Abstract：
:X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. A virtually identical phenotype is observed in the warfarin embryopathy, which is due to the teratogenic effects of coumarin derivatives during pregnancy. We have cloned the genomic region within Xp22.3 where the CDPX gene has been assigned and isolated three adjacent genes showing highly significant homology to the sulfatase gene family. Point mutations in one of these genes were identified in five patients with CDPX. Expression of this gene in COS cells resulted in a heat-labile arylsulfatase activity that is inhibited by warfarin. A deficiency of a heat-labile arylsulfatase activity was demonstrated in patients with deletions spanning the CDPX region. These data indicate that CDPX is caused by an inherited deficiency of a novel sulfatase and suggest that warfarin embryopathy might involve drug-induced inhibition of the same enzyme.
journal_name
Celljournal_title
Cellauthors
Franco B,Meroni G,Parenti G,Levilliers J,Bernard L,Gebbia M,Cox L,Maroteaux P,Sheffield L,Rappold GA,Andria G,Petit C,Ballabio Adoi
10.1016/0092-8674(95)90367-4subject
Has Abstractpub_date
1995-04-07 00:00:00pages
15-25issue
1eissn
0092-8674issn
1097-4172pii
0092-8674(95)90367-4journal_volume
81pub_type
杂志文章相关文献
CELL文献大全abstract：:Fos and Jun transcription factors are induced by a variety of extracellular signaling agents. We describe here an unusual member of the Fos family that is also induced, namely, a truncated form of FosB (delta FosB) missing the C-terminal 101 amino acids of FosB. delta FosB retains the dimerization and DNA-binding acti...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/0092-8674(91)90504-r
更新日期：1991-02-22 00:00:00
abstract：:How is the characteristic shape of an organelle generated? Recent work has provided insight into how the tubular network of the endoplasmic reticulum (ER) is formed. The tubules themselves are shaped by the reticulons and DP1/Yop1p, whereas their fusion into a network is brought about by membrane-bound GTPases that in...
journal_title：Cell
pub_type： 杂志文章,评审
doi：10.1016/j.cell.2011.11.022
更新日期：2011-12-09 00:00:00
abstract：:The origin of a low molecular weight virus-associated RNA (VA-RNA) was mapped by hybridization of VA-RNA to specific fragments of adenovirus type 2 DNA, obtained after cleavage with three different restriction endonucleases. VA-RNA was found to hybridize exculsively to the l-strand [strand with low buoyant density in ...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/0092-8674(75)90066-5
更新日期：1975-09-01 00:00:00
abstract：:Using cryo-electron microscopy, we have solved the structure of an icosidodecahedral COPII coat involved in cargo export from the endoplasmic reticulum (ER) coassembled from purified cargo adaptor Sec23-24 and Sec13-31 lattice-forming complexes. The coat structure shows a tetrameric assembly of the Sec23-24 adaptor la...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/j.cell.2008.06.024
更新日期：2008-08-08 00:00:00
abstract：:Post-translational modifications of histone proteins and exchanges of histone variants of chromatin are central to the regulation of nearly all DNA-templated biological processes. However, the degree and variability of chromatin modifications in specific human immune cells remain largely unknown. Here, we employ a hig...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/j.cell.2018.03.079
更新日期：2018-05-31 00:00:00
abstract：:The brlA gene of A. nidulans mediates the developmental switch from the indeterminate, apical growth pattern of vegetative cells to the budding growth pattern of conidiophores. brlA encodes a 432 amino acid polypeptide containing two directly repeated motifs resembling the Zn(II) coordination sites first recognized in...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/0092-8674(88)90198-5
更新日期：1988-07-29 00:00:00
abstract：:Erythroid Krüppel-like factor (EKLF) is necessary for stage-specific expression of the human beta-globin gene. We show that EKLF requires a SWI/SNF-related chromatin remodeling complex, EKLF coactivator-remodeling complex 1 (E-RC1), to generate a DNase I hypersensitive, transcriptionally active beta-globin promoter on...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/s0092-8674(00)81785-7
更新日期：1998-10-02 00:00:00
abstract：:In many organisms, meiotic chromosomes are bundled at their telomeres to form a "bouquet" arrangement. The bouquet formation plays an important role in homologous chromosome pairing and therefore progression of meiosis. As meiotic telomere clustering occurs in response to mating pheromone signaling in fission yeast, w...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/j.cell.2006.01.048
更新日期：2006-04-07 00:00:00
abstract：:The budding yeast, Saccharomyces cerevisiae, has emerged as an archetype of eukaryotic cell biology. Here we show that S. cerevisiae is also a model for the evolution of cooperative behavior by revisiting flocculation, a self-adherence phenotype lacking in most laboratory strains. Expression of the gene FLO1 in the la...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/j.cell.2008.09.037
更新日期：2008-11-14 00:00:00
abstract：:An approach to identify backbone conformational changes underlying nicotinic acetylcholine receptor (nAChR) gating was developed. Specific backbone peptide bonds were replaced with an ester, which disrupts backbone hydrogen bonds at the site of mutation. At a conserved proline residue (alphaPro221) in the first transm...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/s0092-8674(00)80962-9
更新日期：1999-01-08 00:00:00
abstract：:A 1.1 kb intron containing an open reading frame (ORF) in one allele (omega+) of the yeast mitochondrial 21S rRNA gene is nearly quantitatively inserted in crosses into a 21S rRNA allele lacking that intron (omega-). We have determined that this nonreciprocal exchange initiates soon after cells fuse to form zygotes an...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/0092-8674(85)90348-4
更新日期：1985-04-01 00:00:00
abstract：:Six restriction fragments of Ad2 DNA which contain sites for RNA initiation have been identified by their ability to hybridize nascent labeled RNA less than 1 kb in length. Four RNA initiation sites early in infection are identified in regions where previous work (Flint, 1977) had mapped mRNAs. The major late RNA init...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/0092-8674(77)90273-2
更新日期：1977-11-01 00:00:00
abstract：:The tumor suppressor gene p53 regulates multiple cellular responses to DNA damage, but the transcriptional targets that specify these responses are incompletely understood. We describe a Drosophila p53 homolog and demonstrate that it can activate transcription from a promoter containing binding sites for human p53. Do...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/S0092-8674(00)80627-3
更新日期：2000-03-31 00:00:00
abstract：:Glial cells are essential components of the nervous system. In this issue, Singhvi et al. uncover cellular and molecular mechanisms through which C. elegans glia shape sensory neuron terminals and thus control animal thermosensing behaviors. ...
journal_title：Cell
pub_type： 评论,杂志文章
doi：10.1016/j.cell.2016.04.052
更新日期：2016-05-05 00:00:00
abstract：:The increasing proportion of variance in human complex traits explained by polygenic scores, along with progress in preimplantation genetic diagnosis, suggests the possibility of screening embryos for traits such as height or cognitive ability. However, the expected outcomes of embryo screening are unclear, which unde...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/j.cell.2019.10.033
更新日期：2019-11-27 00:00:00
abstract：:We have shown that lariat formation during in vitro splicing of several RNA precursors, from Drosophila to man, occurs at a unique and identifiable but weakly conserved site, 18 to 37 nucleotides proximal to the 3' splice site. Lariat formation within an artificial intron lacking a normal branch-point sequence occurs ...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/0092-8674(85)90064-9
更新日期：1985-05-01 00:00:00
abstract：:Anatomically modern humans interbred with Neanderthals and with a related archaic population known as Denisovans. Genomes of several Neanderthals and one Denisovan have been sequenced, and these reference genomes have been used to detect introgressed genetic material in present-day human genomes. Segments of introgres...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/j.cell.2018.02.031
更新日期：2018-03-22 00:00:00
abstract：:The in vitro folding pathway of bovine pancreatic trypsin inhibitor (BPTI) has been described previously in terms of the disulfide-bonded intermediates that accumulate during folding of the protein. Folding is slow, occurring in hours at pH 7.3, 25 degrees C. In addition, approximately half of the BPTI molecules becom...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/0092-8674(92)90559-u
更新日期：1992-11-27 00:00:00
abstract：:Genetics and pharmacology can elicit surprisingly different phenotypes despite targeting the same protein. This Essay explores these unexpected differences and their implications for biology and medicine. ...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/j.cell.2007.01.021
更新日期：2007-02-09 00:00:00
abstract：:The S. cerevisiae gene MCR1 encodes two mitochondrial isoforms of NADH-cytochrome b5 reductase. The primary translation product has an amino-terminal matrix-targeting signal, followed by a stretch of 21 uncharged amino acids. This precursor protein is inserted into the outer membrane, but only about one-third of the m...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/0092-8674(94)90072-8
更新日期：1994-12-02 00:00:00
abstract：:The posttranslational conversion of cysteine to C(alpha)-formylglycine in the catalytic site of mammalian sulfatases is deficient in the rare but devastating disorder multiple sulfatase deficiency (MSD). Two papers in this issue of Cell report the cloning of a gene responsible for this activity. ...
journal_title：Cell
pub_type： 评论,杂志文章,评审
doi：10.1016/s0092-8674(03)00354-4
更新日期：2003-05-16 00:00:00
abstract：:Microbes that cause persistent infections (e.g., herpes viruses) do so by switching from fast-growing lytic states to slow-growing latent states. Waldman et al. have identified a single transcription factor that governs the switch between the lytic and latent forms of Toxoplasma gondii, a parasite that causes a persis...
journal_title：Cell
pub_type： 评论,杂志文章
doi：10.1016/j.cell.2019.12.038
更新日期：2020-01-23 00:00:00
abstract：:In this issue of Cell, a study by Valerie Mizrahi and her colleagues suggests that a putative error-prone DNA polymerase encoded by the dnaE2 gene of Mycobacterium tuberculosis may bypass certain types of DNA base damage, generating mutations. This may be an important mechanism for generating drug-resistant strains of...
journal_title：Cell
pub_type： 评论,杂志文章,评审
doi：10.1016/s0092-8674(03)00275-7
更新日期：2003-04-18 00:00:00
abstract：:We have isolated the Drosophila melanogaster homolog (Dint-1) of int-1, a conserved cellular oncogene implicated in viral mammary tumorigenesis in mice. The deduced Dint-1 protein sequence contains 468 amino acids and starts with a hydrophobic leader; it is 54% identical to the int-1 sequence, and all 23 cysteine resi...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/0092-8674(87)90038-9
更新日期：1987-08-14 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：:Designing successful microbiota-based therapies requires in-depth understanding of the ecological foundations of this community. In this issue, two studies by Whitaker et al. and Lim et al. provide refined genetic tools for dissecting the spatial organization and temporal dynamics of bacterial communities at the singl...
journal_title：Cell
pub_type： 评论,杂志文章
doi：10.1016/j.cell.2017.04.009
更新日期：2017-04-20 00:00:00
abstract：:The hallmarks of cancer comprise six biological capabilities acquired during the multistep development of human tumors. The hallmarks constitute an organizing principle for rationalizing the complexities of neoplastic disease. They include sustaining proliferative signaling, evading growth suppressors, resisting cell ...
journal_title：Cell
pub_type： 杂志文章,评审
doi：10.1016/j.cell.2011.02.013
更新日期：2011-03-04 00:00:00
abstract：:The non-receptor protein tyrosine phosphatase (PTP) SHP2, encoded by PTPN11, plays an essential role in RAS-mitogen-activated protein kinase (MAPK) signaling during normal development. It has been perplexing as to why both enzymatically activating and inactivating mutations in PTPN11 result in human developmental diso...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/j.cell.2020.09.002
更新日期：2020-10-15 00:00:00
abstract：:Chromatin modifying activities inherent to polycomb repressive complexes PRC1 and PRC2 play an essential role in gene regulation, cellular differentiation, and development. However, the mechanisms by which these complexes recognize their target sites and function together to form repressive chromatin domains remain po...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/j.cell.2014.05.004
更新日期：2014-06-05 00:00:00
abstract：:Neural progenitors generate distinct cell types at different stages, but the mechanisms controlling these temporal transitions are poorly understood. In the Drosophila CNS, a cascade of transcription factors, the "temporal gene cascade," has been identified that acts to alter progenitor competence over time. However, ...
journal_title：Cell
pub_type： 杂志文章
doi：10.1016/j.cell.2009.10.032
更新日期：2009-11-25 00:00:00
