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  1. Allele frequencies reported from public databases or articles are mostly based on small sample sizes. Differences in genotype frequencies by age, race and sex have implications for studies designed to examine ...

    Authors: Han-Yao Huang, Lucy Thuita, Paul Strickland, Sandra C Hoffman, George W Comstock and Kathy J Helzlsouer
    Citation: BMC Genetics 2007 8:7
  2. Giant axonal neuropathy (GAN) is a hereditary neurological disorder that affects both central and peripheral nerves. The main pathological hallmark of the disease is abnormal accumulations of intermediate fila...

    Authors: Conrad L Leung, Yinghua Pang, Chang Shu, Dmitry Goryunov and Ronald KH Liem
    Citation: BMC Genetics 2007 8:6
  3. Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine LRP4 gene...

    Authors: Cord Drögemüller, Tosso Leeb, Barbara Harlizius, Imke Tammen, Ottmar Distl, Martin Höltershinken, Arcangelo Gentile, Amandine Duchesne and André Eggen
    Citation: BMC Genetics 2007 8:5
  4. Diseases of cartilage, such as arthritis and degenerative disc disease, affect the majority of the general population, particularly with ageing. Discovery and understanding of the genes and pathways involved i...

    Authors: Ming-Yiu Yeung, David K Smith, Matthew SY Chan, Cheuk M Li, Brian C Wong, Kenneth MC Cheung, Keith DK Luk, Kathryn SE Cheah, Pak Sham, Danny Chan and You-Qiang Song
    Citation: BMC Genetics 2007 8:4
  5. Late onset Alzheimer's disease (LOAD) is a common sporadic form of the illness, affecting individuals above the age of 65 yrs. A prominent hypothesis for the aetiopathology of Alzheimer's disease is that in th...

    Authors: Odity Mukherjee, John SK Kauwe, Kevin Mayo, John C Morris and Alison M Goate
    Citation: BMC Genetics 2007 8:3
  6. There are at least 25 human selenoproteins, each characterized by the incorporation of selenium into the primary sequence as the amino acid selenocysteine. Since many selenoproteins have antioxidant properties...

    Authors: Charles B Foster, Kshama Aswath, Stephen J Chanock, Heather F McKay and Ulrike Peters
    Citation: BMC Genetics 2006 7:56
  7. The link between host MHC (major histocompatibility complex) genotype and malaria is largely based on correlative data with little or no experimental control of potential confounding factors. We used an experi...

    Authors: Claus Wedekind, Mirjam Walker and Tom J Little
    Citation: BMC Genetics 2006 7:55
  8. Defining measures of linkage disequilibrium (LD) that have good small sample properties and are applicable to multiallelic markers poses some challenges. The potential of volume measures in this context has be...

    Authors: Yuguo Chen, Chia-Ho Lin and Chiara Sabatti
    Citation: BMC Genetics 2006 7:54
  9. Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked inherited disorder characterized by the excretion of large volumes of diluted urine and caused by mutations in arginine vasopressin receptor 2...

    Authors: Yan Dong, Haihui Sheng, Xueru Chen, Jun Yin and Qing Su
    Citation: BMC Genetics 2006 7:53
  10. Bovine spongiform encephalopathy (BSE) is a fatal neurological disorder characterized by abnormal deposits of a protease-resistant isoform of the prion protein. Characterizing linkage disequilibrium (LD) and h...

    Authors: Michael L Clawson, Michael P Heaton, John W Keele, Timothy PL Smith, Gregory P Harhay and William W Laegreid
    Citation: BMC Genetics 2006 7:51
  11. Genetic association studies aim at finding correlations between a disease state and genetic variations such as SNPs or combinations of SNPs, termed haplotypes. Some haplotypes have a particular biological mean...

    Authors: Cédric Coulonges, Olivier Delaneau, Manon Girard, Hervé Do, Ronald Adkins, Jean-Louis Spadoni and Jean-François Zagury
    Citation: BMC Genetics 2006 7:50
  12. Anosmin-1, the protein implicated in the X-linked Kallmann's syndrome, plays a role in axon outgrowth and branching but also in epithelial morphogenesis. The molecular mechanism of its action is, however, wide...

    Authors: Davide Andrenacci, Maria R Grimaldi, Vittorio Panetta, Elena Riano, Elena I Rugarli and Franco Graziani
    Citation: BMC Genetics 2006 7:47
  13. The Silver coat color, also called Silver dapple, in the horse is characterized by dilution of the black pigment in the hair. This phenotype shows an autosomal dominant inheritance. The effect of the mutation ...

    Authors: Emma Brunberg, Leif Andersson, Gus Cothran, Kaj Sandberg, Sofia Mikko and Gabriella Lindgren
    Citation: BMC Genetics 2006 7:46
  14. Population genetic studies of dogs have so far mainly been based on analysis of mitochondrial DNA, describing only the history of female dogs. To get a picture of the male history, as well as a second independ...

    Authors: Christian Natanaelsson, Mattias CR Oskarsson, Helen Angleby, Joakim Lundeberg, Ewen Kirkness and Peter Savolainen
    Citation: BMC Genetics 2006 7:45
  15. The Dlk1 and Gtl2 genes define a region of mouse chromosome 12 that is subject to genomic imprinting, the parental allele-specific expression of a gene. Although imprinted genes play important roles in growth and...

    Authors: Ekaterina Y Steshina, Michael S Carr, Elena A Glick, Aleksey Yevtodiyenko, Oliver K Appelbe and Jennifer V Schmidt
    Citation: BMC Genetics 2006 7:44
  16. India is a country with enormous social and cultural diversity due to its positioning on the crossroads of many historic and pre-historic human migrations. The hierarchical caste system in the Hindu society do...

    Authors: Ismail Thanseem, Kumarasamy Thangaraj, Gyaneshwer Chaubey, Vijay Kumar Singh, Lakkakula VKS Bhaskar, B Mohan Reddy, Alla G Reddy and Lalji Singh
    Citation: BMC Genetics 2006 7:42
  17. X chromosome inactivation (XCI) is that aspect of mammalian dosage compensation that brings about equivalence of X-linked gene expression between females and males by inactivating one of the two X chromosomes ...

    Authors: Stanley M Gartler, Kartik R Varadarajan, Ping Luo, Thomas H Norwood, Theresa K Canfield and R Scott Hansen
    Citation: BMC Genetics 2006 7:41
  18. Past work on asthmatic African American families revealed a strong linkage peak with modest evidence of association on chromosome 11q. Here, we perform tests of association for asthma and a panel of 609 SNPs i...

    Authors: Rasika A Mathias, Peisong Gao, Janet L Goldstein, Alexander F Wilson, Elizabeth W Pugh, Paulette Furbert-Harris, Georgia M Dunston, Floyd J Malveaux, Alkis Togias, Kathleen C Barnes, Terri H Beaty and Shau-Ku Huang
    Citation: BMC Genetics 2006 7:38
  19. Targeting the green fluorescent protein (GFP) via the E. coli lac repressor (LacI) to a specific DNA sequence, the lac operator (lacO), allows visualization of chromosomes in yeast and mammalian cells. In princip...

    Authors: Aidyl S Gonzalez-Serricchio and Paul W Sternberg
    Citation: BMC Genetics 2006 7:36
  20. Cold carcass weight (CW) and longissimus muscle area (EMA) are the major quantitative traits in beef cattle. In this study, we found several polymorphisms of growth hormone-releasing hormone (GHRH) gene and ex...

    Authors: Hyun Sub Cheong, Du-Hak Yoon, Lyoung Hyo Kim, Byung Lae Park, Yoo Hyun Choi, Eui Ryong Chung, Yong Min Cho, Eng Woo Park, Il-Cheong Cheong, Sung-Jong Oh, Sung-Gon Yi, Taesung Park and Hyoung Doo Shin
    Citation: BMC Genetics 2006 7:35
  21. Brahma (BRM) is a key component of the multisubunit SWI/SNF complex, a complex which uses the energy of ATP hydrolysis to remodel chromatin. BRM contains an N-terminal polyglutamine domain, encoded by a polymo...

    Authors: Sarojini Sengupta, Lan Xiong, Ferid Fathalli, Chawki Benkelfat, Karim Tabbane, Zoltan Danics, Alain Labelle, Samarthji Lal, Marie-Odile Krebs, Guy Rouleau and Ridha Joober
    Citation: BMC Genetics 2006 7:34
  22. The asymmetric segregation of determinants during cell division is a fundamental mechanism for generating cell fate diversity during development. In Drosophila, neural precursors (neuroblasts) divide in a stem ce...

    Authors: Cathy Slack, W Gregory Somers, Rita Sousa-Nunes, William Chia and Paul M Overton
    Citation: BMC Genetics 2006 7:33
  23. The acquisition of high-quality DNA for use in phylogenetic and molecular population genetic studies is a primary concern for evolutionary and genetic researchers. Many non-destructive DNA sampling methods hav...

    Authors: James J Campanella and John V Smalley
    Citation: BMC Genetics 2006 7:32
  24. High-throughput genotyping generates vast amounts of data for analysis; results can be difficult to summarize succinctly. A single project may involve genotyping many genes with multiple variants per gene and ...

    Authors: Daniel Levy, Steven R DePalma, Emelia J Benjamin, Christopher J O'Donnell, Helen Parise, Joel N Hirschhorn, Ramachandran S Vasan, Seigo Izumo and Martin G Larson
    Citation: BMC Genetics 2006 7:30
  25. Cholesterol 7-alpha-hydroxylase (CYP7A1) is the rate limiting enzyme for converting cholesterol into bile acids. Genetic variations in the CYP7A1 gene have been associated with metabolic disorders of cholester...

    Authors: Kaori Nakamoto, Shuang Wang, Robert D Jenison, Grace L Guo, Curtis D Klaassen, Yu-Jui Yvonne Wan and Xiao-bo Zhong
    Citation: BMC Genetics 2006 7:29
  26. Indian populations endowed with unparalleled genetic complexity have received a great deal of attention from scientists world over. However, the fundamental question over their ancestry, whether they are all g...

    Authors: VK Kashyap, Saurav Guha, T Sitalaximi, G Hima Bindu, Seyed E Hasnain and R Trivedi
    Citation: BMC Genetics 2006 7:28
  27. Egg production is of critical importance in birds not only for their reproduction but also for human consumption as the egg is a highly nutritive and balanced food. Consequently, laying in poultry has been imp...

    Authors: Francis Minvielle, Boniface B Kayang, Miho Inoue-Murayama, Mitsuru Miwa, Alain Vignal, David Gourichon, André Neau, Jean-Louis Monvoisin and Shin' ichi Ito
    Citation: BMC Genetics 2006 7:26
  28. Inguinal and scrotal hernias are of great concern to pig producers, and lead to poor animal welfare and severe economic loss. Selection against these conditions is highly preferable, but at this time no gene, ...

    Authors: Eli Grindflek, Maren Moe, Helge Taubert, Henner Simianer, Sigbjørn Lien and Thomas Moen
    Citation: BMC Genetics 2006 7:25
  29. In the field of statistical genetics, phenotype and genotype misclassification errors can substantially reduce power to detect association with genetic case/control studies. Misclassification also can bias pop...

    Authors: Sandra Barral, Chad Haynes, Millicent Stone and Derek Gordon
    Citation: BMC Genetics 2006 7:24
  30. Genetic epidemiologists have taken the challenge to identify genetic polymorphisms involved in the development of diseases. Many have collected data on large numbers of genetic markers but are not familiar wit...

    Authors: A Geert Heidema, Jolanda MA Boer, Nico Nagelkerke, Edwin CM Mariman, Daphne L van der A and Edith JM Feskens
    Citation: BMC Genetics 2006 7:23
  31. Type 1 diabetes (T1D) is a common autoimmune disease resulting from T-cell mediated destruction of pancreatic beta cells. Decay accelerating factor (DAF, CD55), a glycosylphosphatidylinositol-anchored membrane...

    Authors: Hidenori Taniguchi, Christopher E Lowe, Jason D Cooper, Deborah J Smyth, Rebecca Bailey, Sarah Nutland, Barry C Healy, Alex C Lam, Oliver Burren, Neil M Walker, Luc J Smink, Linda S Wicker and John A Todd
    Citation: BMC Genetics 2006 7:22
  32. Studies of model-based linkage analysis show that trait or marker model misspecification leads to decreasing power or increasing Type I error rate. An increase in Type I error rate is seen when marker related ...

    Authors: Diptasri M Mandal, Alexa JM Sorant, Larry D Atwood, Alexander F Wilson and Joan E Bailey-Wilson
    Citation: BMC Genetics 2006 7:21
  33. The recent advances in genotyping and molecular techniques have greatly increased the knowledge of the human genome structure. Millions of polymorphisms are reported and freely available in public databases. A...

    Authors: Emmanuelle Cousin, Jean-Francois Deleuze and Emmanuelle Genin
    Citation: BMC Genetics 2006 7:20
  34. The National Bio Resource Project for the Rat in Japan (NBRP-Rat) is focusing on collecting, preserving and distributing various rat strains, including spontaneous mutant, transgenic, congenic, and recombinant...

    Authors: Tomoji Mashimo, Birger Voigt, Toshiko Tsurumi, Kuniko Naoi, Satoshi Nakanishi, Ken-ichi Yamasaki, Takashi Kuramoto and Tadao Serikawa
    Citation: BMC Genetics 2006 7:19
  35. From the original CftrTgH(neoim)Hgumutant mouse model with a divergent genetic background (129P2, C57BL/6, MF1) we have generated two inbred CftrTgH(neoim)Hgumutant strains named CF/1-CftrTgH(neoim)Hguand CF/3-Cf...

    Authors: Nikoletta Charizopoulou, Martina Wilke, Martina Dorsch, Alice Bot, Huub Jorna, Silke Jansen, Frauke Stanke, Hans J Hedrich, Hugo R de Jonge and Burkhard Tümmler
    Citation: BMC Genetics 2006 7:18
  36. A major QTL for fatness and growth, denoted FAT1, has previously been detected on pig chromosome 4q (SSC4q) using a Large White – wild boar intercross. Progeny that carried the wild boar allele at this locus had ...

    Authors: Frida Berg, Susanne Stern, Kjell Andersson, Leif Andersson and Maria Moller
    Citation: BMC Genetics 2006 7:17
  37. The amount of genome-wide molecular data is increasing rapidly, as is interest in developing methods appropriate for such data. There is a consequent increasing need for methods that are able to efficiently si...

    Authors: Paul Marjoram and Jeff D Wall
    Citation: BMC Genetics 2006 7:16
  38. The proportion of muscle fibre types and their size affect muscularity as well as functional properties of the musculature and meat quality. We aimed to identify QTL for microstructural muscle properties inclu...

    Authors: Klaus Wimmers, Ilse Fiedler, Torsten Hardge, Eduard Murani, Karl Schellander and Siriluck Ponsuksili
    Citation: BMC Genetics 2006 7:15
  39. Among the possible candidate genes for atherosclerosis experimental data point towards the longevity gene p66Shc. The p66Shc gene determines an increase of intracellular reactive oxygen species (ROS), affecting t...

    Authors: Federica Sentinelli, Stefano Romeo, Fabrizio Barbetti, Andrea Berni, Emanuela Filippi, Marzia Fanelli, Mara Fallarino and Marco G Baroni
    Citation: BMC Genetics 2006 7:14

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