pardo B G and 2 more
Chromosome races with Pliocene origins: evidence from mtDNA.
Heredity | 2001-03-01 | PMID 11488967
Morgan-Richards M, Trewick S A, Wallis G P
Genetic and demographic parameters determining population persistence after a discrete change in the environment.
Heredity | 2001-03-01 | PMID 11488968
Boulding E G, Hay T
Quantitative trait loci for upper thermal tolerance in outbred strains of rainbow trout (Oncorhynchus mykiss).
Heredity | 2001-03-01 | PMID 11488970
Perry G M, Danzmann R G, Ferguson M M and 1 more
The zone of sympatry and hybridization of Mytilus edulis and M. galloprovincialis, as described by intron length polymorphism at locus mac-1.
Heredity | 2001-03-01 | PMID 11488971
Daguin C, Bonhomme F, Borsa P
Sequence variation in the mitochondrial DNA control region of wild African cheetahs (Acinonyx jubatus).
Heredity | 2001-03-01 | PMID 11488972
Freeman A R, MacHugh D E, McKeown S and 3 more
Genetic variation of morphological traits in Drosophila melanogaster under poor nutrition: isofemale lines and offspring--parent regression.
Heredity | 2001-03-01 | PMID 11488973
Bubliy O A, Loeschcke V, Imasheva A G
Population structure and dispersal in the Canary Island caddisfly Mesophylax aspersus (Trichoptera, Limnephilidae).
Heredity | 2001-03-01 | PMID 11488974
Kelly L C, Bilton D T, Rundle S D
Genetic markers substantiate long-term storage and utilization of sperm by female painted turtles.
Heredity | 2001-03-01 | PMID 11488975
Pearse D E, Janzen F J, Avise J C
The dysmetabolic syndrome.
Journal of internal medicine | 2001-08-01 | PMID 11489060
Groop L, Orho-Melander M
The nsdD gene encodes a putative GATA-type transcription factor necessary for sexual development of Aspergillus nidulans.
Molecular microbiology | 2001-07-01 | PMID 11489119
Han K H, Han K Y, Yu J H and 3 more