当前位置： SCI文献检索 > PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA期刊下所有文献 > Sex-dependent association of common variants of microcephaly genes with brain structure.

Sex-dependent association of common variants of microcephaly genes with brain structure.

Abstract：

:Loss-of-function mutations in the genes associated with primary microcephaly (MCPH) reduce human brain size by about two-thirds, without producing gross abnormalities in brain organization or physiology and leaving other organs largely unaffected [Woods CG, et al. (2005) Am J Hum Genet 76:717-728]. There is also evidence suggesting that MCPH genes have evolved rapidly in primates and humans and have been subjected to selection in recent human evolution [Vallender EJ, et al. (2008) Trends Neurosci 31:637-644]. Here, we show that common variants of MCPH genes account for some of the common variation in brain structure in humans, independently of disease status. We investigated the correlations of SNPs from four MCPH genes with brain morphometry phenotypes obtained with MRI. We found significant, sex-specific associations between common, nonexonic, SNPs of the genes CDK5RAP2, MCPH1, and ASPM, with brain volume or cortical surface area in an ethnically homogenous Norwegian discovery sample (n = 287), including patients with mental illness. The most strongly associated SNP findings were replicated in an independent North American sample (n = 656), which included patients with dementia. These results are consistent with the view that common variation in brain structure is associated with genetic variants located in nonexonic, presumably regulatory, regions.

journal_name

Proc Natl Acad Sci U S A

journal_title

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

authors

Rimol LM,Agartz I,Djurovic S,Brown AA,Roddey JC,Kähler AK,Mattingsdal M,Athanasiu L,Joyner AH,Schork NJ,Halgren E,Sundet K,Melle I,Dale AM,Andreassen OA,Alzheimer's Disease Neuroimaging Initiative.

doi

10.1073/pnas.0908454107

subject

Has Abstract

pub_date

2010-01-05 00:00:00

pages

384-8

issue

1

eissn

0027-8424

issn

1091-6490

pii

0908454107

journal_volume

107

pub_type

杂志文章

相关文献

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA文献大全
  • Rapid determination of hydrogen positions and protonation states of diisopropyl fluorophosphatase by joint neutron and X-ray diffraction refinement.

    abstract：:Hydrogen atoms constitute about half of all atoms in proteins and play a critical role in enzyme mechanisms and macromolecular and solvent structure. Hydrogen atom positions can readily be determined by neutron diffraction, and as such, neutron diffraction is an invaluable tool for elucidating molecular mechanisms. Jo...

    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.0807842106

    authors： Blum MM,Mustyakimov M,Rüterjans H,Kehe K,Schoenborn BP,Langan P,Chen JC

    更新日期：2009-01-20 00:00:00

  • Identified circuit in rat postrhinal cortex encodes essential information for performing specific visual shape discriminations.

    abstract：:Learning theories hypothesize specific circuits encode essential information for performance. For simple tasks in invertebrates and mammals, the essential circuits are known, but for cognitive functions, the essential circuits remain unidentified. Here, we show that some essential information for performing a choice 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.0912950107

    authors： Zhang GR,Cao H,Kong L,O'Brien J,Baughns A,Jan M,Zhao H,Wang X,Lu XG,Cook RG,Geller AI

    更新日期：2010-08-10 00:00:00

  • Withdrawal of IL-7 induces Bax translocation from cytosol to mitochondria through a rise in intracellular pH.

    abstract：:IL-7 functions as a trophic factor during T lymphocyte development by a mechanism that is partly based on the induction of Bcl-2, which protects cells from apoptosis. Here we report a mechanism by which cytokine withdrawal activates the prodeath protein Bax. On loss of IL-7 in a dependent cell line, Bax protein transl...

    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.96.25.14476

    authors： Khaled AR,Kim K,Hofmeister R,Muegge K,Durum SK

    更新日期：1999-12-07 00:00:00

  • Replication of an origin-containing derivative of plasmid RK2 dependent on a plasmid function provided in trans.

    abstract：:pRK212.2, a derivative of the broad host range plasmid RK2, contains two EcoRI cleavage fragments, A and B, neither of which can replicate by itself in Escherichia coli. Fragment A (41.7 kilobases), but not fragment B (14.4 kilobases), can be cloned by insertion into the unrelated plasmids mini-F and ColE1. Fragment B...

    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.76.4.1648

    authors： Figurski DH,Helinski DR

    更新日期：1979-04-01 00:00:00

  • Global ensemble projections reveal trophic amplification of ocean biomass declines with climate change.

    abstract：:While the physical dimensions of climate change are now routinely assessed through multimodel intercomparisons, projected impacts on the global ocean ecosystem generally rely on individual models with a specific set of assumptions. To address these single-model limitations, we present standardized ensemble projections...

    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.1900194116

    authors： Lotze HK,Tittensor DP,Bryndum-Buchholz A,Eddy TD,Cheung WWL,Galbraith ED,Barange M,Barrier N,Bianchi D,Blanchard JL,Bopp L,Büchner M,Bulman CM,Carozza DA,Christensen V,Coll M,Dunne JP,Fulton EA,Jennings S,Jones MC,

    更新日期：2019-06-25 00:00:00

  • Autism-associated mutation inhibits protein kinase C-mediated neuroligin-4X enhancement of excitatory synapses.

    abstract：:Autism spectrum disorders (ASDs) comprise a highly heritable, multifarious group of neurodevelopmental disorders, which are characterized by repetitive behaviors and impairments in social interactions. Point mutations have been identified in X-linked Neuroligin (NLGN) 3 and 4X genes in patients with ASDs and all of th...

    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.1500501112

    authors： Bemben MA,Nguyen QA,Wang T,Li Y,Nicoll RA,Roche KW

    更新日期：2015-02-24 00:00:00

  • Unit activity in the isolated spinal cord of chick embryo, in situ.

    abstract：:Unit electrical activity was recorded from single neurons in the isolated lumbo-sacral spinal cord of 14- to 19-day chick embryos, in situ. Spinal cord transection was combined with transection of all lumbo-sacral dorsal roots. The spontaneous discharge of cells is confined, for the most part, to the lower two thirds ...

    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.66.1.40

    authors： Sharma SC,Provine RR,Hamburger V,Sandel TT

    更新日期：1970-05-01 00:00:00

  • Governance and poverty reduction in Africa.

    abstract：:A careful review of the literature in political science and neighboring social science disciplines shows that prevailing assumptions in the international development policy community about improved governance as a principal mechanism to reduce poverty in Africa rests more on faith than science. Conventional policy mod...

    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.0700696104

    authors： Hyden G

    更新日期：2007-10-23 00:00:00

  • The Candida albicans KRE9 gene is required for cell wall beta-1, 6-glucan synthesis and is essential for growth on glucose.

    abstract：:We have isolated CaKRE9, a gene from Candida albicans, that is a functional homologue of the Saccharomyces cerevisiae KRE9 gene involved in beta-1,6-glucan synthesis. Disruption of the CaKRE9 gene in C. albicans shows that CaKre9p is required for the synthesis or assembly of this fungal polymer. Homozygous null disrup...

    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.95.17.9825

    authors： Lussier M,Sdicu AM,Shahinian S,Bussey H

    更新日期：1998-08-18 00:00:00

  • A Ras activation pathway dependent on Syk phosphorylation of protein kinase C.

    abstract：:Protein kinase C (PKC) and Syk protein tyrosine kinase play critical roles in immune cell activation including that through the high-affinity IgE receptor, FcepsilonRI. Mechanisms by which PKC activation leads to the activation of Ras, a family of GTPases essential for immune cell activation, have been elusive. We pre...

    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.1633695100

    authors： Kawakami Y,Kitaura J,Yao L,McHenry RW,Kawakami Y,Newton AC,Kang S,Kato RM,Leitges M,Rawlings DJ,Kawakami T

    更新日期：2003-08-05 00:00:00

  • A normal beta-globin allele as a modifier gene ameliorating the severity of alpha-thalassemia in mice.

    abstract：:Thalassemia is a heritable human anemia caused by a variety of mutations that affect expression of the alpha- or the beta-chain of hemoglobin. The expressivity of the phenotype is likely to be influenced by unlinked modifying genes. Indeed, by using a mouse model of alpha-thalassemia, we find that its phenotype is str...

    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.96.11.6291

    authors： Leder A,Wiener E,Lee MJ,Wickramasinghe SN,Leder P

    更新日期：1999-05-25 00:00:00

  • Cardiomyocyte cyclooxygenase-2 influences cardiac rhythm and function.

    abstract：:Nonsteroidal anti-inflammatory drugs selective for inhibition of COX-2 increase heart failure and elevate blood pressure. The COX-2 gene was floxed and crossed into merCremer mice under the alpha-myosin heavy-chain promoter. Tamoxifen induced selective deletion of COX-2 in cardiomyocytes depressed cardiac output, and ...

    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.0805806106

    authors： Wang D,Patel VV,Ricciotti E,Zhou R,Levin MD,Gao E,Yu Z,Ferrari VA,Lu MM,Xu J,Zhang H,Hui Y,Cheng Y,Petrenko N,Yu Y,FitzGerald GA

    更新日期：2009-05-05 00:00:00

  • Mechanotransduction and strain amplification in osteocyte cell processes.

    abstract：:A paradox in bone tissue is that tissue-level strains due to animal and human locomotion are too small to initiate intracellular chemical responses directly. A model recently was proposed to resolve this paradox, which predicts that the fluid flow through the pericellular matrix in the lacunar-canalicular porosity due...

    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.0407429101

    authors： Han Y,Cowin SC,Schaffler MB,Weinbaum S

    更新日期：2004-11-23 00:00:00

  • A protein interaction surface in nonribosomal peptide synthesis mapped by combinatorial mutagenesis and selection.

    abstract：:Nonribosomal peptide synthetases (NRPSs) and polyketide synthases are large, multidomain enzymes that biosynthesize a number of pharmaceutically important natural products. The recognition of biosynthetic intermediates, displayed via covalent attachment to carrier proteins, by catalytic domains is critical for NRPS an...

    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.0601038103

    authors： Lai JR,Fischbach MA,Liu DR,Walsh CT

    更新日期：2006-04-04 00:00:00

  • Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease.

    abstract：:Polycystic kidney disease (PKD) is the most common genetic cause of renal failure in humans. Several proteins that are encoded by genes associated with PKD have recently been identified in primary cilia in renal tubular epithelia. These findings have suggested that abnormalities in cilia formation and function may pla...

    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.0836980100

    authors： Lin F,Hiesberger T,Cordes K,Sinclair AM,Goldstein LS,Somlo S,Igarashi P

    更新日期：2003-04-29 00:00:00

  • Transferable anticancer innate immunity in spontaneous regression/complete resistance mice.

    abstract：:Spontaneous regression/complete resistance (SR/CR) mice resist very high doses of cancer cells that are lethal to WT mice even at low doses. In this study, we show that this resistance is mediated by rapid infiltration of leukocytes, mostly of innate immunity, in both primary and repeated challenges. Formation of rose...

    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.0602382103

    authors： Hicks AM,Riedlinger G,Willingham MC,Alexander-Miller MA,Von Kap-Herr C,Pettenati MJ,Sanders AM,Weir HM,Du W,Kim J,Simpson AJ,Old LJ,Cui Z

    更新日期：2006-05-16 00:00:00

  • Casimir energy for dielectrics: spherical geometry.

    abstract：:An expression is produced for the Casimir energy of a dielectric medium with a spherically symmetrical dielectric discontinuity. Tests based on dielectric and geometrical limits are successful. ...

    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.89.23.11118

    authors： Schwinger J

    更新日期：1992-12-01 00:00:00

  • Studies on in vitro DNA synthesis. Isolation of DNA B gene product from Escherichia coli.

    abstract：:Formation of duplex DNA from varphiX174 single-stranded DNA by extracts of E. coli was previously shown to require the gene product of dna B. Using as an assay the stimulation of varphiX174 DNA-dependent synthesis in inactivated extracts of dna B temperature-sensitive cells, we purified the dna B gene product from wil...

    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.70.11.3120

    authors： Wright M,Wickner S,Hurwitz J

    更新日期：1973-11-01 00:00:00

  • Clostridium ljungdahlii represents a microbial production platform based on syngas.

    abstract：:Clostridium ljungdahlii is an anaerobic homoacetogen, able to ferment sugars, other organic compounds, or CO(2)/H(2) and synthesis gas (CO/H(2)). The latter feature makes it an interesting microbe for the biotech industry, as important bulk chemicals and proteins can be produced at the expense of CO(2), thus combining...

    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.1004716107

    authors： Köpke M,Held C,Hujer S,Liesegang H,Wiezer A,Wollherr A,Ehrenreich A,Liebl W,Gottschalk G,Dürre P

    更新日期：2010-07-20 00:00:00

  • Allosteric regulation of SERCA by phosphorylation-mediated conformational shift of phospholamban.

    abstract：:The membrane protein complex between the sarcoplasmic reticulum Ca(2+)-ATPase (SERCA) and phospholamban (PLN) controls Ca(2+) transport in cardiomyocytes, thereby modulating cardiac contractility. β-Adrenergic-stimulated phosphorylation of PLN at Ser-16 enhances SERCA activity via an unknown mechanism. Using solid-sta...

    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.1303006110

    authors： Gustavsson M,Verardi R,Mullen DG,Mote KR,Traaseth NJ,Gopinath T,Veglia G

    更新日期：2013-10-22 00:00:00

  • Direct demonstration of a correspondence between the dopamine islands and acetylcholinesterase patches in the developing striatum.

    abstract：:The distribution of dopamine-containing processes in the striatum of fetal and neonatal cats was studied by immunohistochemical and glyoxylic acid histofluorescence methods and compared to the distribution of acetylcholinesterase (acetylcholine acetylhydrolase, EC 3.1.1.7) observed by thiocholine histochemistry in the...

    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.78.9.5871

    authors： Graybiel AM,Pickel VM,Joh TH,Reis DJ,Ragsdale CW Jr

    更新日期：1981-09-01 00:00:00

  • poc1: an Arabidopsis mutant perturbed in phytochrome signaling because of a T DNA insertion in the promoter of PIF3, a gene encoding a phytochrome-interacting bHLH protein.

    abstract：:The phytochrome family of informational photoreceptors has a central role in regulating light-responsive gene expression, but the mechanism of intracellular signal transduction has remained elusive. In a genetic screen for T DNA-tagged Arabidopsis mutants affected in early signaling intermediates, we identified poc1 (...

    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.96.10.5832

    authors： Halliday KJ,Hudson M,Ni M,Qin M,Quail PH

    更新日期：1999-05-11 00:00:00

  • Improved retroviral gene transfer into murine and Rhesus peripheral blood or bone marrow repopulating cells primed in vivo with stem cell factor and granulocyte colony-stimulating factor.

    abstract：:In previous studies we showed that 5 days of treatment with granulocyte colony-stimulating factor (G-CSF) and stem cell factor (SCF) mobilized murine repopulating cells to the peripheral blood (PB) and that these cells could be efficiently transduced with retroviral vectors. We also found that, 7-14 days after cytokin...

    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.93.21.11871

    authors： Dunbar CE,Seidel NE,Doren S,Sellers S,Cline AP,Metzger ME,Agricola BA,Donahue RE,Bodine DM

    更新日期：1996-10-15 00:00:00

  • Syntrophic exchange in synthetic microbial communities.

    abstract：:Metabolic crossfeeding is an important process that can broadly shape microbial communities. However, little is known about specific crossfeeding principles that drive the formation and maintenance of individuals within a mixed population. Here, we devised a series of synthetic syntrophic communities to probe the comp...

    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.1405641111

    authors： Mee MT,Collins JJ,Church GM,Wang HH

    更新日期：2014-05-20 00:00:00

  • Harmonic dynamics of the abelian sandpile.

    abstract：:The abelian sandpile is a cellular automaton which serves as the archetypical model to study self-organized criticality, a phenomenon occurring in various biological, physical, and social processes. Its recurrent configurations form an abelian group, whose identity is a fractal composed of self-similar patches. Here, ...

    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.1812015116

    authors： Lang M,Shkolnikov M

    更新日期：2019-02-19 00:00:00

  • Two putative active centers in human angiotensin I-converting enzyme revealed by molecular cloning.

    abstract：:The amino-terminal amino acid sequence and several internal peptide sequences of angiotensin I-converting enzyme (ACE; peptidyl-dipeptidase A, kininase II; EC 3.4.15.1) purified from human kidney were used to design oligonucleotide probes. The nucleotide sequence of ACE mRNA was determined by molecular cloning of the ...

    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.85.24.9386

    authors： Soubrier F,Alhenc-Gelas F,Hubert C,Allegrini J,John M,Tregear G,Corvol P

    更新日期：1988-12-01 00:00:00

  • Multimodular biosensors reveal a novel platform for activation of G proteins by growth factor receptors.

    abstract：:Environmental cues are transmitted to the interior of the cell via a complex network of signaling hubs. Receptor tyrosine kinases (RTKs) and trimeric G proteins are two such major signaling hubs in eukaryotes. Conventionally, canonical signal transduction via trimeric G proteins is thought to be triggered exclusively ...

    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.1420140112

    authors： Midde KK,Aznar N,Laederich MB,Ma GS,Kunkel MT,Newton AC,Ghosh P

    更新日期：2015-03-03 00:00:00

  • Stochastic model of protein-protein interaction: why signaling proteins need to be colocalized.

    abstract：:Colocalization of proteins that are part of the same signal transduction pathway via compartmentalization, scaffold, or anchor proteins is an essential aspect of the signal transduction system in eukaryotic cells. If interaction must occur via free diffusion, then the spatial separation between the sources of the 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.0401314101

    authors： Batada NN,Shepp LA,Siegmund DO

    更新日期：2004-04-27 00:00:00

  • Mouse digit tip regeneration is mediated by fate-restricted progenitor cells.

    abstract：:Regeneration of appendages is frequent among invertebrates as well as some vertebrates. However, in mammals this has been largely relegated to digit tip regeneration, as found in mice and humans. The regenerated structures are formed from a mound of undifferentiated cells called a blastema, found just below the site o...

    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.1118017108

    authors： Lehoczky JA,Robert B,Tabin CJ

    更新日期：2011-12-20 00:00:00

  • Neutron-capture therapy of human cancer: in vivo results on tumor localization of boron-10-labeled antibodies to carcinoembryonic antigen in the GW-39 tumor model system.

    abstract：:Antibody against carcinoembryonic antigen (CEA) was conjugated with p-[1,2-dicarba-closo-[1-3H]do-decaboran(12)-2-yl] benzenediazonium ion by an azo-coupling reaction, resulting in 30 boron atoms per IgG molecule with no loss of antibody protein. Antibody immunoreactivity was not appreciably affected by this conjugati...

    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.81.2.560

    authors： Goldenberg DM,Sharkey RM,Primus FJ,Mizusawa E,Hawthorne MF

    更新日期：1984-01-01 00:00:00