Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote.
The Journal of investigative dermatology | 1997-09-01 | PMID 9284105
Hu Z L, Smith L, Martins S and 3 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 889 of 10600
A combination of a common splice site mutation and a frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin.
The Journal of investigative dermatology | 1997-09-01 | PMID 9284109
Hammami-Hauasli N, Kalinke D U, Schumann H and 7 more
Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein.
The Journal of investigative dermatology | 1997-09-01 | PMID 9284110
Christiano A M, Amano S, Eichenfield L F and 2 more
Evolutionary genetics of Pasteurella haemolytica isolates recovered from cattle and sheep.
Infection and immunity | 1997-09-01 | PMID 9284123
Davies R L, Arkinsaw S, Selander R K
Genes: OMP
Virulence plasmid instability in Shigella flexneri 2a is induced by virulence gene expression.
Infection and immunity | 1997-09-01 | PMID 9284138
Schuch R, Maurelli A T
Allelic variation in Streptococcus pneumoniae autolysin (N-acetyl muramoyl-L-alanine amidase).
Infection and immunity | 1997-09-01 | PMID 9284174
Gillespie S H, McHugh T D, Ayres H and 3 more
Fc gammaRIIa polymorphism in human immunodeficiency virus-infected children with invasive pneumococcal disease.
Pediatric research | 1997-09-01 | PMID 9284262
Abadi J, Zhong Z, Dobroszycki J and 1 more
Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria.
Pediatric research | 1997-09-01 | PMID 9284280
Weglage J, Ullrich K, Pietsch M and 3 more
Interaction of tryptamine and ergoline compounds with threonine 196 in the ligand binding site of the 5-hydroxytryptamine6 receptor.
Molecular pharmacology | 1997-09-01 | PMID 9284367
Boess F G, Monsma F J, Meyer V and 2 more
Host genes and HIV: the role of the chemokine receptor gene CCR5 and its allele.
Emerging infectious diseases | 2000-01-01 | PMID 9284370
McNicholl J M, Smith D K, Qari S H and 1 more
Genes: CCR5
[Genetically engineered mice for study of human hypertension].
Nihon rinsho. Japanese journal of clinical medicine | 1997-08-01 | PMID 9284415
Sugiyama F, Taniguchi K, Fukamizu A and 1 more
Heterogeneity of papillomaviruses.
Seminars in cancer biology | 1996-12-01 | PMID 9284527
Myers G, Lu H, Calef C and 1 more
Highly polymorphic microsatellite loci in the colonial ascidian Botryllus schlosseri.
Molecular marine biology and biotechnology | 1997-09-01 | PMID 9284556
Stoner D S, Quattro J M, Weissman I L
Conservation of the myoglobin gene among Antarctic notothenioid fishes.
Molecular marine biology and biotechnology | 1997-09-01 | PMID 9284559
Vayda M E, Small D J, Yuan M L and 2 more
Molecular phylogenetics of bacterial endosymbionts and their vestimentiferan hosts.
Molecular marine biology and biotechnology | 1997-09-01 | PMID 9284565
Feldman R A, Black M B, Cary C S and 2 more
[Pterygium and mast cells--mast cell number, phenotype, and localization of stem cell factor].
Nippon Ganka Gakkai zasshi | 1997-08-01 | PMID 9284622
Nakagami T, Murakami A, Okisaka S and 1 more
Pulmonary function values in Friesian and double-muscled calves during acute poikilocapnic hypoxia.
Zentralblatt fur Veterinarmedizin. Reihe A | 1997-04-01 | PMID 9284633
Rollin F, Amory H, Desmecht D and 4 more
Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation.
The Journal of clinical endocrinology and metabolism | 1997-09-01 | PMID 9284704
Smith M L, Hua X Y, Marsden D L and 4 more
Association between vitamin D receptor gene polymorphism and sex-dependent growth during the first two years of life.
The Journal of clinical endocrinology and metabolism | 1997-09-01 | PMID 9284728
Suarez F, Zeghoud F, Rossignol C and 2 more
Genes: VDR
Infrequent mutations of p27Kip1 gene and trisomy 12 in a subset of human pituitary adenomas.
The Journal of clinical endocrinology and metabolism | 1997-09-01 | PMID 9284759
Tanaka C, Yoshimoto K, Yang P and 5 more
Mutations in the vitamin D receptor gene in three kindreds associated with hereditary vitamin D resistant rickets.
The Journal of clinical endocrinology and metabolism | 1997-09-01 | PMID 9284761
Cockerill F J, Hawa N S, Yousaf N and 3 more
Genes: VDR
Pathogenesis of SIV encephalitis. Selection and replication of neurovirulent SIV.
The American journal of pathology | 1997-09-01 | PMID 9284828
Zink M C, Amedee A M, Mankowski J L and 6 more
Molecular genetic analysis of giant cell glioblastomas.
The American journal of pathology | 1997-09-01 | PMID 9284834
Meyer-Puttlitz B, Hayashi Y, Waha A and 6 more
Genes: EGFR, CDK4
Diabetes mellitus associated with the 3243 mitochondrial tRNA(Leu)(UUR) mutation: insulin secretion and sensitivity.
Metabolism: clinical and experimental | 1997-09-01 | PMID 9284890
Suzuki Y, Iizuka T, Kobayashi T and 9 more
Development of diagnostic tools for the analysis of 5p deletions using interphase FISH.
Cytogenetics and cell genetics | 1997-01-01 | PMID 9284926
Gersh M, Grady D, Rojas K and 3 more
Comparative genomic hybridization analysis of Wilms tumors.
Cytogenetics and cell genetics | 1997-01-01 | PMID 9284942
Steenman M, Redeker B, de Meulemeester M and 5 more
Up-regulation of Ca2+ influx mediated by store-operated channels in HL60 cells induced to differentiate by 1 alpha,25-dihydroxyvitamin D3.
Journal of cellular physiology | 1997-09-01 | PMID 9284948
Gardner J P, Balasubramanyam M, Studzinski G P
Structural and functional analysis of deficient mutants in subunit I of cytochrome c oxidase from Saccharomyces cerevisiae.
Biochimica et biophysica acta | 1997-07-31 | PMID 9284958
Ortwein C, Link T A, Meunier B and 3 more
Studies on the composition and properties of thermophilic Bacillus populations in subterranean thermal waters of Budapest (Hungary).
Acta microbiologica et immunologica Hungarica | 1997-01-01 | PMID 9284974
Martin A M
Variants of chromosome 9 in phenotypically normal individuals.
Annals of the Academy of Medicine, Singapore | 1997-05-01 | PMID 9285024
Cheong K F, Knight L A, Tan M and 1 more
Influence of polymorphisms of GSTM1 and GSTT1 for risk of renal cell cancer in workers with long-term high occupational exposure to trichloroethene.
Archives of toxicology | 1997-01-01 | PMID 9285043
Brüning T, Lammert M, Kempkes M and 3 more
Genes: GSTT1, GSTM1
Autolytic site mutant R105C of rat trypsin.
Biochemistry and molecular biology international | 1997-08-01 | PMID 9285067
Li X F, Tang J G, Zhang L X
Lack of evidence for a major locus for bipolar disorder in the pericentromeric region of chromosome 18 in Irish pedigrees.
Biological psychiatry | 1997-09-15 | PMID 9285084
Mynett-Johnson L A, Murphy V E, Manley P and 2 more
Does long-term angiotensin converting enzyme inhibition affect the concentration of tissue-type plasminogen activator-plasminogen activator inhibitor-1 in the blood of patients with a previous myocardial infarction.
Coronary artery disease | 1997-05-01 | PMID 9285181
Pedersen O D, Gram J, Jeunemaitre X and 2 more
Genes: ACE
Thyrotropin (TSH) beta-subunit gene expression--an example for the complex regulation of pituitary hormone genes.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association | 1997-01-01 | PMID 9285205
Steinfelder H J, Wondisford F E
Study on the mechanism of immunopotentiating antitumor effect of 6-MPG, a water-soluble derivative of 6-mercaptopurine.
Immunopharmacology | 1997-08-01 | PMID 9285248
Kashida T, Narasaki N, Sakai A and 4 more
Genes: MPG
Intestinal permeability in cystic fibrosis in relation to genotype.
Journal of pediatric gastroenterology and nutrition | 1997-09-01 | PMID 9285379
Hallberg K, Grzegorczyk A, Larson G and 1 more
Spermine induces maturation of the immature intestinal immune system in neonatal mice.
Journal of pediatric gastroenterology and nutrition | 1997-09-01 | PMID 9285387
ter Steege J C, Buurman W A, Forget P P
Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.
Developmental medicine and child neurology | 1997-07-01 | PMID 9285441
Ho H H, Eaves L C
Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation.
Journal of neurology, neurosurgery, and psychiatry | 1997-08-01 | PMID 9285466
Tranchant C, Sergeant N, Wattez A and 3 more
Millimeter wave-induced vibrational modes in DNA as a possible alternative to animal tests to probe for carcinogenic mutations.
Journal of applied toxicology : JAT | 2000-01-01 | PMID 9285537
Woolard D L, Koscica T, Rhodes D L and 8 more
Induction of apoptosis in Mv1Lu cells by expression of competitive RB1 mutants.
Oncogene | 1997-08-28 | PMID 9285561
Whitaker L L, Hansen M F
Identification of an additional p53-responsive site in the human epidermal growth factor receptor gene promotor.
Oncogene | 1997-08-28 | PMID 9285564
Sheikh M S, Carrier F, Johnson A C and 2 more
Genes: EGF
Comparative mutational analysis of DPC4 (Smad4) in prostatic and colorectal carcinomas.
Oncogene | 1997-08-28 | PMID 9285566
MacGrogan D, Pegram M, Slamon D and 1 more
Developmental regulation of MHC class II transport in mouse dendritic cells.
Nature | 1997-08-21 | PMID 9285592
Pierre P, Turley S J, Gatti E and 6 more
Distinct actions of cis and trans ATP within the double ring of the chaperonin GroEL.
Nature | 1997-08-21 | PMID 9285593
Rye H S, Burston S G, Fenton W A and 4 more
Genes: PNP
DNA renaturation activity of the SMC complex implicated in chromosome condensation.
Nature | 1997-08-21 | PMID 9285594
Sutani T, Yanagida M
Association of PTP-PEST with the SH3 domain of p130cas; a novel mechanism of protein tyrosine phosphatase substrate recognition.
Oncogene | 1997-08-18 | PMID 9285683
Garton A J, Burnham M R, Bouton A H and 1 more
The polyproline region of p53 is required to activate apoptosis but not growth arrest.
Oncogene | 1997-08-18 | PMID 9285684
Sakamuro D, Sabbatini P, White E and 1 more
Genes: BAX
Cell death: fatal induction in plants.
Current biology : CB | 1997-09-01 | PMID 9285704
Martienssen R
Strategems in vitro for gene therapies directed to dominant mutations.
Human molecular genetics | 1997-09-01 | PMID 9285777
Millington-Ward S, O'Neill B, Tuohy G and 9 more
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.
Human molecular genetics | 1997-09-01 | PMID 9285778
Foucault F, Vaury C, Barakat A and 5 more
Genes: BLM
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
Human molecular genetics | 1997-09-01 | PMID 9285782
Janata J, Kogekar N, Fenton W A
Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family.
Human molecular genetics | 1997-09-01 | PMID 9285788
Swensen J, Hoffman M, Skolnick M H and 1 more
Genes: BRCA1
Human minisatellite MS32 (D1S8) displays somatic but not germline instability in transgenic mice.
Human molecular genetics | 1997-09-01 | PMID 9285795
Bois P, Collick A, Brown J and 1 more
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Human molecular genetics | 1997-09-01 | PMID 9285796
Weber B, Guo X H, Wraith J E and 4 more
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
Human molecular genetics | 1997-09-01 | PMID 9285800
Zelante L, Gasparini P, Estivill X and 12 more
Genes: GJB2
Yeast actin cytoskeleton mutants accumulate a new class of Golgi-derived secretary vesicle.
Molecular biology of the cell | 1997-08-01 | PMID 9285820
Mulholland J, Wesp A, Riezman H and 1 more
Genes: SLA2
Three determinants in ezrin are responsible for cell extension activity.
Molecular biology of the cell | 1997-08-01 | PMID 9285824
Martin M, Roy C, Montcourrier P and 2 more
George M. Cober Lecturer: Mark T. Keating. Molecular basis of the long-QT syndrome associated with deafness.
Proceedings of the Association of American Physicians | 1997-09-01 | PMID 9285950
Splawski I, Timothy K W, Vincent G M and 2 more
Schizophrenia, chronic hospitalization and the 5-HT2C receptor gene.
Psychiatric genetics | 1997-01-01 | PMID 9285964
Segman R H, Ebstein R P, Heresco-Levy U and 5 more
Ciliary neurotrophic factor null mutation and schizophrenia in a Swedish population.
Psychiatric genetics | 1997-01-01 | PMID 9285965
Thome J, Jönsson E, Foley P and 3 more
Association between schizophrenia and a microsatellite polymorphism at the dopamine D5 receptor gene.
Psychiatric genetics | 1997-01-01 | PMID 9285966
Williams N M, Cardno A G, Murphy K C and 4 more
Alcoholism and gene polymorphisms related to central dopaminergic transmission in the Japanese population.
Psychiatric genetics | 1997-01-01 | PMID 9285967
Dobashi I, Inada T, Hadano K
Outer membrane vesicle vaccines made from short-chain lipopolysaccharide mutants of serogroup B Neisseria meningitidis: effect of the carbohydrate chain length on the immune response.
Vaccine | 1997-08-01 | PMID 9286048
Andersen S R, Bjune G, Høiby E A and 4 more
Genes: OMP
Molecular biology of Mycoplasma.
Wiener klinische Wochenschrift | 1997-08-08 | PMID 9286059
Christiansen G, Jensen L T, Boesen T and 4 more
Mycoplasma genetic variation and its implication for pathogenesis.
Wiener klinische Wochenschrift | 1997-08-08 | PMID 9286060
Citti C, Rosengarten R
The ABSCISIC ACID-INSENSITIVE3, FUSCA3, and LEAFY COTYLEDON1 loci act in concert to control multiple aspects of Arabidopsis seed development.
The Plant cell | 1997-08-01 | PMID 9286105
Parcy F, Valon C, Kohara A and 2 more
Genes: ABI3
A gene fusion at a homeobox locus: alterations in leaf shape and implications for morphological evolution.
The Plant cell | 1997-08-01 | PMID 9286107
Chen J J, Janssen B J, Williams A and 1 more
A deletion in the PHYD gene of the Arabidopsis Wassilewskija ecotype defines a role for phytochrome D in red/far-red light sensing.
The Plant cell | 1997-08-01 | PMID 9286109
Aukerman M J, Hirschfeld M, Wester L and 4 more
FPF1 promotes flowering in Arabidopsis.
The Plant cell | 1997-08-01 | PMID 9286110
Kania T, Russenberger D, Peng S and 2 more
Role of the proline knot motif in oleosin endoplasmic reticulum topology and oil body targeting.
The Plant cell | 1997-08-01 | PMID 9286116
Abell B M, Holbrook L A, Abenes M and 3 more
Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency.
Investigative ophthalmology & visual science | 1997-08-01 | PMID 9286267
Cideciyan A V, Pugh E N, Lamb T D and 2 more
Proliferative responses to PHA, anti-CD3 and antigens in patients with lymphoproliferative disease of granular lymphocytes. Mannoproteins of Candida albicans induce proliferation and cytotoxicity.
Acta haematologica | 1997-01-01 | PMID 9286301
Giovannetti A, Quinti I, Rainaldi L and 8 more
Dendritic-like cells from relB mutant mice.
Advances in experimental medicine and biology | 1997-01-01 | PMID 9286336
DiMolfetto L, Reilly C, Wei Q and 1 more
Regulation of CD44 isoform expression and CD44-mediated signaling in human dendritic cells.
Advances in experimental medicine and biology | 1997-01-01 | PMID 9286342
Haegel-Kronenberger H, de la Salle H, Bohbot A and 4 more
Genes: TNF
CD14 is expressed by subsets of murine dendritic cells and upregulated by lipopolysaccharide.
Advances in experimental medicine and biology | 1997-01-01 | PMID 9286353
Mahnke K, Becher E, Ricciardi-Castagnoli P and 3 more
The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
American journal of medical genetics | 1997-09-05 | PMID 9286441
Matsuda I, Tanase S
Genes: OTC
Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.
American journal of medical genetics | 1997-09-05 | PMID 9286460
Courtens W, Speleman F, Messiaen L and 3 more
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.
American journal of medical genetics | 1997-09-05 | PMID 9286463
Arch E M, Goodman B K, Van Wesep R A and 5 more
Genes: PTEN
CYP2D6 polymorphism is not associated with essential tremor.
European neurology | 1997-01-01 | PMID 9286632
Agúndez J A, Jiménez-Jiménez F J, Tejeda R and 10 more
Mating in Saccharomyces cerevisiae: the role of the pheromone signal transduction pathway in the chemotropic response to pheromone.
Genetics | 1997-09-01 | PMID 9286665
Schrick K, Garvik B, Hartwell L H
Characterization of synthetic-lethal mutants reveals a role for the Saccharomyces cerevisiae guanine-nucleotide exchange factor Cdc24p in vacuole function and Na+ tolerance.
Genetics | 1997-09-01 | PMID 9286667
White W H, Johnson D I
Genes: CDC42
In vivo analysis of Saccharomyces cerevisiae COX2 mRNA 5'-untranslated leader functions in mitochondrial translation initiation and translational activation.
Genetics | 1997-09-01 | PMID 9286670
Dunstan H M, Green-Willms N S, Fox T D
The prp1+ gene required for pre-mRNA splicing in Schizosaccharomyces pombe encodes a protein that contains TPR motifs and is similar to Prp6p of budding yeast.
Genetics | 1997-09-01 | PMID 9286671
Urushiyama S, Tani T, Ohshima Y
Genes: TPR
Overlapping functions for two G protein alpha subunits in Neurospora crassa.
Genetics | 1997-09-01 | PMID 9286674
Baasiri R A, Lu X, Rowley P S and 2 more
Inbreeding depression and inferred deleterious-mutation parameters in Daphnia.
Genetics | 1997-09-01 | PMID 9286675
Deng H W, Lynch M
Epistasis in measured genotypes: Drosophila P-element insertions.
Genetics | 1997-09-01 | PMID 9286676
Clark A G, Wang L
Divergence of the yellow gene between Drosophila melanogaster and D. subobscura: recombination rate, codon bias and synonymous substitutions.
Genetics | 1997-09-01 | PMID 9286677
Munté A, Aguadé M, Segarra C
A functional analysis of Notch mutations in Drosophila.
Genetics | 1997-09-01 | PMID 9286678
Brennan K, Tateson R, Lewis K and 1 more
Evolutionary history of the sex-peptide (Acp70A) gene region in Drosophila melanogaster.
Genetics | 1997-09-01 | PMID 9286679
Cirera S, Aguadé M
Polymorphism and divergence at a Drosophila pseudogene locus.
Genetics | 1997-09-01 | PMID 9286680
Pritchard J K, Schaeffer S W
Reproductive isolation and morphogenetic evolution in Drosophila analyzed by breakage of ethological barriers.
Genetics | 1997-09-01 | PMID 9286683
Sánchez L, Santamaria P
The genes raw and ribbon are required for proper shape of tubular epithelial tissues in Drosophila.
Genetics | 1997-09-01 | PMID 9286684
Jack J, Myette G
The Y-chromosomal and autosomal male-determining M factors of Musca domestica are equivalent.
Genetics | 1997-09-01 | PMID 9286686
Schmidt R, Hediger M, Roth S and 2 more
Mutation-selection balance under genomic imprinting at an autosomal locus.
Genetics | 1997-09-01 | PMID 9286687
Spencer H G
Mu element-generated gene conversions in maize attenuate the dominant knotted phenotype.
Genetics | 1997-09-01 | PMID 9286690
Mathern J, Hake S
Dissection of a synthesized quantitative trait to characterize transgene interactions.
Genetics | 1997-09-01 | PMID 9286691
Nap J P, Conner A J, Mlynárová L and 2 more
Clusters of identical new mutations can account for the "overdispersed" molecular clock.
Genetics | 1997-09-01 | PMID 9286693
Huai H, Woodruff R C
Neurturin, a novel neurotrophic factor, is localized to mouse chromosome 17 and human chromosome 19p13.3.
Genomics | 1997-08-15 | PMID 9286710
Heuckeroth R O, Kotzbauer P, Copeland N G and 6 more
Genes: GDNF