Recent advances in the molecular pathogenesis of Friedreich ataxia.
Human molecular genetics | 2000-04-12 | PMID 10767311
Puccio H, Koenig M
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.
Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.
Publications
Page 1316 of 10600
Towards new models of disease and physiology in the neurosciences: the role of induced and naturally occurring mutations.
Human molecular genetics | 2000-04-12 | PMID 10767312
Hunter A J, Nolan P M, Brown S D
Recent progress in psychiatric genetics-some hope but no hype.
Human molecular genetics | 2000-04-12 | PMID 10767316
Stoltenberg S F, Burmeister M
Analysis of mammalian central nervous system gene expression and function using bacterial artificial chromosome-mediated transgenesis.
Human molecular genetics | 2000-04-12 | PMID 10767317
Heintz N
Dissection of behavior and psychiatric disorders using the mouse as a model.
Human molecular genetics | 2000-04-12 | PMID 10767319
Tarantino L M, Bucan M
Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis.
Human molecular genetics | 2000-04-12 | PMID 10767320
Durand P, Fabrega S, Henrissat B and 2 more
Untangling tau-related dementia.
Human molecular genetics | 2000-04-12 | PMID 10767321
Heutink P
The proteolipid protein gene and myelin disorders in man and animal models.
Human molecular genetics | 2000-04-12 | PMID 10767322
Yool D A, Edgar J M, Montague P and 1 more
Mouse models for neural tube closure defects.
Human molecular genetics | 2000-04-12 | PMID 10767323
Juriloff D M, Harris M J
Large and diverse numbers of human diseases with HIKE mutations.
Human molecular genetics | 2000-04-12 | PMID 10767324
Ciccarelli F D, Acciarito A, Alberti S
Genes: BTK
Single nucleotide polymorphism and linkage disequilibrium within the TCR alpha/delta locus.
Human molecular genetics | 2000-04-12 | PMID 10767325
Moffatt M F, Traherne J A, Abecasis G R and 1 more
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.
Human molecular genetics | 2000-04-12 | PMID 10767326
Smith R S, Zabaleta A, Kume T and 7 more
Genes: FOXC1, FOXC2
Sequential deletion of C-terminal amino acids of the E(1)alpha component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E(1)alpha(2)beta(2) tetramers: implications for patients with PDH deficiency.
Human molecular genetics | 2000-04-12 | PMID 10767328
Seyda A, McEachern G, Haas R and 1 more
Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22.
Human molecular genetics | 2000-04-12 | PMID 10767329
Ekelund J, Lichtermann D, Hovatta I and 9 more
Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1.
Human molecular genetics | 2000-04-12 | PMID 10767330
Rutkowski J L, Wu K, Gutmann D H and 2 more
LMX1B transactivation and expression in nail-patella syndrome.
Human molecular genetics | 2000-04-12 | PMID 10767331
Dreyer S D, Morello R, German M S and 6 more
Genes: NPS, LDB1
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
Human molecular genetics | 2000-04-12 | PMID 10767332
Lukong K E, Elsliger M A, Chang Y and 9 more
Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse.
Human molecular genetics | 2000-04-12 | PMID 10767333
Liu Y, Wu Y P, Wada R and 7 more
Genes: NPC1
Expression of arylamine N-acetyltransferases in pre-term placentas and in human pre-implantation embryos.
Human molecular genetics | 2000-04-12 | PMID 10767335
Smelt V A, Upton A, Adjaye J and 5 more
Genes: NAT1, NAT2
Genome-wide scan for adult onset primary open angle glaucoma.
Human molecular genetics | 2000-04-12 | PMID 10767336
Wiggs J L, Allingham R R, Hossain A and 8 more
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
Human molecular genetics | 2000-04-12 | PMID 10767337
Cheadle J P, Gill H, Fleming N and 12 more
Genes: MECP2
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.
Human molecular genetics | 2000-04-12 | PMID 10767338
Sudbrak R, Brown J, Dobson-Stone C and 13 more
(Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features.
Human molecular genetics | 2000-05-01 | PMID 10767339
Peier A M, McIlwain K L, Kenneson A and 3 more
Genes: FMR1
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.
Human molecular genetics | 2000-05-01 | PMID 10767341
Colella S, Nardo T, Botta E and 2 more
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
Human molecular genetics | 2000-05-01 | PMID 10767347
Cossée M, Puccio H, Gansmuller A and 6 more
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.
Human molecular genetics | 2000-05-01 | PMID 10767351
Wuyts W, Reardon W, Preis S and 5 more
Genes: MSX2
An embryonal carcinoma multiple phenotype locus maps to the proximal position of the mouse X chromosome.
Oncology reports | 2000-01-01 | PMID 10767360
Yu L M, Zhang F, McCormick P J
Expression of variant CD44 containing variant exon v8-10 in gallbladder cancer.
Oncology reports | 2000-01-01 | PMID 10767365
Yamaguchi A, Zhang M, Goi T and 4 more
Polymorphic variation of the ARP gene on 3p21 in Japanese esophageal cancer patients.
Oncology reports | 2000-01-01 | PMID 10767373
Tanaka H, Shimada Y, Harada H and 4 more
Identification of a dysfibrinogen, the substitution of gamma308Asn(AAT) to Lys(AAG), using coagulation tests, immunoblot analysis, and allele-specific polymerase chain reaction.
Clinica chimica acta; international journal of clinical chemistry | 2000-05-01 | PMID 10767395
Terasawa F, Fujita K, Tozuka M and 3 more
Site-specific recombination in mammalian cells catalyzed by gammadelta resolvase mutants: implications for the topology of episomal DNA.
FEBS letters | 2000-04-14 | PMID 10767411
Schwikardi M, Dröge P
Functional conservation between yeast and plant endosomal Na(+)/H(+) antiporters.
FEBS letters | 2000-04-14 | PMID 10767428
Quintero F J, Blatt M R, Pardo J M
The dimer contact area of sorghum NADP-malate dehydrogenase: role of aspartate 101 in dimer stability and catalytic activity.
FEBS letters | 2000-04-14 | PMID 10767431
Schepens I, Decottignies P, Ruelland E and 2 more
Evidence that the glucoamylases and alpha-amylase secreted by Aspergillus niger are proteolytically processed products of a precursor enzyme.
FEBS letters | 2000-04-14 | PMID 10767433
Dubey A K, Suresh C, Kavitha R and 2 more
Detection of CFTR gene mutations in patients suffering from chronic bronchitis.
Archives of medical research | 2000-01-01 | PMID 10767489
Kostuch M, Semczuk A, Szarewicz-Adamczyk W and 3 more
Genes: CFTR
Genetic organization and heterogeneity of the iceA locus of Helicobacter pylori.
Gene | 2000-04-04 | PMID 10767527
Figueiredo C, Quint W G, Sanna R and 7 more
Cloning and characterization of zebrafish smad2, smad3 and smad4.
Gene | 2000-04-04 | PMID 10767528
Dick A, Mayr T, Bauer H and 2 more
Genetic and molecular analysis in the 70CD region of the third chromosome of Drosophila melanogaster.
Gene | 2000-04-04 | PMID 10767537
Burmester T, Mink M, Pál M and 3 more
Genes: PEX1
Characterization of ywhE, which encodes a putative high-molecular-weight class A penicillin-binding protein in Bacillus subtilis.
Gene | 2000-04-04 | PMID 10767540
Pedersen L B, Ragkousi K, Cammett T J and 5 more
p53 splice acceptor site mutation and increased HsRAD51 protein expression in Bloom's syndrome GM1492 fibroblasts.
Gene | 2000-04-04 | PMID 10767546
Magnusson K P, Sandström M, Ståhlberg M and 5 more
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.
Gene | 2000-04-04 | PMID 10767548
Scott D A, Drury S, Sundstrom R A and 9 more
Evolutionary relationships in Trypanosoma cruzi: molecular phylogenetics supports the existence of a new major lineage of strains.
Gene | 2000-04-04 | PMID 10767555
Robello C, Gamarro F, Castanys S and 1 more
Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene.
Gene | 2000-04-04 | PMID 10767557
White K E, Lorenz B, Evans W E and 3 more
Positive and negative elements mediate control of alternative splicing in the AMPD1 gene.
Gene | 2000-04-04 | PMID 10767559
Morisaki H, Morisaki T, Kariko K and 2 more
Genes: AMPD1
Isolation, characterization, and differential expression of the murine Sox-2 promoter.
Gene | 2000-04-04 | PMID 10767561
Wiebe M S, Wilder P J, Kelly D and 1 more
NBP1 (Nap1 binding protein 1), an essential gene for G2/M transition of Saccharomyces cerevisiae, encodes a protein of distinct sub-nuclear localization.
Gene | 2000-04-04 | PMID 10767562
Shimizu Y, Akashi T, Okuda A and 2 more
Effect of aging on cytokine production in normal and experimental systemic lupus erythematosus-afflicted mice.
Experimental gerontology | 2000-03-01 | PMID 10767581
Dayan M, Segal R, Globerson A and 3 more
Genes: TNF
Identification and characterization of mutants with increased expression of hilA, the invasion gene transcriptional activator of Salmonella typhimurium.
FEMS immunology and medical microbiology | 2000-05-01 | PMID 10767604
Fahlen T F, Mathur N, Jones B D
HIV-1 co-receptor CCR5 and CCR2 mutations among Greeks.
FEMS immunology and medical microbiology | 2000-05-01 | PMID 10767612
Papa A, Papadimitriou E, Adwan G and 5 more
Genes: CCR2, CCR5
Model-based spectral estimation of Doppler signals using parallel genetic algorithms.
Artificial intelligence in medicine | 2000-05-01 | PMID 10767617
Solano González J, Rodríguez Vázquez K, García Nocetti D F
Etheno-adduct-forming chemicals: from mutagenicity testing to tumor mutation spectra.
Mutation research | 2000-04-01 | PMID 10767618
Barbin A
Genes: ASL, LPO
DNA repair: counteragent in mutagenesis and carcinogenesis-- accomplice in cancer therapy resistance.
Mutation research | 2000-04-01 | PMID 10767621
Rajewsky M F, Engelbergs J, Thomale J and 1 more
Genes: AGT
Suppression of spontaneous mutagenesis in human cells by DNA base excision-repair.
Mutation research | 2000-04-01 | PMID 10767624
Lindahl T
The response of Parp knockout mice against DNA damaging agents.
Mutation research | 2000-04-01 | PMID 10767627
Masutani M, Nozaki T, Nakamoto K and 5 more
The ATM gene and breast cancer: is it really a risk factor?
Mutation research | 2000-04-01 | PMID 10767628
Angèle S, Hall J
Genes: ATM, BRCA1, BRCA2
Connexin gene mutations in human genetic diseases.
Mutation research | 2000-04-01 | PMID 10767631
Krutovskikh V, Yamasaki H
The yeast p53 functional assay: a new tool for molecular epidemiology. Hopes and facts.
Mutation research | 2000-04-01 | PMID 10767639
Fronza G, Inga A, Monti P and 8 more
Impact of polymorphisms in xeno(endo)biotic metabolism on pattern and frequency of p53 mutations in bladder cancer.
Mutation research | 2000-04-01 | PMID 10767640
Martone T, Vineis P, Malaveille C and 1 more
Genes: COMT, GSTP1, GSTM1, GSTT1, MPO, NAT2, NQO1
Molecular epidemiology and carcinogenesis: endogenous and exogenous carcinogens.
Mutation research | 2000-04-01 | PMID 10767641
Hussain S P, Harris C C
Molecular epidemiology of breast cancer: genetic variation in steroid hormone metabolism.
Mutation research | 2000-04-01 | PMID 10767642
Kristensen V N, Borresen-Dale A L
Genetic steps in the development of squamous cell carcinoma of the esophagus.
Mutation research | 2000-04-01 | PMID 10767643
Mandard A M, Hainaut P, Hollstein M
Genes: EGFR, MYC
Keratin 20 is a specific marker of submicroscopic lymph node metastases in colorectal cancer: validation by K-RAS mutations.
The Journal of pathology | 2000-05-01 | PMID 10767714
Yun K, Merrie A E, Gunn J and 2 more
Amniotic tissue in complete hydatidiform moles can be androgenetic.
The Journal of pathology | 2000-05-01 | PMID 10767721
Weaver D T, Fisher R A, Newlands E S and 1 more
Testing for hereditary breast and ovarian cancer in the southeastern United States.
Annals of surgery | 2000-05-01 | PMID 10767783
Miron A, Schildkraut J M, Rimer B K and 8 more
Genes: BRCA1, BRCA2
Gene trap insertional mutagenesis in mice: new vectors and germ line mutations in two novel genes.
Transgenic research | 1999-01-01 | PMID 10767988
Neilan E G, Barsh G S
Insulin sensitivity and insulin secretion in monozygotic and dizygotic twins.
Diabetologia | 2000-03-01 | PMID 10768089
Lehtovirta M, Kaprio J, Forsblom C and 3 more
Natural variants of human p85 alpha phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity.
Diabetologia | 2000-03-01 | PMID 10768093
Baynes K C, Beeton C A, Panayotou G and 7 more
Diabetes and pancreatic tumours in transgenic mice expressing Pa x 6.
Diabetologia | 2000-03-01 | PMID 10768094
Yamaoka T, Yano M, Yamada T and 6 more
Genes: PDX1
Different risk factors of microangiopathy in patients with type I diabetes mellitus of short versus long duration. The EURODIAB IDDM Complications Study.
Diabetologia | 2000-03-01 | PMID 10768096
Karamanos B, Porta M, Songini M and 6 more
Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients.
Diabetologia | 2000-03-01 | PMID 10768098
Price J A, Fossey S C, Sale M M and 4 more
Identification of polymorphic loci in the promoter region of the serotonin 5-HT2C receptor gene and their association with obesity and type II diabetes.
Diabetologia | 2000-03-01 | PMID 10768099
Yuan X, Yamada K, Ishiyama-Shigemoto S and 2 more
The horse homolog of congenital aniridia conforms to codominant inheritance.
The Journal of heredity | 2000-01-01 | PMID 10768120
Ewart S L, Ramsey D T, Xu J and 1 more
Single-locus complementary sex determination in Diadegma chrysostictos (Gmelin) (Hymenoptera: Ichneumonidae).
The Journal of heredity | 2000-01-01 | PMID 10768122
Butcher R D, Whitfield W G, Hubbard S F
Mitochondrial DNA differentiation in the critically endangered Berg River redfin (Pseudobarbus burgi).
The Journal of heredity | 2000-01-01 | PMID 10768125
Bloomer P, Impson N D
Mosaic: a position-effect variegation eye-color mutant in the mosquito Anopheles gambiae.
The Journal of heredity | 2000-01-01 | PMID 10768126
Benedict M Q, McNitt L M, Cornel A J and 1 more
Genetic differentiation and structure of Hippocrepis valentina (Leguminosae) populations.
The Journal of heredity | 2000-01-01 | PMID 10768127
González-Candelas F, Montolío A
Trait association of a genetic marker near the IGF-I gene in egg-laying chickens.
The Journal of heredity | 2000-01-01 | PMID 10768131
Nagaraja S C, Aggrey S E, Yao J and 3 more
Systematic implications of chromosomal data from two insular species of Peromyscus from the Gulf of California.
The Journal of heredity | 2000-01-01 | PMID 10768134
Smith L R, Hale D W, Greenbaum I F
The Rift Valley complex as a barrier to gene flow for Anopheles gambiae in Kenya: the mtDNA perspective.
The Journal of heredity | 2000-01-01 | PMID 10768135
Lehmann T, Blackston C R, Besansky N J and 3 more
Polymorphism of alpha 1-antitrypsin in North American species of Canis.
The Journal of heredity | 2000-01-01 | PMID 10768138
Federoff N E, Kueppers F
Genetics of systemic lupus erythematosus. Clinical implications.
Rheumatic diseases clinics of North America | 2000-05-01 | PMID 10768211
Sullivan K E
A study of sequential histopathology of Trypanoplasma borreli (Protozoa: Kinetoplastida) in susceptible common carp Cyprinus carpio.
Diseases of aquatic organisms | 2000-02-09 | PMID 10768290
Bunnajirakul S, Steinhagen D, Hetzel U and 2 more
Microbial ecology and treatment of Helicobacter pylori infections: review.
Journal of chemotherapy (Florence, Italy) | 2000-02-01 | PMID 10768510
Adamsson I, Edlund C, Nord C E
Genes: OCM
Genetic and clinical aspects of familial renal neoplasms.
Seminars in oncology | 2000-04-01 | PMID 10768593
Iliopoulos O, Eng C
Genes: MET, VHL
A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease.
Archives of neurology | 2000-04-01 | PMID 10768621
Ezquerra M, Carnero C, Blesa R and 1 more
The alpha-synuclein gene and Parkinson disease in a Chinese population.
Archives of neurology | 2000-04-01 | PMID 10768624
Chan D K, Mellick G, Cai H and 5 more
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
Archives of neurology | 2000-04-01 | PMID 10768629
Tang B, Liu C, Shen L and 5 more
A family study of obsessive-compulsive disorder.
Archives of general psychiatry | 2000-04-01 | PMID 10768697
Nestadt G, Samuels J, Riddle M and 6 more
Microsatellite structures in the context of human evolution.
Electrophoresis | 2000-03-01 | PMID 10768773
Wiegand P, Meyer E, Brinkmann B
Absence of H- and K-ras oncogene mutations in sporadic medullary thyroid carcinoma.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association | 2000-01-01 | PMID 10768832
Bockhorn M, Frilling A, Kalinin V and 2 more
Genes: RET
Decreased expression of corticotropin-releasing factor-binding protein mRNA in ACTH-secreting pituitary adenomas.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association | 2000-01-01 | PMID 10768834
Dieterich K D, Lehnert H
Genes: GAPDH
Role of the basic helix-loop-helix transcription factor p48 in the differentiation phenotype of exocrine pancreas cancer cells.
Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research | 2000-03-01 | PMID 10768861
Adell T, Gómez-Cuadrado A, Skoudy A and 3 more
The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis.
Japanese journal of clinical oncology | 2000-02-01 | PMID 10768871
Enomoto M, Konishi M, Iwama T and 3 more
Genes: APC, FAP
Effects of Enterococcus faecalis fsr genes on production of gelatinase and a serine protease and virulence.
Infection and immunity | 2000-05-01 | PMID 10768947
Qin X, Singh K V, Weinstock G M and 1 more
Evaluation of an isogenic major outer membrane protein-deficient mutant in the human model of Haemophilus ducreyi infection.
Infection and immunity | 2000-05-01 | PMID 10768950
Throm R E, Al-Tawfiq J A, Fortney K R and 5 more
Genes: OMP
Functional flexibility of the FimH adhesin: insights from a random mutant library.
Infection and immunity | 2000-05-01 | PMID 10768955
Schembri M A, Sokurenko E V, Klemm P
The flagellar sigma factor FliA (sigma(28)) regulates the expression of Salmonella genes associated with the centisome 63 type III secretion system.
Infection and immunity | 2000-05-01 | PMID 10768967
Eichelberg K, Galán J E
Characterization of ferrochelatase (hemH) mutations in Haemophilus influenzae.
Infection and immunity | 2000-05-01 | PMID 10769004
Schlör S, Herbert M, Rodenburg M and 2 more
Molecular epidemiological and phylogenetic associations of two novel putative virulence genes, iha and iroN(E. coli), among Escherichia coli isolates from patients with urosepsis.
Infection and immunity | 2000-05-01 | PMID 10769012
Johnson J R, Russo T A, Tarr P I and 4 more
High genetic variability of the group-specific a-determinant of hepatitis B virus surface antigen (HBsAg) and the corresponding fragment of the viral polymerase in chronic virus carriers lacking detectable HBsAg in serum.
The Journal of general virology | 2000-05-01 | PMID 10769057
Weinberger K M, Bauer T, Böhm S and 1 more