Cystathionine beta synthase: gene dosage effect in trisomy 21.

Abstract:

:The enzymatic activity of cystathionine beta synthase has been studied in fibroblasts of nine patients with regular trisomy 21. An excess of CBS activity was found in trisomy 21 with a trisomy 21/normal ratio equal to 1.66. A 1.04 ratio was found in 21q21----21 p ter monosomy; a 1.04 and 0.99 ratio was found in two 21 qter----21q22.3 monosomies; a 1.14 ratio in 21 qter----21q22 monosomy; a 0.89 ratio in a 21q21----21 pter trisomy; an excess of CBS activity was found in a 21q22.1 ----21q21 trisomy with a 1.57 ratio. These results show a gene dosage effect in human fibroblasts trisomic for chromosome 21 and suggest the assignment of human CBS locus between 21q22.1 and 21q21.

authors

Chadefaux B,Rethoré MO,Raoul O,Ceballos I,Poissonnier M,Gilgenkranz S,Allard D

doi

10.1016/0006-291x(85)91641-9

subject

Has Abstract

pub_date

1985-04-16 00:00:00

pages

40-4

issue

1

eissn

0006-291X

issn

1090-2104

pii

0006-291X(85)91641-9

journal_volume

128

pub_type

杂志文章
  • Intermolecular disulfide bond formation in the NEMO dimer requires Cys54 and Cys347.

    abstract::NEMO is an essential regulatory component of the IkappaB kinase (IKK) complex, which controls activation of the NF-kappaB signaling pathway. Herein, we show that NEMO exists as a disulfide-bonded dimer when isolated from several cell types and analyzed by SDS-polyacrylamide gel electrophoresis under non-reducing condi...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2007.12.123

    authors: Herscovitch M,Comb W,Ennis T,Coleman K,Yong S,Armstead B,Kalaitzidis D,Chandani S,Gilmore TD

    更新日期:2008-02-29 00:00:00

  • Regulated secretory proteins in the exocrine pancreas aggregate under conditions that mimic the trans-Golgi network.

    abstract::Fifteen pancreatic secretory proteins, including seven serine-endoproteinases (isoenzyme forms of trypsinogen, chymotrypsinogen and proelastase), four metallo-exoproteinases (isoenzymic forms of procarboxypeptidase A and procarboxypeptidase B), amylase, lipase, and two forms of carboxyl ester lipase were observed to a...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1006/bbrc.1993.2577

    authors: Freedman SD,Scheele GA

    更新日期:1993-12-15 00:00:00

  • Effect of phosphorylation on 68 KDa neurofilament subunit protein assembly by the cyclic AMP dependent protein kinase in vitro.

    abstract::The effect of phosphorylation by cyclic AMP dependent protein kinase on the assembly of the core-forming 68 KDa neurofilament subunit protein (NF-L) was studied in vitro by fluorescence energy transfer and electron microscopy. Phosphorylation of unassembled NF-L in a low ionic strength buffer by cyclic AMP dependent p...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/0006-291x(90)90394-3

    authors: Nakamura Y,Takeda M,Angelides KJ,Tanaka T,Tada K,Nishimura T

    更新日期:1990-06-15 00:00:00

  • 5-Lipoxygenase upregulation by dexamethasone in human mast cells.

    abstract::In spite of intensive research, our understanding of the regulation of expression of 5-LO (the key enzyme in the leukotriene metabolism) remains fragmentary. We investigated the effects of dexamethasone on the expression of this gene in a binary model consisting of two clones of the human mast cell line HMC-1, one wit...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1006/bbrc.1999.1732

    authors: Colamorea T,Di Paola R,Macchia F,Guerrese MC,Tursi A,Butterfield JH,Caiaffa MF,Haeggström JZ,Macchia L

    更新日期:1999-11-30 00:00:00

  • Phase separation in necrotic cells.

    abstract::Necrotic cells are known to develop characteristic membrane blebs. We measured protein concentration within necrotic blebs and found that it can be reduced by as much as twenty-fold compared to the main cell body (CB). These results raise two questions: 1. Why do proteins vacate the bleb? 2. How can osmotic equilibriu...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2017.08.123

    authors: Rana PS,Mudrak NJ,Lopez R,Lynn M,Kershner L,Model MA

    更新日期:2017-10-21 00:00:00

  • Cbl regulates the activity of SIRT2.

    abstract::SIRT2 is a member of the sirtuin family of NAD(+)-dependent protein deacetylases. It is involved in metabolic homeostasis and has been linked to the progression of age-related diseases. Casitas B-lineage lymphoma (Cbl) proteins regulate signal transduction through many pathways and, consequently, regulate cell functio...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2014.09.125

    authors: Choi YH,Kim H,Han Y,Jin YH,Lee KY

    更新日期:2014-10-24 00:00:00

  • Conditional transformation of mouse pancreatic epithelial cells: an in vitro model for analysis of genetic events in pancreatocarcinogenesis.

    abstract::Pancreatic ductal adenocarcinomas arise through the accumulation of certain genetic alterations including ras, p16, p53, and DPC4. We found that activation of ras and inactivation of p53 could cooperatively induce in vitro tumorigenicity in conditionally immortalized pancreatic epithelial (IMPE) cells. IMPE cells were...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2004.04.196

    authors: Koizumi M,Ito D,Fujimoto K,Toyoda E,Kami K,Mori T,Doi R,Whitehead R,Imamura M

    更新日期:2004-06-25 00:00:00

  • UT-B1 urea transporter plays a noble role as active water transporter in C6 glial cells.

    abstract::Since our experimental results suggest that UT-B1 functions as active water transporter against osmotic gradient in C6 glial cells, we report here for the first time the evidence for the active water transport. Exposure of C6 cells to a hyperosmotic solution containing glycerol or sucrose produced cell shrinkage due t...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2006.10.097

    authors: Ogami A,Miyazaki H,Niisato N,Sugimoto T,Marunaka Y

    更新日期:2006-12-22 00:00:00

  • Enterococcus faecalis lipoteichoic acid regulates macrophages autophagy via PI3K/Akt/mTOR pathway.

    abstract::Enterococcus faecalis (E. faecalis) infection is considered an important etiological factor for the development of persistent apical periodontitis (PAP), but the exact mechanisms of autophagy between E. faecalis and immune cells remain unknown. In this study, we elucidated how E. faecalis lipoteichoic acid (LTA) is as...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2018.03.109

    authors: Lin D,Gao Y,Zhao L,Chen Y,An S,Peng Z

    更新日期:2018-04-15 00:00:00

  • Suppressive mechanism of salmosin, a novel disintegrin in B16 melanoma cell metastasis.

    abstract::We have previously reported that salmosin, a novel disintegrin, was isolated from Korean snake (Agkistrodon halys brevicaudus) venom and significantly inhibited solid tumor growth in mice by perturbation of tumor-specific angiogenesis via blocking alphavbeta3 integrin expressed on vascular endothelial cells. In this s...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1006/bbrc.2000.3130

    authors: Kang IC,Kim DS,Jang Y,Chung KH

    更新日期:2000-08-18 00:00:00

  • Production of soluble integrin alpha2beta1 heterodimer complex functionally active in vitro and in vivo.

    abstract::Integrin alpha2beta1, which is a membrane protein consisting of noncovalently bound alpha2 and beta1 chains, mediates cell binding to collagen and plays a role in platelet functions. DNAs encoding the chimeric proteins in which the extracellular domains of each alpha2 and beta1 chain was fused to hinge and Fc regions ...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1006/bbrc.2001.6195

    authors: Kainoh M,Tanaka T

    更新日期:2002-01-11 00:00:00

  • Kruppel-like factor 2 inhibit the angiogenesis of cultured human liver sinusoidal endothelial cells through the ERK1/2 signaling pathway.

    abstract::Kruppel-like factor 2 (KLF2) is a crucial anti-angiogenic factor. However, its precise role in hepatic angiogenesis induced by liver sinusoidal endothelial cells (LSECs) remain unclear. This study was aimed to evaluate the effect of KLF2 on angiogenesis of LSECs and to explore the corresponding mechanism. Cultured hum...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2015.07.113

    authors: Zeng XQ,Li N,Pan DY,Miao Q,Ma GF,Liu YM,Tseng YJ,Li F,Xu LL,Chen SY

    更新日期:2015-09-04 00:00:00

  • Isolation of laminin from human placental basement membranes: amnion, chorion and chorionic microvessels.

    abstract::Laminin components were solubilized from basement membranes of amnion, chorion and chorionic microvessels of human placenta without prior protease digestion. These structures, after isolation, were initially processed in a sonicator bath containing a solution of Triton X-100, EDTA and 2M NaCl and the laminins extracte...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/0006-291x(83)91730-8

    authors: Ohno M,Martinez-Hernandez A,Ohno N,Kefalides NA

    更新日期:1983-05-16 00:00:00

  • Stimulatory effect of endogenous tissue inhibitor of metalloproteinases-1 (TIMP-1) overexpression on type IV collagen and laminin gene expression in rat mammary carcinoma cells.

    abstract::We recently reported enhanced tumor growth and stimulation of vascular endothelial growth factor (VEGF) expression in rat mammary carcinoma cells transfected with a human tissue inhibitor of metalloproteinases-1 (hTIMP-1) cDNA (1). In the present study, we examined if the composition of the stroma was altered in the t...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1006/bbrc.1998.8805

    authors: Yoshiji H,Buck TB,Harris SR,Ritter LM,Lindsay CK,Thorgeirsson UP

    更新日期:1998-06-29 00:00:00

  • MicroRNA-187, down-regulated in clear cell renal cell carcinoma and associated with lower survival, inhibits cell growth and migration though targeting B7-H3.

    abstract::Aberrantly expressed microRNAs (miRNAs) are frequently associated with the aggressive malignant behavior of human cancers, including clear cell renal cell carcinoma (ccRCC). Based on the preliminary deep sequencing data, we hypothesized that miR-187 may play an important role in ccRCC development. In this study, we fo...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2013.07.095

    authors: Zhao J,Lei T,Xu C,Li H,Ma W,Yang Y,Fan S,Liu Y

    更新日期:2013-08-23 00:00:00

  • Focal adhesion kinase is not essential for in vitro and in vivo differentiation of ES cells.

    abstract::Focal adhesion kinase, FAK, is a unique protein tyrosine kinase found in cellular focal adhesions. It is widely expressed and highly phosphorylated during embryogenesis. To examine the function of FAK in cell differentiation, we made FAK-deficient embryonic stem (ES) cells by homologous recombination. However, FAK-def...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1006/bbrc.1995.1503

    authors: Ilic D,Furuta Y,Suda T,Atsumi T,Fujimoto J,Ikawa Y,Yamamoto T,Aizawa S

    更新日期:1995-04-06 00:00:00

  • Establishment of immortal hepatocytes from a CYP3A7-transgenic/p53-knockout mouse.

    abstract::Immortal hepatocytes were established from a CYP3A7-transgenic/p53-knockout mouse. The cells could be maintained with shorter doubling time after culture for 1 month. Detectable amounts of CYP3A7 mRNA and the activity of 7-propoxycoumarin O-depropylase, one of the representative CYP3A activities, were present in the i...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1006/bbrc.1995.2869

    authors: Shimoji M,Hattori K,Itoh S,Nakayama K,Katsuki M,Aizawa S,Yokoi T,Kamataki T

    更新日期:1995-12-26 00:00:00

  • Identification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisons.

    abstract::Topoisomerase 1 (TOP1) poisons like camptothecin (CPT) are currently used in cancer chemotherapy but these compounds can have damaging, off-target effects on neurons leading to cognitive, sensory and motor deficits. To understand the molecular basis for the enhanced sensitivity of neurons to CPT, we examined the effec...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2016.09.068

    authors: Rossi SL,Lumpkin CJ,Harris AW,Holbrook J,Gentillon C,McCahan SM,Wang W,Butchbach MER

    更新日期:2016-10-14 00:00:00

  • The majority of cDNA clones with strong positive signals for the interferon-induction-specific sequences resemble mitochondrial ribosomal RNA genes.

    abstract::A complementary DNA library prepared from the 12S polyadenylated RNAs extracted from interferon-induced KG-1 cells, a human myeloblast cell line, was screened for the presence of induction-specific sequences. Clones that exhibited strong positive signals were separated by hybridization criteria into nine classes. Clon...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/0006-291x(83)90833-1

    authors: Tsuzuki T,Nomiyama H,Setoyama C,Maeda S,Shimada K,Pestka S

    更新日期:1983-07-29 00:00:00

  • RNAs that interact with the fragile X syndrome RNA binding protein FMRP.

    abstract::The Fragile X protein FMRP is an RNA binding protein whose targets are not well known; yet, these RNAs may play an integral role in the disease's etiology. Using a biotinylated-FMRP affinity resin, we isolated RNAs from the parietal cortex of a normal adult that bound FMRP. These RNAs were amplified by differential di...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1006/bbrc.2000.3405

    authors: Sung YJ,Conti J,Currie JR,Brown WT,Denman RB

    更新日期:2000-09-07 00:00:00

  • The main protease and RNA-dependent RNA polymerase are two prime targets for SARS-CoV-2.

    abstract::The coronavirus disease 2019 (COVID-19) pandemic, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), poses an unprecedented global health crisis. It is particularly urgent to develop clinically effective therapies to contain the pandemic. The main protease (Mpro) and the RNA-dependent RNA poly...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2020.10.091

    authors: Jin Z,Wang H,Duan Y,Yang H

    更新日期:2020-11-21 00:00:00

  • Calmodulin-dependent phosphorylation and dephosphorylation during fertilization in Dictyostelium discoideum.

    abstract::Many calmodulin-dependent biological phenomena are regulated by calmodulin-dependent phosphorylation and dephosphorylation. In Dictyostelium discoideum, cell and pronuclear fusion during fertilization are both calmodulin-dependent biomembrane fusion events. Calmodulin-dependent phosphorylation and dephosphorylation ac...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1006/bbrc.1993.1526

    authors: Lydan MA,O'Day DH

    更新日期:1993-05-14 00:00:00

  • An in vivo model for study of the angiogenic effects of basic fibroblast growth factor.

    abstract::We have investigated the angiogenic effects of basic fibroblast growth factor following its implantation in slow release beads under the kidney capsule. The presence of basic fibroblast growth factor in the subcapsular space induced a marked angiogenic response maximal at 1 microgram dose per kidney. Histological exam...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/0006-291x(87)91011-4

    authors: Hayek A,Culler FL,Beattie GM,Lopez AD,Cuevas P,Baird A

    更新日期:1987-09-15 00:00:00

  • The anti-obesity effect of Taheebo (Tabebuia avellanedae Lorentz ex Griseb) extract in ovariectomized mice and the identification of a potential anti-obesity compound.

    abstract::Estrogen deficiency-induced obesity has a high risk of visceral fat accumulation and body weight gain. It is also associated with many adverse health conditions. Taheebo extract from Tabebuia avellanedae has been recognized as playing several biological and pharmacological roles. Therefore, we investigated whether the...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2016.08.081

    authors: Iwamoto K,Fukuda Y,Tokikura C,Noda M,Yamamoto A,Yamamoto M,Yamashita M,Zaima N,Iida A,Moriyama T

    更新日期:2016-09-23 00:00:00

  • Biochemical characterization of recombinant phosphoglucose isomerase of Mycobacterium tuberculosis.

    abstract::Phosphoglucose isomerase (PGI) is a well-characterized ubiquitous enzyme involved in the glycolytic pathway. It catalyzes the reversible isomerization of D-glucopyranose-6-phosphate and D-fructofuranose-6-phosphate and is present in all living cells. However, there is interspecies variation at the level of the primary...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2005.09.092

    authors: Mathur D,Ahsan Z,Tiwari M,Garg LC

    更新日期:2005-11-18 00:00:00

  • Analysis of gene expression in single human oocytes and preimplantation embryos.

    abstract::Little is known about the gene expression in human oocytes and early embryo development because of the rare availability of the materials. The recent advancement of biotechnology has allowed one to analyze the gene expression in single human oocytes and preimplantation embryos. Gene expression of human lactate dehydro...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2005.11.149

    authors: Li SS,Liu YH,Tseng CN,Singh S

    更新日期:2006-02-03 00:00:00

  • Floral glycerolipid profiles in homeotic mutants of Arabidopsis thaliana.

    abstract::Flowers have distinct glycerolipid composition, yet its floral organ-specific profile remains elusive in Arabidopsis whose flowers are too tiny to dissect different floral organs. Here, we employed known floral homeotic mutants agamous-1 (ag-1) and apetala3-3 (ap3-3) to facilitate sample preparation enriched in differ...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2014.06.115

    authors: Nakamura Y,Liu YC,Lin YC

    更新日期:2014-08-08 00:00:00

  • The same nuclear proteins bind the proximal CACCC box of the human beta-globin promoter and a similar sequence in the enhancer.

    abstract::Using in vitro assays, we show that nuclear proteins related to the Sp1 and GT-1 factors bind to a CACCC box sequence in the human beta-globin enhancer, adjacent to binding sites for the erythroid-specific factor NFE1 and the ubiquitous factor CP1. The same proteins are known to bind to the proximal, but not to the di...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/0006-291x(89)91695-1

    authors: Giglioni B,Comi P,Ronchi A,Mantovani R,Ottolenghi S

    更新日期:1989-10-16 00:00:00

  • Structural properties of metal-free apometallothioneins.

    abstract::The metalated forms of metallothionein are well studied (particularly Zn-MT, Cu-MT and Cd-MT), but almost nothing is known about the chemical and structural properties of apometallothioneins despite their importance in initial metalation and subsequent demetalation. Electrospray ionization mass spectrometry was used t...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2012.07.141

    authors: Summers KL,Mahrok AK,Dryden MD,Stillman MJ

    更新日期:2012-08-24 00:00:00

  • Biophysical characterization of the breast cancer-related BIG3-PHB2 interaction: Effect of non-conserved loop region of BIG3 on the structure and the interaction.

    abstract::Brefeldin A-inhibited guanine nucleotide-exchange protein 3 (BIG3) interacts with and inhibits the tumor suppressor function of prohibitin-2 (PHB2), and recent in vivo studies have demonstrated that the BIG3-PHB2 interaction is a promising target for breast cancer therapy. However, little biophysical characterization ...

    journal_title:Biochemical and biophysical research communications

    pub_type: 杂志文章

    doi:10.1016/j.bbrc.2019.08.028

    authors: Chigira T,Nagatoishi S,Takeda H,Yoshimaru T,Katagiri T,Tsumoto K

    更新日期:2019-10-08 00:00:00