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  1. A previous meta-analysis reported a positive association between an insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme gene (ACE) and the risk of acute lung injury (ALI)/acute respiratory ...

    Authors: Akihisa Matsuda, Taro Kishi, Asha Jacob, Monowar Aziz and Ping Wang
    Citation: BMC Medical Genetics 2012 13:76
    Content type: Research article Published on:

  2. Autistic spectrum disorders (ASDs) are a family of neurodevelopmental disorders with strong genetic components. Recent studies have shown that copy number variations in dosage sensitive genes can contribute si...

    Authors: Xiu Xu, Qiong Xu, Ying Zhang, Xiaodi Zhang, Tianlin Cheng, Bingbing Wu, Yanhua Ding, Ping Lu, Jingjing Zheng, Min Zhang, Zilong Qiu and Xiang Yu
    Citation: BMC Medical Genetics 2012 13:75
    Content type: Case report Published on:

  3. Plasma level of total homocysteine (tHcy) is negatively correlated with kidney function in general population. However, the causal mechanism of this correlation is poorly understood. The purpose of this study ...

    Authors: Qing Dong, Genfu Tang, Mingli He, Yunqing Cai, Yefeng Cai, Houxun Xing, Liming Sun, Jianping Li, Yan Zhang, Fangfang Fan, Binyan Wang, Ningling Sun, Lisheng Liu, Xiping Xu, Fanfan Hou, Hongbing Shen…
    Citation: BMC Medical Genetics 2012 13:74
    Content type: Research article Published on:

  4. Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females manifesting symptoms have also been reported. They r...

    Authors: Simona Brioschi, Francesca Gualandi, Chiara Scotton, Annarita Armaroli, Matteo Bovolenta, Maria S Falzarano, Patrizia Sabatelli, Rita Selvatici, Adele D’Amico, Marika Pane, Giulia Ricci, Gabriele Siciliano, Silvana Tedeschi, Antonella Pini, Liliana Vercelli, Domenico De Grandis…
    Citation: BMC Medical Genetics 2012 13:73
    Content type: Research article Published on:

  5. Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) ...

    Authors: Sebastien Levesque, Charles Morin, Simon-Pierre Guay, Josee Villeneuve, Pascale Marquis, Wing Yan Yik, Sarn Jiralerspong, Luigi Bouchard, Steven Steinberg, Joseph G Hacia, Ken Dewar and Nancy E Braverman
    Citation: BMC Medical Genetics 2012 13:72
    Content type: Research article Published on:

  6. Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe pheno...

    Authors: Neil A Hanchard, Claudia MB Carvalho, Patricia Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P Schaaf, Melissa B Ramocki, James R Lupski and Sau Wai Cheung
    Citation: BMC Medical Genetics 2012 13:71
    Content type: Research article Published on:

  7. Iron involvement/imbalance is strongly suspected in multiple sclerosis (MS) etiopathogenesis, but its role is quite debated. Iron deposits encircle the veins in brain MS lesions, increasing local metal concent...

    Authors: Donato Gemmati, Giulia Zeri, Elisa Orioli, Francesca E De Gaetano, Fabrizio Salvi, Ilaria Bartolomei, Sandra D’Alfonso, Claudia Dall’Osso, Maurizio A Leone, Ajay V Singh, Rosanna Asselta and Paolo Zamboni
    Citation: BMC Medical Genetics 2012 13:70
    Content type: Research article Published on:

  8. Troponin I (TNNI3) is the inhibitory subunit of the thin filament regulatory complex Troponin, which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Mutations (2-7%) in this gene had be...

    Authors: Deepa Selvi Rani, Pratibha Nallari, Singh Priyamvada, Calambur Narasimhan, Lalji Singh and Kumarasamy Thangaraj
    Citation: BMC Medical Genetics 2012 13:69
    Content type: Research article Published on:

  9. Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first po...

    Authors: Hiart Maortua, Cristina Martínez-Bouzas, María-Teresa Calvo, Maria-Rosario Domingo, Feliciano Ramos, Ainhoa García-Ribes, María-Jesús Martínez, María-Asunción López-Aríztegui, Nerea Puente, Izaskun Rubio and María-Isabel Tejada
    Citation: BMC Medical Genetics 2012 13:68
    Content type: Research article Published on:

  10. The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD) caused by recessive mutations in the gene ABCA4. However, high phenotypic and allelic heterogeneity and...

    Authors: Samuel P Strom, Yong-Qing Gao, Ariadna Martinez, Carolina Ortube, Zugen Chen, Stanley F Nelson, Steven Nusinowitz, Deborah B Farber and Michael B Gorin
    Citation: BMC Medical Genetics 2012 13:67
    Content type: Research article Published on:

  11. The Toll-like receptor proteins are important in host defense and initiation of the innate and adaptive immune responses. A number of studies have identified associations between genetic variation in the Toll-...

    Authors: Daniel Nilsson, Anand Kumar Andiappan, Christer Halldén, Wang De Yun, Torbjörn Säll, Chew Fook Tim and Lars-Olaf Cardell
    Citation: BMC Medical Genetics 2012 13:66
    Content type: Research article Published on:

  13. The UMODL1 gene was found to be associated with high myopia in Japanese. This study aimed to investigate this gene for association with high myopia in Chinese.

    Authors: Miao-miao Zhu, Maurice KH Yap, Daniel WH Ho, Wai Yan Fung, Po Wah Ng, Yang-shun Gu and Shea Ping Yip
    Citation: BMC Medical Genetics 2012 13:64
    Content type: Research article Published on:

  15. Neural tube defects (NTDs) are common birth defects (~1 in 1000 pregnancies in the US and Europe) that have complex origins, including environmental and genetic factors. A low level of maternal folate is one w...

    Authors: Faith Pangilinan, Anne M Molloy, James L Mills, James F Troendle, Anne Parle-McDermott, Caroline Signore, Valerie B O’Leary, Peter Chines, Jessica M Seay, Kerry Geiler-Samerotte, Adam Mitchell, Julia E VanderMeer, Kristine M Krebs, Angelica Sanchez, Joshua Cornman-Homonoff, Nicole Stone…
    Citation: BMC Medical Genetics 2012 13:62
    Content type: Research article Published on:

  16. To explore the association of ALOX5AP single nucleotide polymorphisms (SNPs) and haplotype with the occurrence of cerebral infarction in the Han population of northern China.

    Authors: Shuang-yan Zhang, Mei-ling Xu, Cui-e Zhang, Zheng-yi Qu, Bin-bin Zhang, Zu-yan Zheng and Li-ming Zhang
    Citation: BMC Medical Genetics 2012 13:61
    Content type: Research article Published on:

  17. Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology which has been described in children as well as in adults with and without chromosomal aberrations. LVHT ha...

    Authors: Bert Nagel, Ursula Gruber-Sedlmayr, Sabine Uhrig, Claudia Stöllberger, Eva Klopocki and Josef Finsterer
    Citation: BMC Medical Genetics 2012 13:60
    Content type: Case report Published on:

  18. CpG island aberrant methylation is shown to be an important mechanism in gene silencing. The important role of IL-17 in inflammatory response to H. pylori colonization has been indicated. We investigated the infl...

    Authors: Tomiyasu Arisawa, Tomomitsu Tahara, Mikihiro Tsutsumi and Tomoyuki Shibata
    Citation: BMC Medical Genetics 2012 13:59
    Content type: Research article Published on:

  19. Chronic kidney disease progression has been linked to pro-inflammatory cytokines and markers of inflammation. These markers are also elevated in end-stage renal disease (ESRD), which constitutes a serious publ...

    Authors: Ma Angeles Jimenez-Sousa, Elisabeth López, Amanda Fernandez-Rodríguez, Eduardo Tamayo, Pablo Fernández-Navarro, Laura Segura-Roda, María Heredia, José I Gómez-Herreras, Jesús Bustamante, Juan Miguel García-Gómez, Jesús F Bermejo-Martin and Salvador Resino
    Citation: BMC Medical Genetics 2012 13:58
    Content type: Research article Published on:

  20. Renalase (gene name RNLS), a recently discovered enzyme with monoamine oxidase activity, is implicated in the degradation of catecholamines. Recent studies delineate a possible role of this enzyme in blood pressu...

    Authors: Cristiano Fava, Martina Montagnana, Elisa Danese, Marketa Sjögren, Peter Almgren, Gunnar Engström, Bo Hedblad, Gian Cesare Guidi, Pietro Minuz and Olle Melander
    Citation: BMC Medical Genetics 2012 13:57
    Content type: Research article Published on:

  21. Germline mutations of BRCA1/2 are associated with hereditary breast and ovarian cancer. Recent data suggests excess mortality in mutation carriers beyond that conferred by neoplasia, and recent in vivo and in vit...

    Authors: Kevin Zbuk, Changchun Xie, Robin Young, Mahyar Heydarpour, Guillaume Pare, A Darlene Davis, Ruby Miller, Matthew B Lanktree, Danish Saleheen, John Danesh, Salim Yusuf, James C Engert, Robert A Hegele and Sonia S Anand
    Citation: BMC Medical Genetics 2012 13:56
    Content type: Research article Published on:

  22. Familial adenomatous polyposis (FAP) is a hereditary colorectal cancer syndrome caused by a loss of function of the APC gene. Large deletions in APC are a common cause of FAP; despite the existence of a variety o...

    Authors: Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Ana Cristina Victorino Krepischi, Érika Maria Monteiro dos Santos, Benedito Mauro Rossi and Dirce Maria Carraro
    Citation: BMC Medical Genetics 2012 13:55
    Content type: Research article Published on:

  23. von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome in which the patients develop retinal and central nervous system hemangioblastomas, pheochromocytomas and clear-cell renal tumors. The autosomal ...

    Authors: Mette Dandanell, Lennart Friis-Hansen, Lone Sunde, Finn C Nielsen and Thomas v O Hansen
    Citation: BMC Medical Genetics 2012 13:54
    Content type: Research article Published on:

  24. The role of cyclooxygenase-2 (COX-2) single nucleotide polymorphisms has mostly been studied in relation to advanced atherosclerosis, but little is known how they contribute to preclinical disease. In the present...

    Authors: Kati Lähteelä, Tarja Kunnas, Leo-Pekka Lyytikäinen, Nina Mononen, Leena Taittonen, Tomi Laitinen, Johannes Kettunen, Markus Juonala, Nina Hutri-Kähönen, Mika Kähönen, Jorma S Viikari, Olli T Raitakari, Terho Lehtimäki and Seppo T Nikkari
    Citation: BMC Medical Genetics 2012 13:32
    Content type: Research article Published on:

  25. While some factors of breast morphology, such as density, are directly implicated in breast cancer, the relationship between breast size and cancer is less clear. Breast size is moderately heritable, yet the g...

    Authors: Nicholas Eriksson, Geoffrey M Benton, Chuong B Do, Amy K Kiefer, Joanna L Mountain, David A Hinds, Uta Francke and Joyce Y Tung
    Citation: BMC Medical Genetics 2012 13:53
    Content type: Research article Published on:

  26. We used a gene – based replication strategy to test the reproducibility of prior acute lung injury (ALI) candidate gene associations.

    Authors: Nuala J Meyer, Zhongyin John Daye, Melanie Rushefski, Richard Aplenc, Paul N Lanken, Michael GS Shashaty, Jason D Christie and Rui Feng
    Citation: BMC Medical Genetics 2012 13:52
    Content type: Research article Published on:

  27. Multiple investigators have established the feasibility of using buccal brush samples to genotype single nucleotide polymorphisms (SNPs) with high-density genome-wide microarrays, but there is currently no con...

    Authors: Stephen W Erickson, Stewart L MacLeod and Charlotte A Hobbs
    Citation: BMC Medical Genetics 2012 13:51
    Content type: Research article Published on:

  28. The neuronal ceroid lipofuscinoses (NCLs, or Batten disease) comprise the most common Mendelian form of childhood-onset neurodegeneration, but the functions of the known underlying gene products remain poorly ...

    Authors: John F Staropoli, Winnie Xin, Rosemary Barone, Susan L Cotman and Katherine B Sims
    Citation: BMC Medical Genetics 2012 13:50
    Content type: Case report Published on:

  29. The sexual dimorphism of hepatitis B virus (HBV) -related liver diseases is related with estrogen and its receptors. Recent reports indicate that abnormal expression of estrogen receptor alpha (ESR1) may be a ...

    Authors: Zehui Yan, Wenting Tan, Yunjie Dan, Wenli Zhao, Chunqing Deng, Yuming Wang and Guohong Deng
    Citation: BMC Medical Genetics 2012 13:49
    Content type: Research article Published on:

  30. Huntington disease (HD) is caused by an expanded CAG repeat in the HD gene. Although the length of the CAG repeat strongly correlates with the age-at-onset (AAO), AAO in HD individuals may differ dramatically in ...

    Authors: Yu-Chun Tsai, Silke Metzger, Olaf Riess, Anne S Soehn and Huu Phuc Nguyen
    Citation: BMC Medical Genetics 2012 13:48
    Content type: Research article Published on:

  31. A recent genome-wide association study (GWAS) using chronic HBV (hepatitis B virus) carriers with and without hepatocellular carcinoma (HCC) in five independent Chinese populations found that one SNP (rs174019...

    Authors: Hiromi Sawai, Nao Nishida, Hamdi Mbarek, Koichi Matsuda, Yoriko Mawatari, Megumi Yamaoka, Shuhei Hige, Jong-Hon Kang, Koichi Abe, Satoshi Mochida, Masaaki Watanabe, Masayuki Kurosaki, Yasuhiro Asahina, Namiki Izumi, Masao Honda, Shuichi Kaneko…
    Citation: BMC Medical Genetics 2012 13:47
    Content type: Research article Published on:

  32. Genetic variants are likely to contribute to a portion of prostate cancer risk. Full elucidation of the genetic etiology of prostate cancer is difficult because of incomplete penetrance and genetic and phenoty...

    Authors: Joan E Bailey-Wilson, Erica J Childs, Cheryl D Cropp, Daniel J Schaid, Jianfeng Xu, Nicola J Camp, Lisa A Cannon-Albright, James M Farnham, Asha George, Isaac Powell, John D Carpten, Graham G Giles, John L Hopper, Gianluca Severi, Dallas R English, William D Foulkes…
    Citation: BMC Medical Genetics 2012 13:46
    Content type: Research article Published on:

  33. The enzymes of the cytochrome P450 family (CYPs) play an important role in the metabolism of a great variety of anticancer agents; therefore, polymorphisms in genes encoding for metabolizing enzymes and drugs ...

    Authors: Tatyana A Seredina, Olga B Goreva, Valeria O Talaban, Alevtina Yu Grishanova and Vyacheslav V Lyakhovich
    Citation: BMC Medical Genetics 2012 13:45
    Content type: Research article Published on:

  34. Natriuretic peptides (NPs) are peptide hormones that exert their biological actions by binding to three types of cell surface natriuretic peptide receptors (NPRs). The receptor NPR-B binding C-type natriuretic...

    Authors: Saadullah Khan, Raja Hussain Ali, Sanaullah Abbasi, Muhammad Nawaz, Noor Muhammad and Wasim Ahmad
    Citation: BMC Medical Genetics 2012 13:44
    Content type: Research article Published on:

  35. Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. Mutations in NIPBL gen...

    Authors: Jolanta Wierzba, María Concepción Gil-Rodríguez, Anna Polucha, Beatriz Puisac, María Arnedo, María Esperanza Teresa-Rodrigo, Dorota Winnicka, Fausto G Hegardt, Feliciano J Ramos, Janusz Limon and Juan Pié
    Citation: BMC Medical Genetics 2012 13:43
    Content type: Case report Published on:

  36. Insulin like growth factor 2 (IGF2) is an imprinted gene, which has an important role in fetal growth as established in mice models. IGF2 is downregulated through hypomethylation of a differentially methylated re...

    Authors: Rinki Murphy, Lourdes Ibáñez, Andrew Hattersley and Jörg Tost
    Citation: BMC Medical Genetics 2012 13:42
    Content type: Research article Published on:

  37. To date, evaluation of the association of the ABO blood group and breast cancer has yielded mixed results. SNP rs505922, located within the first intron of the ABO gene, has been associated with the adenocarci...

    Authors: Seth Rummel, Craig D Shriver and Rachel E Ellsworth
    Citation: BMC Medical Genetics 2012 13:41
    Content type: Research article Published on:

  40. Telomere length, an indicator of ageing and longevity, has been correlated with several biomarkers of cardiometabolic disease in both Arab children and adults. It is not known, however, whether or not telomere...

    Authors: Omar S Al-Attas, Nasser M Al-Daghri, Majed S Alokail, Khalid M Alkharfy, Assim A Alfadda, Philip McTernan, Greg C Gibson, Shaun B Sabico and George P Chrousos
    Citation: BMC Medical Genetics 2012 13:38
    Content type: Research article Published on:

  41. Ficolin-2 coded by FCN2 gene is a soluble serum protein and an innate immune recognition element of the complement system. FCN2 gene polymorphisms reveal distinct geographical patterns and are documented to alter...

    Authors: Olusola Ojurongbe, Eman Abou Ouf, Hoang Van Tong, Nguyen L Toan, Le H Song, Paola R Luz, Iara JT Messias-Reason, Dennis Nurjadi, Philipp Zanger, Jürgen FJ Kun, Peter G Kremsner and Thirumalaisamy P Velavan
    Citation: BMC Medical Genetics 2012 13:37
    Content type: Research article Published on:

  42. Recent genome-wide association studies have identified a single nucleotide polymorphism within the last intron of MAP2K5 associated with a higher body mass index (BMI) in adults. MAP2K5 is a component of the M...

    Authors: Mathias Rask-Andersen, Josefin A Jacobsson, George Moschonis, Anna E Ek, George P Chrousos, Claude Marcus, Yannis Manios, Robert Fredriksson and Helgi B Schiöth
    Citation: BMC Medical Genetics 2012 13:36
    Content type: Research article Published on:

  43. MicroRNAs (miRNAs) are post-transcriptional regulators involved in numerous biological processes including the pathogenesis of Alzheimer’s disease (AD). A key gene of AD, ADAM10, controls the proteolytic processi...

    Authors: Regina Augustin, Kristina Endres, Sven Reinhardt, Peer-Hendrik Kuhn, Stefan F Lichtenthaler, Jens Hansen, Wolfgang Wurst and Dietrich Trümbach
    Citation: BMC Medical Genetics 2012 13:35
    Content type: Research article Published on:

  44. Hyperhomocysteinemia as a consequence of the MTHFR 677 C > T variant is associated with cardiovascular disease and stroke. Another factor that can potentially contribute to these disorders is a depleted nitric...

    Authors: Keat Wei Loo, Lyn Robyn Griffiths and Siew Hua Gan
    Citation: BMC Medical Genetics 2012 13:34
    Content type: Research article Published on:

  45. Immunoglobulin A nephropathy (IgAN), an immune-complex-mediated glomerulonephritis defined immunohistologically by the presence of glomerular IgA deposits, is the most common primary glomerular disease worldwi...

    Authors: Yang Jiyun, Li Guisen, Zhu Li, Shi Yi, Lv Jicheng, Lu Fang, Liu Xiaoqi, Ma Shi, Jing Cheng, Lin Ying, Wang Haiyan, Wang Li, Zhang Hong and Yang Zhenglin
    Citation: BMC Medical Genetics 2012 13:33
    Content type: Research article Published on:

  46. Currently, the TNM classification of malignant tumours based on clinicopathological staging remains the standard for colorectal cancer (CRC) prognostication. Recently, we identified the mitochondrial oxidative...

    Authors: Jesus Lascorz, Melanie Bevier, Witigo V Schönfels, Holger Kalthoff, Heiko Aselmann, Jan Beckmann, Jan Egberts, Stephan Buch, Thomas Becker, Stefan Schreiber, Jochen Hampe, Kari Hemminki, Asta Försti and Clemens Schafmayer
    Citation: BMC Medical Genetics 2012 13:31
    Content type: Research article Published on:

  47. Hemoglobin A1c (HbA1c) levels diagnose diabetes, predict mortality and are associated with ten single nucleotide polymorphisms (SNPs) in white individuals. Genetic associations in other race groups are not known....

    Authors: Jonna L Grimsby, Bianca C Porneala, Jason L Vassy, Quanhe Yang, José C Florez, Josée Dupuis, Tiebin Liu, Ajay Yesupriya, Man-Huei Chang, Renee M Ned, Nicole F Dowling, Muin J Khoury and James B Meigs
    Citation: BMC Medical Genetics 2012 13:30
    Content type: Research article Published on:

  48. Polymorphisms within the MTHFD1L gene were previously associated with risk of neural tube defects in Ireland. We sought to test the most significant MTHFD1L polymorphisms for an association with risk of cleft in ...

    Authors: Stefano Minguzzi, Anne M Molloy, Kirke Peadar, James Mills, John M Scott, James Troendle, Faith Pangilinan, Lawrence Brody and Anne Parle-McDermott
    Citation: BMC Medical Genetics 2012 13:29
    Content type: Technical advance Published on:

  49. The "PTEN hamartoma tumor syndrome" (PHTS) includes a group of syndromes caused by germline mutations within the tumor suppressor gene "phosphatase and tensin homolog deleted on chromosome ten" (PTEN), characteri...

    Authors: Martina Galatola, Lorella Paparo, Francesca Duraturo, Mimmo Turano, Giovanni Battista Rossi, Paola Izzo and Marina De Rosa
    Citation: BMC Medical Genetics 2012 13:28
    Content type: Research article Published on:

  50. A recent genome wide association study in 1017 African Americans identified several single nucleotide polymorphisms that reached genome-wide significance for systolic blood pressure. We attempted to replicate ...

    Authors: Srividya Kidambi, Soumitra Ghosh, Jane M Kotchen, Clarence E Grim, Shanthi Krishnaswami, Mary L Kaldunski, Allen W Cowley Jr, Shailendra B Patel and Theodore A Kotchen
    Citation: BMC Medical Genetics 2012 13:27
    Content type: Research article Published on:

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