Abstract:
:An attenuated form of familial adenomatous polyposis coli, AAPC, causes relatively few colonic polyps, but still carries a significant risk of colon cancer. The mutant alleles responsible for this attenuated phenotype have been mapped in several families to the adenomatous polyposis coli (APC) locus on human chromosome 5q. Four distinct mutations in the APC gene have now been identified in seven AAPC families. These mutations that predict truncation products, either by single base pair changes or frameshifts, are similar to mutations identified in families with classical APC. However, they differ in that the four mutated sites are located very close to one another and nearer the 5' end of the APC gene than any base substitutions or small deletions yet discovered in patients with classical APC.
journal_name
Celljournal_title
Cellauthors
Spirio L,Olschwang S,Groden J,Robertson M,Samowitz W,Joslyn G,Gelbert L,Thliveris A,Carlson M,Otterud Bdoi
10.1016/0092-8674(93)90538-2subject
Has Abstract,Author List Incompletepub_date
1993-12-03 00:00:00pages
951-7issue
5eissn
0092-8674issn
1097-4172pii
0092-8674(93)90538-2journal_volume
75pub_type
杂志文章相关文献
CELL文献大全abstract::Two independent approaches to understanding the molecular mechanism of cytokinesis have converged on the gene spaghetti-squash (sqh). A genetic screen for mitotic mutants identified sqh1, a mutation that disrupts cytokinesis, which was then cloned by transposon tagging. Independently, the gene that encodes the regulat...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(91)90013-o
更新日期:1991-06-28 00:00:00
abstract::White adipose tissue (WAT) serves as the primary energy depot in the body by storing fat. During development, fat cell precursors (i.e., preadipocytes) undergo a hypertrophic response as they mature into lipid-laden adipocytes. However, the mechanisms that regulate adipocyte size and mass remain undefined. Herein, we ...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/j.cell.2006.02.050
更新日期:2006-05-05 00:00:00
abstract::The mouse kreisler (kr) mutation causes segmentation abnormalities in the caudal hindbrain and defective inner ear development. Based on an inversion discovered in the original kr allele, we selected a candidate cDNA highly expressed in the developing caudal hindbrain. This cDNA encodes a basic domain-leucine zipper (...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(94)90033-7
更新日期:1994-12-16 00:00:00
abstract::Kit/SCF signaling and Mitf-dependent transcription are both essential for melanocyte development and pigmentation. To identify Mitf-dependent Kit transcriptional targets in primary melanocytes, microarray studies were undertaken. Among identified targets was BCL2, whose germline deletion produces melanocyte loss and w...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/s0092-8674(02)00762-6
更新日期:2002-06-14 00:00:00
abstract::Ischemia-associated oxidative damage leading to necrosis is a major cause of catastrophic tissue loss, and elucidating its signaling mechanism is therefore of paramount importance. p53 is a central stress sensor responding to multiple insults, including oxidative stress to orchestrate apoptotic and autophagic cell dea...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/j.cell.2012.05.014
更新日期:2012-06-22 00:00:00
abstract::This year, the Albert Lasker Basic Medical Research Award will be shared by Michael Sheetz, James Spudich, and Ronald Vale for discoveries concerning the biophysical actions of cytoskeletal motor-protein machines that move cargo within cells, contract muscles, and enable cell motility. ...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/j.cell.2012.08.031
更新日期:2012-09-14 00:00:00
abstract::Ku is a heterodimeric DNA end binding complex composed of 70 and 86 kDa subunits. Here, we show that Ku86 is essential for normal V(D)J recombination in vivo, as Ku86-deficient mice are severely defective for formation of coding joints. Unlike severe combined immunodeficient (scid) mice, Ku86-deficient mice are also d...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/s0092-8674(00)80111-7
更新日期:1996-08-09 00:00:00
abstract::Activation of the transcription factor NF-kappaB by tumor necrosis factor (TNF) and interleukin-1 (IL-1) requires the NF-kappaB-inducing kinase (NIK). In a yeast two-hybrid screen for NIK-interacting proteins, we have identified a protein kinase previously known as CHUK. Overexpression of CHUK activates a NF-kappaB-de...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/s0092-8674(00)80344-x
更新日期:1997-07-25 00:00:00
abstract::ATP increases microtubule steady state assembly and disassembly rates in vitro in a concentration-dependent manner. Bovine brain microtubules, composed of 75% tubulin and 25% high molecular weight microtubule-associated proteins (MAPs), were purified by three cycles of assembly and disassembly in the absence of ATP. W...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(79)90122-3
更新日期:1979-11-01 00:00:00
abstract::Inward rectifier K+ channels mediate the K+ conductance at resting potential in many types of cell. Since these K+ channels do not pass outward currents (inward rectification) when the cell membrane is depolarized beyond a trigger threshold, they play an important role in controlling excitability. Both a highly voltag...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(95)90459-x
更新日期:1995-01-13 00:00:00
abstract::Mutations at the mouse tottering (tg) locus cause a delayed-onset, recessive neurological disorder resulting in ataxia, motor seizures, and behavioral absence seizures resembling petit mal epilepsy in humans. A more severe allele, leaner (tg(la)), also shows a slow, selective degeneration of cerebellar neurons. By pos...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/s0092-8674(00)81381-1
更新日期:1996-11-15 00:00:00
abstract::Transcription termination by bacterial RNA polymerase (RNAP) occurs at sequences coding for a GC-rich RNA hairpin followed by a U-rich tract. We used single-molecule techniques to investigate the mechanism by which three representative terminators (his, t500, and tR2) destabilize the elongation complex (EC). For his a...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/j.cell.2008.01.027
更新日期:2008-03-21 00:00:00
abstract::The mammalian alpha- and beta--globin genes are thought to have evolved from a common ancestral sequence by a duplication event that occurred over 500 million years ago. We have now determined the entire nucleotide sequence of a cloned mouse alpha--globin gene, including regions that flank and interrupt the coding seq...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(79)90139-9
更新日期:1979-11-01 00:00:00
abstract::The Bcl-2 family member Bax translocates from the cytosol to mitochondria, where it oligomerizes and permeabilizes the mitochondrial outer membrane to promote apoptosis. Bax activity is counteracted by prosurvival Bcl-2 proteins, but how they inhibit Bax remains controversial because they neither colocalize nor form s...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/j.cell.2011.02.034
更新日期:2011-04-01 00:00:00
abstract::5, 6-dichloro-1-beta-D-ribofuranosylbenzimidazole (DRB; 75 muM) inhibited only 60-75% of nuclear heterogeneous RNA (hnRNA) synthesis in HeLa cells, while the appearance of labeled cytoplasmic poly(A)-containing messenger RNA (mRNA) was reduced by approximately 95%. DRB-sensitive and resistant transcripts spanned the e...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(76)90092-1
更新日期:1976-11-01 00:00:00
abstract::During aging, stromal functions are thought to be impaired, but little is known whether this stems from changes of fibroblasts. Using population- and single-cell transcriptomics, as well as long-term lineage tracing, we studied whether murine dermal fibroblasts are altered during physiological aging under different di...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/j.cell.2018.10.012
更新日期:2018-11-29 00:00:00
abstract::We have investigated whether histone H1 is present on active Balbiani ring genes in the salivary glands of Chironomus tentans using immunoelectron microscopy. The genes were studied in two activity states: maximally activated genes with a fully extended template and repressed genes in a 30 nm fiber conformation. Histo...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(90)90717-s
更新日期:1990-01-12 00:00:00
abstract::Suppressor of Hairless [Su(H)]/Lag-1/RBP-Jkappa/CBF1 is the only known transducing transcription factor for Notch receptor signaling. Here, we show that Su(H) has three distinct functions in the development of external mechanosensory organs in Drosophila: Notch-dependent transcriptional activation and a novel auto-rep...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/s0092-8674(00)00198-7
更新日期:2000-12-08 00:00:00
abstract::Nontransformed pre-B cells were induced to differentiate in vitro along several different but predictable pathways with only dendritic cells (DC) and concanavalin A-stimulated T lymphocytes. DC-T from spleen induced secretion of only IgM, whereas DC-T from Peyer's patches induced high levels of IgA and intermediate le...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(86)90472-1
更新日期:1986-02-14 00:00:00
abstract::Yeast heat shock protein 104 (Hsp104), the only known eukaryotic disaggregase, remodels both disordered protein aggregates and cross-β sheet amyloids. To handle this diverse clientele, DeSantis et al. report that Hsp104 hexamers use distinct mechanisms-individual subunits are able to dissolve disordered aggregates, bu...
journal_title:Cell
pub_type: 评论,杂志文章
doi:10.1016/j.cell.2012.10.033
更新日期:2012-11-09 00:00:00
abstract::DMC1 is a new meiosis-specific yeast gene. Dmc1 protein is structurally similar to bacterial RecA proteins. dmc1 mutants are defective in reciprocal recombination, accumulate double-strand break (DSB) recombination intermediates, fail to form normal synaptonemal complex (SC), and arrest late in meiotic prophase. dmc1 ...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(92)90446-j
更新日期:1992-05-01 00:00:00
abstract::Mutations in four nuclear genes, kar1 cdc4, 28, and 37, block or impair nuclear fusion during conjugation of Saccharomyces cerevisiae. Mutations in all four genes are recessive for the caryogamy defect; in matings between diploid cells both of which are heterozygous for any one of the four mutations (-/+ X -/+), caryo...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(83)90349-5
更新日期:1983-05-01 00:00:00
abstract::We have compared the chromatin structure in the active and inactive states at loci encoding the major heat shock protein in Drosophila. DNAase I and micrococcal nuclease were used as probes of higher order organization and nucleosomal integrity. Such integrity is gauged here by the characteristic pattern of discrete D...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(79)90096-5
更新日期:1979-04-01 00:00:00
abstract::Embryonal carcinoma cells derived from murine teratocarcinomas are able to differentiate into the same variety of tissue types as early embryonic cells. Because embryonal carcinoma cells resemble those of the embryo at a stage before X chromosome inactivation has occurred in females embryonal carcinoma cells containin...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(76)90052-0
更新日期:1976-09-01 00:00:00
abstract::A single mouse blastomere from an embryo until the 8-cell stage can generate an entire blastocyst. Whether laboratory-cultured cells retain a similar generative capacity remains unknown. Starting from a single stem cell type, extended pluripotent stem (EPS) cells, we established a 3D differentiation system that enable...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/j.cell.2019.09.029
更新日期:2019-10-17 00:00:00
abstract::The JAK/STAT signaling pathway, renowned for its effects on cell proliferation and survival, is constitutively active in various human cancers, including ovarian. We have found that JAK and STAT are required to convert the border cells in the Drosophila ovary from stationary, epithelial cells to migratory, invasive ce...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/s0092-8674(01)00607-9
更新日期:2001-12-28 00:00:00
abstract::Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. Cells from NBS patients are hypersensitive to ionizing radiation with cytogenetic features indistinguishable from ataxia telangiect...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/s0092-8674(00)81174-5
更新日期:1998-05-01 00:00:00
abstract::An examination of Abelson murine leukemia virus (A-MuL V)-hematopoietic cell interaction in cultures of fetal tissues reveals that A-MuLV can stimulate the formation of two different types of colonies. One type of colony is white and composed of A-MuLV-transformed lymphoid cells that can develop into established cell ...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(81)90035-0
更新日期:1981-10-01 00:00:00
abstract::The HIV auxiliary protein Vpr potently blocks the cell cycle at the G2/M transition. Here, we show that G2/M arrest results from untimely activation of the structure-specific endonuclease (SSE) regulator SLX4 complex (SLX4com) by Vpr, a process that requires VPRBP-DDB1-CUL4 E3-ligase complex. Direct interaction of Vpr...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/j.cell.2013.12.011
更新日期:2014-01-16 00:00:00
abstract::Long chain fatty acids (LCFAs) are an important energy substrate used by cardiac myocytes and other cells, but the mechanism whereby these molecules cross the plasma membrane is poorly understood. We used an expression cloning strategy and a cDNA library from 3T3-L1 adipocytes to identify a cDNA that, when expressed i...
journal_title:Cell
pub_type: 杂志文章
doi:10.1016/0092-8674(94)90252-6
更新日期:1994-11-04 00:00:00