Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome.

Abstract:

:Little is known about genetic regulation of the development of white matter. This knowledge is critical in understanding the pathophysiology of neurodevelopmental syndromes associated with altered cognition as well as in elucidating the genetics of normal human cognition. The hemideletion of approximately 25 genes on chromosome 7q11.23 that causes Williams syndrome (WS) includes genes that regulate cytoskeletal dynamics in neurons, especially LIMK1 and CYLN2, and therefore offers the opportunity to investigate the role of these genes in the formation of white matter tracts. We used diffusion tensor imaging to demonstrate alteration in white matter fiber directionality, deviation in posterior fiber tract course, and reduced lateralization of fiber coherence in WS. These abnormalities are consistent with an alteration of the late stages of neuronal migration, define alterations of white matter structures underlying dissociable behavioral phenotypes in WS, and provide human in vivo information about genetic control of white matter tract formation.

authors

Marenco S,Siuta MA,Kippenhan JS,Grodofsky S,Chang WL,Kohn P,Mervis CB,Morris CA,Weinberger DR,Meyer-Lindenberg A,Pierpaoli C,Berman KF

doi

10.1073/pnas.0704311104

subject

Has Abstract

pub_date

2007-09-18 00:00:00

pages

15117-22

issue

38

eissn

0027-8424

issn

1091-6490

pii

0704311104

journal_volume

104

pub_type

杂志文章
  • Translational enhancement of the poliovirus 5' noncoding region mediated by virus-encoded polypeptide 2A.

    abstract::Genetic and biochemical studies have revealed that the 5' noncoding region of poliovirus mediates translation of the viral mRNA by an unusual mechanism involving entry of ribosomes in internal sequences of mRNA molecules. We have found that mRNAs bearing the 5' noncoding region of poliovirus were translated at an enha...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.89.21.10272

    authors: Hambidge SJ,Sarnow P

    更新日期:1992-11-01 00:00:00

  • High-seas fish wars generate marine reserves.

    abstract::The effective management of marine fisheries is an ongoing challenge at the intersection of biology, economics, and policy. One way in which fish stocks-and their habitats-can be protected is through the establishment of marine reserves, areas that are closed to fishing. Although the potential economic benefits of suc...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1518509113

    authors: Herrera GE,Moeller HV,Neubert MG

    更新日期:2016-04-05 00:00:00

  • Dichotomy and perceptual distortions in absolute pitch ability.

    abstract::Absolute pitch (AP) is the rare ability to identify the pitch of a tone without the aid of a reference tone. Understanding both the nature and genesis of AP can provide insights into neuroplasticity in the auditory system. We explored factors that may influence the accuracy of pitch perception in AP subjects both duri...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0703868104

    authors: Athos EA,Levinson B,Kistler A,Zemansky J,Bostrom A,Freimer N,Gitschier J

    更新日期:2007-09-11 00:00:00

  • Mutation in sorghum LOW GERMINATION STIMULANT 1 alters strigolactones and causes Striga resistance.

    abstract::Striga is a major biotic constraint to sorghum production in semiarid tropical Africa and Asia. Genetic resistance to this parasitic weed is the most economically feasible control measure. Mutant alleles at the LGS1 (LOW GERMINATION STIMULANT 1) locus drastically reduce Striga germination stimulant activity. We provid...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1618965114

    authors: Gobena D,Shimels M,Rich PJ,Ruyter-Spira C,Bouwmeester H,Kanuganti S,Mengiste T,Ejeta G

    更新日期:2017-04-25 00:00:00

  • The role of immunophilins in mutant superoxide dismutase-1linked familial amyotrophic lateral sclerosis.

    abstract::It has been reported that expression of familial amyotrophic lateral sclerosis (FALS)-associated mutant Cu/Zn superoxide dismutase-1 (SOD) induces apoptosis of neuronal cells in culture associated with an increase in reactive oxygen species. SOD recently has been shown to prevent calcineurin inactivation, initiating t...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.96.6.3251

    authors: Lee JP,Palfrey HC,Bindokas VP,Ghadge GD,Ma L,Miller RJ,Roos RP

    更新日期:1999-03-16 00:00:00

  • Central nervous system activity associated with the pain evoked by bradykinin and its alteration by morphine and aspirin.

    abstract::Synthetic bradykinin, a nonapeptide formed from alpha-2 globulin in plasma, injected intra-arterially or intraperitoneally in cats in doses of 10-50 mug, evoked activity in the central nervous system in pathways associated with the signaling of pain. Similar injections of bradykinin in intact normal cats and dogs evok...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.63.3.705

    authors: Lim RK,Krauthamer G,Guzman F,Fulp RR

    更新日期:1969-07-01 00:00:00

  • Quantitation of zidovudine-resistant human immunodeficiency virus type 1 in the blood of treated and untreated patients.

    abstract::A nonselective ex vivo assay was used to directly detect and quantify zidovudine (AZT)-resistant human immunodeficiency virus type 1 (HIV-1) in the blood of treated and untreated patients. In contrast to previous reports, drug-resistant virus was detected in peripheral blood mononuclear cells of a few of the patients ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.90.1.25

    authors: Mohri H,Singh MK,Ching WT,Ho DD

    更新日期:1993-01-01 00:00:00

  • Regulation of viral transciption and tumor antigen expression in cells transformed by simian virus 40.

    abstract::We have studied the expression of simian virus 40 (SV40) specific tumor antigen (T-antigen) and viral RNA in SV40-transformed mouse 3T3 cells that are temperature-sensitive for the expression of the transformed phenotype (ts SV3T3). Although transformed by wild-type SV40, ts SV3T3 cells at 32 degrees behave like stand...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.73.6.1931

    authors: Basilico C,Zouzias D

    更新日期:1976-06-01 00:00:00

  • Electron paramagnetic resonance spectroscopy of Cu2+ in hen egg-white lysozyme.

    abstract::We have obtained the electron paramagnetic resonance spectrum of Cu2+ bound in a tetragonal single crystal of hen egg-white lysozyme. A part of this spectrum has been shown to originate from Cu2+ ions bound at the site designated as B by Teichberg et al. [Teichberg, V.I., Sharon, N., Moult, J., Smilansky, A. & Yonath,...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.77.9.5243

    authors: Hutchison CA Jr,Singel DJ,Hadad MN,Kemple MD

    更新日期:1980-09-01 00:00:00

  • Functional computational model for optimal color coding.

    abstract::This paper presents a computational model for color coding that provides a functional explanation of how humans perceive colors in a homogeneous color space. Beginning with known properties of human cone photoreceptors, the model estimates the locations of the reflectance spectra of Munsell color chips in perceptual c...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0904688106

    authors: Romney AK,Chiao CC

    更新日期:2009-06-23 00:00:00

  • Freezing immunoglobulins to see them move.

    abstract::The issue of protein dynamics and its implications in the biological function of proteins are arousing greater and greater interest in different fields of molecular biology. In cryo-electron tomography experiments one may take several snapshots of a given biological macromolecule. In principle, a large enough collecti...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0400119101

    authors: Bongini L,Fanelli D,Piazza F,De Los Rios P,Sandin S,Skoglund U

    更新日期:2004-04-27 00:00:00

  • Transfer of the human gene for hypoxanthine-guanine phosphoribosyltransferase via isolated human metaphase chromosomes into mouse L-cells.

    abstract::We have transferred the human gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8; IMP:pyrophosphate phosphoribosyltransferease) via isolated metaphase chromosomes from human HeLa S3 cells into murine A9 cells which lack functional murine HPRT activity, using the technique of McBride and Ozer (Pr...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.72.5.1792

    authors: Willecke K,Ruddle FH

    更新日期:1975-05-01 00:00:00

  • Use of site-directed mutagenesis to enhance the epitope-shielding effect of covalent modification of proteins with polyethylene glycol.

    abstract::Modification by covalent attachment of polyethylene glycol (PEG) can reduce the immunogenicity and prolong the circulating life of proteins, but the utility of this approach for any protein is restricted by the number and distribution of PEG attachment sites (e.g., epsilon-amino groups of lysine residues). We have dev...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.88.16.7185

    authors: Hershfield MS,Chaffee S,Koro-Johnson L,Mary A,Smith AA,Short SA

    更新日期:1991-08-15 00:00:00

  • Structural and biochemical analysis of the assembly and function of the yeast pre-mRNA 3' end processing complex CF I.

    abstract::The accuracy of the 3'-end processing by cleavage and polyadenylation is essential for mRNA biogenesis and transcription termination. In yeast, two poorly conserved neighboring elements upstream of cleavage sites are important for accuracy and efficiency of this process. These two RNA sequences are recognized by the R...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1214102110

    authors: Barnwal RP,Lee SD,Moore C,Varani G

    更新日期:2012-12-26 00:00:00

  • Developmentally regulated expression by Trypanosoma cruzi of molecules that accelerate the decay of complement C3 convertases.

    abstract::We recently showed that culture-derived metacyclic trypomastigotes (CMT), but not epimastigotes (Epi), of the Miranda 88 strain of Trypanosoma cruzi evade lysis by the human alternative complement pathway because of inefficient binding of factor B to complement component C3b on the parasite surface. These results sugg...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.85.1.193

    authors: Rimoldi MT,Sher A,Heiny S,Lituchy A,Hammer CH,Joiner K

    更新日期:1988-01-01 00:00:00

  • At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

    abstract::Gyrate atrophy of the choroid and retina (GA) is an inherited chorioretinal degeneration caused by deficiency of ornithine delta-aminotransferase (OAT; L-ornithine: 2-oxo-acid aminotransferase; EC 2.6.1.13). GA is one of the "Finnish genetic diseases," a group of several rare monogenic disorders that occur with increa...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.86.1.197

    authors: Mitchell GA,Brody LC,Sipila I,Looney JE,Wong C,Engelhardt JF,Patel AS,Steel G,Obie C,Kaiser-Kupfer M

    更新日期:1989-01-01 00:00:00

  • Scientific communication in a post-truth society.

    abstract::Within the scientific community, much attention has focused on improving communications between scientists, policy makers, and the public. To date, efforts have centered on improving the content, accessibility, and delivery of scientific communications. Here we argue that in the current political and media environment...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1805868115

    authors: Iyengar S,Massey DS

    更新日期:2019-04-16 00:00:00

  • Messages diffuse faster than messengers.

    abstract::In many cell-signaling pathways, information is transmitted by the diffusion of messenger molecules. Diffusion coefficients characterize the messenger's spatial range and the characteristic times of signal propagation. Inside cells, particles usually diffuse in the presence of immobile binding sites (or traps). It is ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0509576103

    authors: Pando B,Dawson SP,Mak DO,Pearson JE

    更新日期:2006-04-04 00:00:00

  • Redox-activated expression of the cytosolic copper/zinc superoxide dismutase gene in Nicotiana.

    abstract::Superoxide dismutases (SODs; superoxide: superoxide oxidoreductase, EC 1.15.1.1) play a key role in protection against oxygen radicals, and SOD gene expression is highly induced during environmental stress. To determine the conditions of SOD induction, the promoter of the cytosolic copper/zinc SOD (Cu/ZnSODcyt) gene w...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.90.7.3108

    authors: Hérouart D,Van Montagu M,Inzé D

    更新日期:1993-04-01 00:00:00

  • Histidines, heart of the hydrogen ion channel from influenza A virus: toward an understanding of conductance and proton selectivity.

    abstract::The heart of the H+ conductance mechanism in the homotetrameric M2 H+ channel from influenza A is a set of four histidine side chains. Here, we show that protonation of the third of these imidazoles coincides with acid activation of this transmembrane channel and that, at physiological pH, the channel is closed by two...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.0601944103

    authors: Hu J,Fu R,Nishimura K,Zhang L,Zhou HX,Busath DD,Vijayvergiya V,Cross TA

    更新日期:2006-05-02 00:00:00

  • Late Jurassic salamandroid from western Liaoning, China.

    abstract::A Jurassic salamander, Beiyanerpeton jianpingensis (gen. et sp. nov.), from a recently found site in western Liaoning Province, China is the earliest known record of Salamandroidea. As a Late Jurassic record of the group, it extends the range of the clade by ~40 Ma. The Late Jurassic taxon is neotenic and represented ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1009828109

    authors: Gao KQ,Shubin NH

    更新日期:2012-04-10 00:00:00

  • Unexpected central role of the androgen receptor in the spontaneous regeneration of myelin.

    abstract::Lost myelin can be replaced after injury or during demyelinating diseases in a regenerative process called remyelination. In the central nervous system (CNS), the myelin sheaths, which protect axons and allow the fast propagation of electrical impulses, are produced by oligodendrocytes. The abundance and widespread di...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1614826113

    authors: Bielecki B,Mattern C,Ghoumari AM,Javaid S,Smietanka K,Abi Ghanem C,Mhaouty-Kodja S,Ghandour MS,Baulieu EE,Franklin RJ,Schumacher M,Traiffort E

    更新日期:2016-12-20 00:00:00

  • Molecular cloning, nucleotide sequence, and expression of the gene encoding human eosinophil differentiation factor (interleukin 5).

    abstract::The human eosinophil differentiation factor (EDF) gene was cloned from a genomic library in lambda phage EMBL3A by using a murine EDF cDNA clone as a probe. The DNA sequence of a 3.2-kilobase BamHI fragment spanning the gene was determined. The gene contains three introns. The predicted amino acid sequence of 134 amin...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.84.19.6629

    authors: Campbell HD,Tucker WQ,Hort Y,Martinson ME,Mayo G,Clutterbuck EJ,Sanderson CJ,Young IG

    更新日期:1987-10-01 00:00:00

  • Apoptosis induced in Jurkat cells by several agents is preceded by intracellular acidification.

    abstract::We have previously shown that in neutrophils deprived of granulocyte colony-stimulating factor, apoptosis is preceded by acidification and that the protection against apoptosis conferred on neutrophils by granulocyte colony-stimulating factor is dependent upon delay of this acidification. To test the hypothesis that a...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.93.2.654

    authors: Gottlieb RA,Nordberg J,Skowronski E,Babior BM

    更新日期:1996-01-23 00:00:00

  • Distinct gating mechanism of SOC channel involving STIM-Orai coupling and an intramolecular interaction of Orai in Caenorhabditis elegans.

    abstract::Store-operated calcium entry (SOCE), an important mechanism of Ca2+ signaling in a wide range of cell types, is mediated by stromal interaction molecule (STIM), which senses the depletion of endoplasmic reticulum Ca2+ stores and binds and activates Orai channels in the plasma membrane. This inside-out mechanism of Ca2...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1714986115

    authors: Kim KM,Wijerathne T,Hur JH,Kang UJ,Kim IH,Kweon YC,Lee AR,Jeong SJ,Lee SK,Lee YY,Sim BW,Lee JH,Baig C,Kim SU,Chang KT,Lee KP,Park CY

    更新日期:2018-05-15 00:00:00

  • A neuronal signature for monogamous reunion.

    abstract::Pair-bond formation depends vitally on neuromodulatory signaling within the nucleus accumbens, but the neuronal dynamics underlying this behavior remain unclear. Using 1-photon in vivo Ca2+ imaging in monogamous prairie voles, we found that pair bonding does not elicit differences in overall nucleus accumbens Ca2+ act...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1917287117

    authors: Scribner JL,Vance EA,Protter DSW,Sheeran WM,Saslow E,Cameron RT,Klein EM,Jimenez JC,Kheirbek MA,Donaldson ZR

    更新日期:2020-05-19 00:00:00

  • Epigenome characterization at single base-pair resolution.

    abstract::We have combined standard micrococcal nuclease (MNase) digestion of nuclei with a modified protocol for constructing paired-end DNA sequencing libraries to map both nucleosomes and subnucleosome-sized particles at single base-pair resolution throughout the budding yeast genome. We found that partially unwrapped nucleo...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1110731108

    authors: Henikoff JG,Belsky JA,Krassovsky K,MacAlpine DM,Henikoff S

    更新日期:2011-11-08 00:00:00

  • Sequence-specific binding of counterions to B-DNA.

    abstract::Recent studies by x-ray crystallography, NMR, and molecular simulations have suggested that monovalent counterions can penetrate deeply into the minor groove of B form DNA. Such groove-bound ions potentially could play an important role in AT-tract bending and groove narrowing, thereby modulating DNA function in vivo....

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.97.2.629

    authors: Denisov VP,Halle B

    更新日期:2000-01-18 00:00:00

  • Structural and energetic determinants of adhesive binding specificity in type I cadherins.

    abstract::Type I cadherin cell-adhesion proteins are similar in sequence and structure and yet are different enough to mediate highly specific cell-cell recognition phenomena. It has previously been shown that small differences in the homophilic and heterophilic binding affinities of different type I family members can account ...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1416737111

    authors: Vendome J,Felsovalyi K,Song H,Yang Z,Jin X,Brasch J,Harrison OJ,Ahlsen G,Bahna F,Kaczynska A,Katsamba PS,Edmond D,Hubbell WL,Shapiro L,Honig B

    更新日期:2014-10-07 00:00:00

  • PILRα and PILRβ have a siglec fold and provide the basis of binding to sialic acid.

    abstract::Paired immunoglobulin-like type 2 receptor α (PILRα) and β (PILRβ) belong to the PILR family and are related to innate immune regulation in various species. Despite their high sequence identity, PILRα and PILRβ are shown to have variant sialic acid (SA) binding avidities. To explore the molecular basis of this interac...

    journal_title:Proceedings of the National Academy of Sciences of the United States of America

    pub_type: 杂志文章

    doi:10.1073/pnas.1320716111

    authors: Lu Q,Lu G,Qi J,Wang H,Xuan Y,Wang Q,Li Y,Zhang Y,Zheng C,Fan Z,Yan J,Gao GF

    更新日期:2014-06-03 00:00:00