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  1. CALM1 gene encodes calmodulin (CaM), an important and ubiquitous eukaryotic Ca2+-binding protein. Several studies have indicated that a deficient CaM function is likely to be involved in the pathogenesis of oste...

    Authors: Dongquan Shi, Haijian Ni, Jin Dai, Jianghui Qin, Yong Xu, Lunqing Zhu, Chen Yao, Zhenxing Shao, Dongyang Chen, Zhihong Xu, Long Yi, Shiro Ikegawa and Qing Jiang
    Citation: BMC Medical Genetics 2008 9:91
  2. Body fat mass distribution and deposition are determined by multiple environmental and genetic factors. Obesity is associated with insulin resistance, hyperinsulinemia, and type 2 diabetes. We previously ident...

    Authors: Nora Franceschini, Laura Almasy, Jean W MacCluer, Harald HH Göring, Shelley A Cole, Vincent P Diego, Sandra Laston, Barbara V Howard, Elisa T Lee, Lyle G Best, Richard R Fabsitz and Kari E North
    Citation: BMC Medical Genetics 2008 9:90
  3. Prader-Willi syndrome (PWS) is a rare multisystem genetic disease leading to severe complications mainly related to obesity. We strongly lack information on the natural history of this complex disease and on w...

    Authors: Catherine Molinas, Laurent Cazals, Gwenaelle Diene, Melanie Glattard, Catherine Arnaud and Maithe Tauber
    Citation: BMC Medical Genetics 2008 9:89
  4. Autosomal dominant Holt-Oram syndrome (HOS) is caused by mutations in the TBX5 gene and is characterized by congenital heart and preaxial radial ray upper limb defects. Most of the TBX5 mutations found in patient...

    Authors: Johann Böhm, Wolfram Heinritz, Alexander Craig, Mihailo Vujic, Britt-Marie Ekman-Joelsson, Jürgen Kohlhase and Ursula Froster
    Citation: BMC Medical Genetics 2008 9:88
  5. KCNQ1 and KCNH2 are the two most common potassium channel genes causing long QT syndrome (LQTS), an inherited cardiac arrhythmia featured by QT prolongation and increased risks of developing torsade de pointes a...

    Authors: Xianqin Zhang, Shenghan Chen, Li Zhang, Mugen Liu, Sharon Redfearn, Randall M Bryant, Carlos Oberti, G Michael Vincent and Qing K Wang
    Citation: BMC Medical Genetics 2008 9:87
  6. Two high-risk genes have been implicated in the development of CM (cutaneous melanoma). Germline mutations of the CDKN2A gene are found in < 25% of melanoma-prone families and there are only seven families wit...

    Authors: Barbara Peric, Petra Cerkovnik, Srdjan Novakovic, Janez Zgajnar, Nikola Besic and Marko Hocevar
    Citation: BMC Medical Genetics 2008 9:86
  7. We have previously identified strong association of six single nucleotide polymorphisms (SNPs) in FTO (fat mass and obesity associated gene) to early onset extreme obesity within the first genome wide association...

    Authors: Timo D Müller, Anke Hinney, André Scherag, Thuy T Nguyen, Felix Schreiner, Helmut Schäfer, Johannes Hebebrand, Christian L Roth and Thomas Reinehr
    Citation: BMC Medical Genetics 2008 9:85
  8. The goal of the present study was to assess the effect of genetic variability at the APOA5/A4/C3/A1 cluster locus on the risk of metabolic syndrome.

    Authors: Jean Dallongeville, Dominique Cottel, Aline Wagner, Pierre Ducimetière, Jean-Bernard Ruidavets, Dominique Arveiler, Annie Bingham, Jean Ferrières, Philippe Amouyel and Aline Meirhaeghe
    Citation: BMC Medical Genetics 2008 9:84
  9. Both recurrent and population specific mutations have been found in different areas of the world and more specifically in ethnically defined or isolated populations. The population of Slovenia has over several...

    Authors: Mateja Krajc, Erik Teugels, Janez Zgajnar, Guido Goelen, Nikola Besic, Srdjan Novakovic, Marko Hocevar and Jacques De Grève
    Citation: BMC Medical Genetics 2008 9:83
  10. Rhinitis and asthma are very common diseases involving genetic and environmental factors. Most patients with asthma also have rhinitis, which suggests the concept of 'one airway, one disease.' A disintegrin an...

    Authors: Dongju Su, Ximei Zhang, Hong Sui, Fuzhen Lü, Lianhong Jin and Jing Zhang
    Citation: BMC Medical Genetics 2008 9:82
  11. Numerous papers have addressed the association of mutations and polymorphisms of susceptibility genes with autoimmune inflammatory disorders. We investigated whether polymorphisms that confer susceptibility to...

    Authors: Pawel Gaj, Andrzej Habior, Michal Mikula and Jerzy Ostrowski
    Citation: BMC Medical Genetics 2008 9:81
  12. Tropical calcific pancreatitis (TCP) is a type of chronic pancreatitis unique to developing countries in tropical regions and one of its important features is invariable progression to diabetes, a condition ca...

    Authors: Swapna Mahurkar, Seema Bhaskar, D Nageshwar Reddy, Swami Prakash, G Venkat Rao, Shivaram Prasad Singh, Varghese Thomas and Giriraj Ratan Chandak
    Citation: BMC Medical Genetics 2008 9:80
  13. Narcolepsy-cataplexy is characterized by excessive daytime sleepiness with recurrent episodes of irresistible sleep, cataplexy, hallucinations and sleep paralysis. Its aetiology is unknown, but it is positivel...

    Authors: Carmen Alaez, Ling Lin, Hilario Flores-A, Miriam Vazquez, Andrea Munguia, Emmanuel Mignot, Reyes Haro, Harry Baker and Clara Gorodezky
    Citation: BMC Medical Genetics 2008 9:79
  14. The association of genetic polymorphisms related to metabolism of homocysteine with inflammatory bowel disease has been evidenced in Crohn disease and remains an open question in ulcerative colitis. We evaluat...

    Authors: Min Chen, Laurent Peyrin-Biroulet, Bing Xia, Rosa-Maria Guéant-Rodriguez, Jean-Pierre Bronowicki, Marc-André Bigard and Jean-Louis Guéant
    Citation: BMC Medical Genetics 2008 9:78
  15. The pathogenesis of atherosclerosis involves both hemostatic and inflammatory mechanisms. Fibrinogen is associated with both risk of thrombosis and inflammation. A recent meta-analysis showed that risk of coro...

    Authors: Lyle G Best, Kari E North, Xia Li, Vittorio Palmieri, Jason G Umans, Jean MacCluer, Sandy Laston, Karin Haack, Harald Goring, Vincent P Diego, Laura Almasy, Elisa T Lee, Russell P Tracy and Shelley Cole
    Citation: BMC Medical Genetics 2008 9:77
  16. A better understanding of the genetic determinants of tobacco smoking might help in developing more effective cessation therapies, tailored to smokers' genotype. Insertion/deletion polymorphism in the promoter...

    Authors: Alicja Sieminska, Krzysztof Buczkowski, Ewa Jassem and Ewa Tkacz
    Citation: BMC Medical Genetics 2008 9:76
  17. Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant and age-dependent vascular disorder characterised mainly by mutations in the Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1)...

    Authors: Ana Fontalba, Africa Fernandez-L, Eva García-Alegria, Virginia Albiñana, Eva M Garrido-Martin, Francisco J Blanco, Roberto Zarrabeitia, Alfonso Perez-Molino, Maria E Bernabeu-Herrero, Maria-Luisa Ojeda, Jose L Fernandez-Luna, Carmelo Bernabeu and Luisa M Botella
    Citation: BMC Medical Genetics 2008 9:75
  18. Previous studies suggested that genetic polymorphisms in the epidermal growth factor receptor (EGFR) gene had been implicated in the susceptibility to some tumors and inflammatory diseases. EGFR has been recen...

    Authors: Lin-Bo Gao, Bin Zhou, Lin Zhang, Ye-Sheng Wei, Yan-Yun Wang, Wei-Bo Liang, Mei-Li Lv, Xin-Min Pan, Yu-Cheng Chen and Li Rao
    Citation: BMC Medical Genetics 2008 9:74
  19. Genetic isolates with a history of a small founder population, long-lasting isolation and population bottlenecks represent exceptional resources in the identification of disease genes. In these populations the...

    Authors: Veronica Latini, Gabriella Sole, Laurent Varesi, Giuseppe Vona and Maria Serafina Ristaldi
    Citation: BMC Medical Genetics 2008 9:73
  20. The rs7903146 and rs12255372 variants of TCF7L2 have been strongly associated with type 2 diabetes (T2D) risk in most populations studied to date. Meta-analysis of 27 different studies has resulted in a global OR...

    Authors: Osama Alsmadi, Khalid Al-Rubeaan, Gamal Mohamed, Fadi Alkayal, Haya Al-Saud, Nouran Abu Al-Saud, Nasser Al-Daghri, Shahinaz Mohammad and Brian F Meyer
    Citation: BMC Medical Genetics 2008 9:72
  21. Mutations in the SPG4 gene (spastin) and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP). Recently, mutations in the REEP1 gene were ...

    Authors: Katharina J Schlang, Larissa Arning, Joerg T Epplen and Susanne Stemmler
    Citation: BMC Medical Genetics 2008 9:71
  22. The genetics of sporadic and non-syndromic familial colorectal cancer (CRC) is not well defined. However, genetic factors that promote the development of precursor lesions, i.e. adenomas, might also predispose...

    Authors: Frank Grünhage, Matthias Jungck, Christoph Lamberti, Hildegard Keppeler, Ursula Becker, Hildegard Schulte-Witte, Dominik Plassmann, Nicolaus Friedrichs, Reinhard Buettner, Stefan Aretz, Tilman Sauerbruch and Frank Lammert
    Citation: BMC Medical Genetics 2008 9:70
  23. Chemicals from occupational exposure and components of cigarette smoke can cause DNA damage in bladder urothelium. Failure to repair DNA damage by DNA repair proteins may result in mutations leading to genetic...

    Authors: Ananya Choudhury, Faye Elliott, Mark M Iles, Michael Churchman, Robert G Bristow, D Timothy Bishop and Anne E Kiltie
    Citation: BMC Medical Genetics 2008 9:69
  24. Preeclampsia is a major cause of maternal and perinatal mortality and morbidity. The etiology of preeclampsia remains unclear. Recently, it was shown that misregulation of fms-like tyrosine kinase-1 (Flt-1) in...

    Authors: Shin-Young Kim, Ji-Hyae Lim, Jae-Hyug Yang, Moon-Young Kim, Jung-Yeol Han, Hyun-Kyong Ahn, Jun-Seek Choi, So-Yeon Park, Mi-Jin Kim and Hyun-Mee Ryu
    Citation: BMC Medical Genetics 2008 9:68
  25. Systemic blood pressure, influenced by both genetic and environmental factors, is regulated via sympathetic nerve activity. We assessed the role of genetic variation in three subunits of the neuromuscular nico...

    Authors: Patrick F McArdle, Sue Rutherford, Braxton D Mitchell, Coleen M Damcott, Ying Wang, Vasan Ramachandran, Sandy Ott, Yen-Pei C Chang, Daniel Levy and Nanette Steinle
    Citation: BMC Medical Genetics 2008 9:67
  26. Many candidate genes have been reported to be risk factors for acute coronary syndrome (ACS), but their impact on clinical prognosis following ACS is unknown.

    Authors: Thomas M Morgan, Lan Xiao, Patrick Lyons, Bethany Kassebaum, Harlan M Krumholz and John A Spertus
    Citation: BMC Medical Genetics 2008 9:66
  27. Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a proce...

    Authors: Elizabeth Ramos-Lopez, Britta Lange, Heinrich Kahles, Holger S Willenberg, Gesine Meyer, Marissa Penna-Martinez, Nicole Reisch, Stefanie Hahner, Jürgen Seissler and Klaus Badenhoop
    Citation: BMC Medical Genetics 2008 9:65
  28. Modern approaches to identifying new genes associated with disease allow very fine analysis of associaton and can be performed in population based case-control studies. However, the sibpair design is still val...

    Authors: Richard A Kerber, Christopher I Amos, Beow Y Yeap, Dianne M Finkelstein and Duncan C Thomas
    Citation: BMC Medical Genetics 2008 9:64
  29. Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. The MHC class II transactivator (MHC2TA) is the master cont...

    Authors: Sreeram V Ramagopalan, David A Dyment, Katie M Morrison, Blanca M Herrera, Gabriele C DeLuca, Matthew R Lincoln, Sarah M Orton, Lahiru Handunnetthi, Michael J Chao, A Dessa Sadovnick and George C Ebers
    Citation: BMC Medical Genetics 2008 9:63
  30. Systemic lupus erythematosus (SLE) is a multifactorial disorder characterized by the presence of autoantibodies. We and others have implicated free radical mediated peroxidative damage in the pathogenesis of S...

    Authors: Anil D'souza, Biji T Kurien, Rosalie Rodgers, Jaideep Shenoi, Sadamu Kurono, Hiroyuki Matsumoto, Kenneth Hensley, Swapan K Nath and R Hal Scofield
    Citation: BMC Medical Genetics 2008 9:62
  31. The xenobiotic enzyme system that enables us to detoxify carcinogens exhibits identifiable genetic polymorphisms that are highly race specific. We hypothesized that polymorphisms of these genes may be associat...

    Authors: Abdul K Siraj, Muna Ibrahim, Maha Al-Rasheed, Jehad Abubaker, Rong Bu, Shakaib U Siddiqui, Fouad Al-Dayel, Osama Al-Sanea, Abdulrahman Al-Nuaim, Shahab Uddin and Khawla Al-Kuraya
    Citation: BMC Medical Genetics 2008 9:61
  32. In utero interactions between incompatible maternal and fetal genotypes are a potential mechanism for the onset or progression of pregnancy related diseases such as pre-eclampsia (PE). However, the optimal ana...

    Authors: Neeta Parimi, Gerard Tromp, Helena Kuivaniemi, Jyh Kae Nien, Ricardo Gomez, Roberto Romero and Katrina AB Goddard
    Citation: BMC Medical Genetics 2008 9:60
  33. Recent genome-wide association (GWA) studies have identified several unsuspected genes associated with type 2 diabetes (T2D) with previously unknown functions. In this investigation, we have examined the role ...

    Authors: Dharambir K Sanghera, Lyda Ortega, Shizhong Han, Jairup Singh, Sarju K Ralhan, Gurpreet S Wander, Narinder K Mehra, John J Mulvihill, Robert E Ferrell, Swapan K Nath and Mohammed I Kamboh
    Citation: BMC Medical Genetics 2008 9:59
  34. BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered. We describe the parental origin and functional characteriz...

    Authors: Thomas V O Hansen, Marie Luise Bisgaard, Lars Jønson, Anders Albrechtsen, Bettina Filtenborg-Barnkob, Hans Eiberg, Bent Ejlertsen and Finn C Nielsen
    Citation: BMC Medical Genetics 2008 9:58
  35. The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been ...

    Authors: Alexandra Rosa, Benedita V Fonseca, Tiago Krug, Helena Manso, Liliana Gouveia, Isabel Albergaria, Gisela Gaspar, Manuel Correia, Miguel Viana-Baptista, Rita Moiron Simões, Amélia Nogueira Pinto, Ricardo Taipa, Carla Ferreira, João Ramalho Fontes, Mário Rui Silva, João Paulo Gabriel…
    Citation: BMC Medical Genetics 2008 9:57
  36. Previous results have suggested an association of the region of 19q13.3 with several forms of cancer. In the present study, we investigated 27 public markers within a previously identified 69 kb stretch of chr...

    Authors: Bjørn A Nexø, Ulla Vogel, Anja Olsen, Mette Nyegaard, Zuzanna Bukowy, Eszter Rockenbauer, Xiuqing Zhang, Cemile Koca, Mette Mains, Bettina Hansen, Anne Hedemand, Anette Kjeldgaard, Magdalena J Laska, Ole Raaschou-Nielsen, Søren Cold, Kim Overvad…
    Citation: BMC Medical Genetics 2008 9:56
  37. A partial deficiency in Protoporphyrinogen oxidase (PPOX) produces the mixed disorder Variegate Porphyria (VP), the second acute porphyria more frequent in Argentina. Identification of patients with an overt V...

    Authors: María V Rossetti, Bárbara X Granata, Jimena Giudice, Victoria E Parera and Alcira Batlle
    Citation: BMC Medical Genetics 2008 9:54
  38. Hemophilia A represents the most common and severe inherited hemorrhagic disorder. It is caused by mutations in the F8 gene, which leads to a deficiency or dysfunctional factor VIII protein, an essential cofac...

    Authors: Shin-Yu Lin, Yi-Ning Su, Chia-Cheng Hung, Woei Tsay, Shyh-Shin Chiou, Chieh-Ting Chang, Hong-Nerng Ho and Chien-Nan Lee
    Citation: BMC Medical Genetics 2008 9:53
  39. Mutations in the mismatch repair genes hMLH1 and hMSH2 predispose to hereditary non-polyposis colorectal cancer (HNPCC). Genetic screening of more than 350 Danish patients with colorectal cancer (CRC) has led to ...

    Authors: Lise Lotte Christensen, Bo E Madsen, Friedrik P Wikman, Carsten Wiuf, Karen Koed, Anne Tjønneland, Anja Olsen, Ann-Christine Syvänen, Claus L Andersen and Torben F Ørntoft
    Citation: BMC Medical Genetics 2008 9:52
  40. To examine if the significantly associated SNPs derived from the genome wide allelic association study on the AREDS cohort at the NEI (dbGAP) specifically confer risk for neovascular age-related macular degene...

    Authors: Hong Zhang, Margaux A Morrison, Andy DeWan, Scott Adams, Michael Andreoli, Nancy Huynh, Maureen Regan, Alison Brown, Joan W Miller, Ivana K Kim, Josephine Hoh and Margaret M DeAngelis
    Citation: BMC Medical Genetics 2008 9:51
  41. Genetic factors make an important contribution to the aetiology of congenital talipes equinovarus (CTEV), the most common developmental disorder of the lower limb. WNT7A was suggested as a candidate gene for C...

    Authors: Guoqing Liu, Julie Inglis, Amanda Cardy, Duncan Shaw, Sukhy Sahota, Raoul Hennekam, Linda Sharp and Zosia Miedzybrodzka
    Citation: BMC Medical Genetics 2008 9:50
  42. The Framingham Heart Study (FHS) recently obtained initial results from the first genome-wide association scan for renal traits. The study of 70,987 single nucleotide polymorphisms (SNPs) in 1,010 FHS particip...

    Authors: Anna Kottgen, Wen Hong L Kao, Shih-Jen Hwang, Eric Boerwinkle, Qiong Yang, Daniel Levy, Emelia J Benjamin, Martin G Larson, Brad C Astor, Josef Coresh and Caroline S Fox
    Citation: BMC Medical Genetics 2008 9:49
  43. Low frequency sensorineural hearing loss (LFSNHL) is an uncommon clinical finding. Mutations within three different identified genes (DIAPH1, MYO7A, and WFS1) are known to cause LFSNHL. The majority of hereditary...

    Authors: Naomi F Bramhall, Jeremy C Kallman, Aimee M Verrall and Valerie A Street
    Citation: BMC Medical Genetics 2008 9:48
  44. The ICAM-1 gene is a strong positional and biological candidate for susceptibility to the development of T1D and DN. We have recently demonstrated that SNP rs5498(E469K) confers susceptibility to the developme...

    Authors: Jun Ma, Dongying Zhang, Kerstin Brismar, Suad Efendic and Harvest F Gu
    Citation: BMC Medical Genetics 2008 9:47
  45. The chromosome 7q32 region is linked to metabolic syndrome and obesity related traits in the Family Heart Study. As part of a fine mapping study of the region, we evaluated the relationship of polymorphisms to...

    Authors: Jason M Laramie, Jemma B Wilk, Sally L Williamson, Michael W Nagle, Jeanne C Latourelle, Jennifer E Tobin, Michael A Province, Ingrid B Borecki and Richard H Myers
    Citation: BMC Medical Genetics 2008 9:46
  46. Considering that a portion of the heterogeneity amongst previous replication studies may be due to a variable proportion of obese subjects in case-control designs, we assessed the association of genetic varian...

    Authors: Stéphane Cauchi, Kevin T Nead, Hélène Choquet, Fritz Horber, Natascha Potoczna, Beverley Balkau, Michel Marre, Guillaume Charpentier, Philippe Froguel and David Meyre
    Citation: BMC Medical Genetics 2008 9:45
  47. Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk...

    Authors: Jong-Ha Yoo, Jee-Hyoung Yoo, Yoon-Jung Choi, Jung-Gu Kang, Young-Kyu Sun, Chang-Seok Ki, Kyung-A Lee and Jong-Rak Choi
    Citation: BMC Medical Genetics 2008 9:44
  48. This study was designed to investigate the association of the 894G>T polymorphism in the eNOS gene with risk of acute myocardial infarction (AMI), extent of coronary artery disease (CAD) on coronary angiograph...

    Authors: George K Andrikopoulos, Dimitris K Grammatopoulos, Stylianos E Tzeis, Sevasti I Zervou, Dimitris J Richter, Michalis N Zairis, Elias J Gialafos, Dimitris C Sakellariou, Stefanos G Foussas, Antonis S Manolis, Christodoulos I Stefanadis, Pavlos K Toutouzas and Edward W Hillhouse
    Citation: BMC Medical Genetics 2008 9:43
  49. Congenital nephrogenic diabetes insipidus (NDI) is characterised by an inability to concentrate urine despite normal or elevated plasma levels of the antidiuretic hormone arginine vasopressin. We report a Japa...

    Authors: Masaya Fujimoto, Kohsuke Imai, Kenji Hirata, Reiichi Kashiwagi, Yoichi Morinishi, Katsuhiko Kitazawa, Sei Sasaki, Tadao Arinami, Shigeaki Nonoyama and Emiko Noguchi
    Citation: BMC Medical Genetics 2008 9:42