What is the Human Variome Project? - p423

doi:10.1038/ng0407-423

Full Text - What is the Human Variome Project? | PDF (58 KB) - What is the Human Variome Project?

A database of locus-specific databases - p425

Ourania Horaitis, C Conover Talbot, Jr, Manyphong Phommarinh, Kate M Phillips & Richard G H Cotton

doi:10.1038/ng0407-425

Full Text - A database of locus-specific databases | PDF (78 KB) - A database of locus-specific databases

PharmGKB: a logical home for knowledge relating genotype to drug response phenotype - p426

Russ B Altman

doi:10.1038/ng0407-426

Full Text - PharmGKB: a logical home for knowledge relating genotype to drug response phenotype | PDF (78 KB) - PharmGKB: a logical home for knowledge relating genotype to drug response phenotype

Analysis of published PKD1 gene sequence variants - pp427 - 428

Alexander M Gout, the ADPKD Gene Variant Consortium & David Ravine

doi:10.1038/ng0407-427

Full Text - Analysis of published PKD1 gene sequence variants | PDF (119 KB) - Analysis of published PKD1 gene sequence variants | Supplementary information

Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency - pp429 - 430

Qiang Pan-Hammarström, Ulrich Salzer, Likun Du, Janne Björkander, Charlotte Cunningham-Rundles, David L Nelson, Chiara Bacchelli, H Bobby Gaspar, Steven Offer, Timothy W Behrens, Bodo Grimbacher & Lennart Hammarström

doi:10.1038/ng0407-429

Full Text - Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency | PDF (91 KB) - Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency | Supplementary information

Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency - pp430 - 431

Emanuela Castigli, Stephen Wilson, Lilit Garibyan, Rima Rachid, Francisco Bonilla, Lynda Schneider, Massimo Morra, John Curran & Raif Geha

doi:10.1038/ng0407-430

Full Text - Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency | PDF (86 KB) - Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency

Recommendations of the 2006 Human Variome Project meeting - pp433 - 436

Richard G.H. Cotton & participants of the 2006 Human Variome Project meeting

doi:10.1038/ng2024

Full Text - Recommendations of the 2006 Human Variome Project meeting | PDF (118 KB) - Recommendations of the 2006 Human Variome Project meeting | Supplementary information

The way we were? - p437

doi:10.1038/ng0407-437

Full Text - The way we were? | PDF (82 KB) - The way we were?

The resequencing imperative - pp439 - 440

Eric J Topol & Kelly A Frazer

doi:10.1038/ng0407-439

Full Text - The resequencing imperative | PDF (90 KB) - The resequencing imperative

See also: Letter by Romeo et al.

How missing genes interact - pp440 - 442

Clifford Zeyl

doi:10.1038/ng0407-440

Full Text - How missing genes interact | PDF (223 KB) - How missing genes interact

See also: Letter by Jasnos & Korona

The human promoter methylome - pp442 - 443

Daniel Zilberman

doi:10.1038/ng0407-442

Full Text - The human promoter methylome | PDF (169 KB) - The human promoter methylome

See also: Article by Weber et al.

Drosophila melanogaster neurofibromatosis-1: ROS, not Ras? - pp443 - 445

James A Walker & André Bernards

doi:10.1038/ng0407-443

Full Text - Drosophila melanogaster neurofibromatosis-1: ROS, not Ras? | PDF (237 KB) - Drosophila melanogaster neurofibromatosis-1: ROS, not Ras?

See also: Article by Tong et al.

Mitochondrial DNA mutations and aging: a case closed? - pp445 - 446

Konstantin Khrapko & Jan Vijg

doi:10.1038/ng0407-445

Full Text - Mitochondrial DNA mutations and aging: a case closed? | PDF (156 KB) - Mitochondrial DNA mutations and aging: a case closed?

See also: Letter by Vermulst et al.

Touching base - p447

doi:10.1038/ng0407-447

Full Text - Touching base | PDF (78 KB) - Touching base

Research highlights - p449

doi:10.1038/ng0407-449

Full Text - Research highlights | PDF (65 KB) - Research highlights

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome - pp451 - 453

Hiba Risheg, John M Graham, Jr, Robin D Clark, R Curtis Rogers, John M Opitz, John B Moeschler, Andreas P Peiffer, Melanie May, Sumy M Joseph, Julie R Jones, Roger E Stevenson, Charles E Schwartz & Michael J Friez

doi:10.1038/ng1992

Abstract - A recurrent mutation in : : MED12: : leading to R961W causes Opitz-Kaveggia syndrome | Full Text - A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome | PDF (163 KB) - A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome | Supplementary information

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis - pp454 - 456

Lekbir Baala, Sylvain Briault, Heather C Etchevers, Frédéric Laumonnier, Abdelhafid Natiq, Jeanne Amiel, Nathalie Boddaert, Capucine Picard, Aziza Sbiti, Abdellah Asermouh, Tania Attié-Bitach, Féréchté Encha-Razavi, Arnold Munnich, Abdelaziz Sefiani & Stanislas Lyonnet

doi:10.1038/ng1993

Abstract - Homozygous silencing of T-box transcription factor : : EOMES: : leads to microcephaly with polymicrogyria and corpus callosum agenesis | Full Text - Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis | PDF (302 KB) - Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis | Supplementary information

Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome - pp457 - 466

Michael Weber, Ines Hellmann, Michael B Stadler, Liliana Ramos, Svante Pääbo, Michael Rebhan & Dirk Schübeler

doi:10.1038/ng1990

Abstract - Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome | Full Text - Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome | PDF (552 KB) - Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome | Supplementary information

See also: News and Views by Zilberman

SMAD4-deficient intestinal tumors recruit CCR1⁺ myeloid cells that promote invasion - pp467 - 475

Takanori Kitamura, Kohei Kometani, Hiroki Hashida, Akihiro Matsunaga, Hiroyuki Miyoshi, Hisahiro Hosogi, Masahiro Aoki, Masanobu Oshima, Masakazu Hattori, Arimichi Takabayashi, Nagahiro Minato & Makoto M Taketo

doi:10.1038/ng1997

Abstract - : SMAD4: : -deficient intestinal tumors recruit CCR1: +: myeloid cells that promote invasion | Full Text - SMAD4-deficient intestinal tumors recruit CCR1+ myeloid cells that promote invasion | PDF (892 KB) - SMAD4-deficient intestinal tumors recruit CCR1+ myeloid cells that promote invasion | Supplementary information

Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster - pp476 - 485

James Jiayuan Tong, Samuel E Schriner, David McCleary, Brian J Day & Douglas C Wallace

doi:10.1038/ng2004

Abstract - Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in : Drosophila melanogaster | Full Text - Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster | PDF (455 KB) - Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster | Supplementary information

See also: News and Views by Walker & Bernards

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast - pp486 - 495

Tobias F Menne, Beatriz Goyenechea, Nuria Sánchez-Puig, Chi C Wong, Louise M Tonkin, Philip J Ancliff, Renée L Brost, Michael Costanzo, Charles Boone & Alan J Warren

doi:10.1038/ng1994

Abstract - The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast | Full Text - The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast | PDF (783 KB) - The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast | Supplementary information

Genetic basis of individual differences in the response to small-molecule drugs in yeast - pp496 - 502

Ethan O Perlstein, Douglas M Ruderfer, David C Roberts, Stuart L Schreiber & Leonid Kruglyak

doi:10.1038/ng1991

Abstract - Genetic basis of individual differences in the response to small-molecule drugs in yeast | Full Text - Genetic basis of individual differences in the response to small-molecule drugs in yeast | PDF (433 KB) - Genetic basis of individual differences in the response to small-molecule drugs in yeast | Supplementary information

A module of negative feedback regulators defines growth factor signaling - pp503 - 512

Ido Amit, Ami Citri, Tal Shay, Yiling Lu, Menachem Katz, Fan Zhang, Gabi Tarcic, Doris Siwak, John Lahad, Jasmine Jacob-Hirsch, Ninette Amariglio, Nora Vaisman, Eran Segal, Gideon Rechavi, Uri Alon, Gordon B Mills, Eytan Domany & Yosef Yarden

doi:10.1038/ng1987

Abstract - A module of negative feedback regulators defines growth factor signaling | Full Text - A module of negative feedback regulators defines growth factor signaling | PDF (598 KB) - A module of negative feedback regulators defines growth factor signaling | Supplementary information

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL - pp513 - 516

Stefano Romeo, Len A Pennacchio, Yunxin Fu, Eric Boerwinkle, Anne Tybjaerg-Hansen, Helen H Hobbs & Jonathan C Cohen

doi:10.1038/ng1984

First paragraph - Population-based resequencing of : ANGPTL4: uncovers variations that reduce triglycerides and increase HDL | Full Text - Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL | PDF (156 KB) - Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL | Supplementary information

See also: News and Views by Topol & Frazer

Stepwise replication identifies a low-producing lymphotoxin- allele as a major risk factor for early-onset leprosy - pp517 - 522

Alexandre Alcaïs, Andrea Alter, Guillemette Antoni, Marianna Orlova, Nguyen Van Thuc, Meenakshi Singh, Patrícia R Vanderborght, Kiran Katoch, Marcelo T Mira, Vu Hong Thai, Ngyuen Thu Huong, Nguyen Ngoc Ba, Milton Moraes, Narinder Mehra, Erwin Schurr & Laurent Abel

doi:10.1038/ng2000

First paragraph - Stepwise replication identifies a low-producing lymphotoxin-[alpha] allele as a major risk factor for early-onset leprosy | Full Text - Stepwise replication identifies a low-producing lymphotoxin- allele as a major risk factor for early-onset leprosy | PDF (231 KB) - Stepwise replication identifies a low-producing lymphotoxin- allele as a major risk factor for early-onset leprosy | Supplementary information

A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis - pp523 - 528

Chiea C Khor, Stephen J Chapman, Fredrik O Vannberg, Aisling Dunne, Caroline Murphy, Edmund Y Ling, Angela J Frodsham, Andrew J Walley, Otto Kyrieleis, Amir Khan, Christophe Aucan, Shelley Segal, Catrin E Moore, Kyle Knox, Sarah J Campbell, Christian Lienhardt, Anthony Scott, Peter Aaby, Oumou Y Sow, Robert T Grignani, Jackson Sillah, Giorgio Sirugo, Nobert Peshu, Thomas N Williams, Kathryn Maitland, Robert J O Davies, Dominic P Kwiatkowski, Nicholas P Day, Djamel Yala, Derrick W Crook, Kevin Marsh, James A Berkley, Luke A J O'Neill & Adrian V S Hill

doi:10.1038/ng1976

First paragraph - A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis | Full Text - A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis | PDF (263 KB) - A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis | Supplementary information

A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis - pp529 - 533

Yoshinari Miyamoto, Akihiko Mabuchi, Dongquan Shi, Toshikazu Kubo, Yoshio Takatori, Susumu Saito, Mikihiro Fujioka, Akihiro Sudo, Atsumasa Uchida, Seizo Yamamoto, Koichi Ozaki, Masaharu Takigawa, Toshihiro Tanaka, Yusuke Nakamura, Qing Jiang & Shiro Ikegawa

doi:10.1038/2005

First paragraph - A functional polymorphism in the 5[prime] UTR of : : GDF5: : is associated with susceptibility to osteoarthritis | Full Text - A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis | PDF (185 KB) - A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis | Supplementary information

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation - pp534 - 539

Gert C Scheper, Thom van der Klok, Rob J van Andel, Carola G M van Berkel, Marie Sissler, Joél Smet, Tatjana I Muravina, Sergey V Serkov, Graziella Uziel, Marianna Bugiani, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Jan A M Smeitink, Catherine Florentz, Rudy Van Coster, Jan C Pronk & Marjo S van der Knaap

doi:10.1038/ng2013

First paragraph - Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | Full Text - Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | PDF (294 KB) - Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | Supplementary information

Mitochondrial point mutations do not limit the natural lifespan of mice - pp540 - 543

Marc Vermulst, Jason H Bielas, Gregory C Kujoth, Warren C Ladiges, Peter S Rabinovitch, Tomas A Prolla & Lawrence A Loeb

doi:10.1038/ng1988

First paragraph - Mitochondrial point mutations do not limit the natural lifespan of mice | Full Text - Mitochondrial point mutations do not limit the natural lifespan of mice | PDF (169 KB) - Mitochondrial point mutations do not limit the natural lifespan of mice | Supplementary information

See also: News and Views by Khrapko & Vijg

The heterochronic maize mutant Corngrass1 results from overexpression of a tandem microRNA - pp544 - 549

George Chuck, A Mark Cigan, Koy Saeteurn & Sarah Hake

doi:10.1038/ng2001

First paragraph - The heterochronic maize mutant : Corngrass1: results from overexpression of a tandem microRNA | Full Text - The heterochronic maize mutant Corngrass1 results from overexpression of a tandem microRNA | PDF (586 KB) - The heterochronic maize mutant Corngrass1 results from overexpression of a tandem microRNA | Supplementary information

Epistatic buffering of fitness loss in yeast double deletion strains - pp550 - 554

Lukasz Jasnos & Ryszard Korona

doi:10.1038/ng1986

First paragraph - Epistatic buffering of fitness loss in yeast double deletion strains | Full Text - Epistatic buffering of fitness loss in yeast double deletion strains | PDF (273 KB) - Epistatic buffering of fitness loss in yeast double deletion strains | Supplementary information

See also: News and Views by Zeyl

Distributions of epistasis in microbes fit predictions from a fitness landscape model - pp555 - 560

Guillaume Martin, Santiago F Elena & Thomas Lenormand

doi:10.1038/ng1998

First paragraph - Distributions of epistasis in microbes fit predictions from a fitness landscape model | Full Text - Distributions of epistasis in microbes fit predictions from a fitness landscape model | PDF (273 KB) - Distributions of epistasis in microbes fit predictions from a fitness landscape model | Supplementary information

Genome-wide functional analysis of pathogenicity genes in the rice blast fungus - pp561 - 565

Junhyun Jeon, Sook-Young Park, Myoung-Hwan Chi, Jaehyuk Choi, Jongsun Park, Hee-Sool Rho, Soonok Kim, Jaeduk Goh, Sungyong Yoo, Jinhee Choi, Ju-Young Park, Mihwa Yi, Seonyoung Yang, Min-Jung Kwon, Seong-Sook Han, Byeong Ryun Kim, Chang Hyun Khang, Bongsoo Park, Se-Eun Lim, Kyongyong Jung, Sunghyung Kong, Maruthachalam Karunakaran, Hong-Sik Oh, Hyojeong Kim, Seryun Kim, Jaejin Park, Soyoung Kang, Woo-Bong Choi, Seogchan Kang & Yong-Hwan Lee

doi:10.1038/ng2002

First paragraph - Genome-wide functional analysis of pathogenicity genes in the rice blast fungus | Full Text - Genome-wide functional analysis of pathogenicity genes in the rice blast fungus | PDF (311 KB) - Genome-wide functional analysis of pathogenicity genes in the rice blast fungus | Supplementary information

Corrigendum: High-throughput oncogene mutation profiling in human cancer - p567

Roman K Thomas, Alissa C Baker, Ralph M DeBiasi, Wendy Winckler, Thomas LaFramboise, William M Lin, Meng Wang, Whei Feng, Thomas Zander, Laura E MacConnaill, Jeffrey C Lee, Rick Nicoletti, Charlie Hatton, Mary Goyette, Luc Girard, Kuntal Majmudar, Liuda Ziaugra, Kwok-Kin Wong, Stacey Gabriel, Rameen Beroukhim, Michael Peyton, Jordi Barretina, Amit Dutt, Caroline Emery, Heidi Greulich, Kinjal Shah, Hidefumi Sasaki, Adi Gazdar, John Minna, Scott A ArmstrongS A, Ingo K Mellinghoff, F Stephen Hodi, Glenn Dranoff, Paul S Mischel, Tim F Cloughesy, Stan F Nelson, Linda M Liau, Kirsten Mertz, Mark A Rubin, Holger Moch, Massimo Loda, William Catalona, Jonathan Fletcher, Sabina Signoretti, Frederic Kaye, Kenneth C Anderson, George D Demetri, Reinhard Dummer, Stephan Wagner, Meenhard Herlyn, William R Sellers, Matthew Meyerson & Levi A Garraway

doi:10.1038/ng0407-567a

Full Text - Corrigendum: High-throughput oncogene mutation profiling in human cancer | PDF (61 KB) - Corrigendum: High-throughput oncogene mutation profiling in human cancer

Corrigendum: Cross-talk and decision making in MAP kinase pathways - p567

Megan N McClean, Areez Mody, James R Broach & Sharad Ramanathan

doi:10.1038/ng0407-567b

Full Text - Corrigendum: Cross-talk and decision making in MAP kinase pathways | PDF (58 KB) - Corrigendum: Cross-talk and decision making in MAP kinase pathways

Corrigendum: A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration - p567

Anne E Hughes, Nick OrrN, Hossein Esfandiary, Martha Diaz-Torres, Timothy Goodship & Usha Chakravarthy

doi:10.1038/ng0407-567c

Full Text - Corrigendum: A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration | PDF (58 KB) - Corrigendum: A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

Corrigendum: Genome variation and evolution of the malaria parasite Plasmodium falciparum - p567

Daniel C Jeffares, Arnab Pain, Andrew Berry, Anthony V Cox, James Stalker, Catherine E Ingle, Alan Thomas, Michael A Quail, Kyle Siebenthall, Anne-Catrin Uhlemann, Sue Kyes, Sanjeev Krishna, Chris Newbold, Emmanouil T Dermitzakis & Matthew Berriman

doi:10.1038/ng0407-567d

Full Text - Corrigendum: Genome variation and evolution of the malaria parasite Plasmodium falciparum | PDF (58 KB) - Corrigendum: Genome variation and evolution of the malaria parasite Plasmodium falciparum