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  1. Subtelomeric imbalance is widely accepted as related to developmental delay/mental retardation (DD/MR). Fine mapping of aberrations in gene-enriched subtelomeric regions provides essential clues for localizing...

    Authors: Ye Wu, Taoyun Ji, Jingmin Wang, Jing Xiao, Huifang Wang, Jie Li, Zhijie Gao, Yanling Yang, Bin Cai, Liwen Wang, Zhongshu Zhou, Lili Tian, Xiaozhu Wang, Nan Zhong, Jiong Qin, Xiru Wu…
    Citation: BMC Medical Genetics 2010 11:72
  2. Hirschsprung disease is characterized by the absence of intramural ganglion cells in the enteric plexuses, due to a fail during enteric nervous system formation. Hirschsprung has a complex genetic aetiology an...

    Authors: Avencia Sánchez-Mejías, Rocio Núñez-Torres, Raquel M Fernández, Guillermo Antiñolo and Salud Borrego
    Citation: BMC Medical Genetics 2010 11:71
  3. The TNF/LTA locus has been a long-standing T2D candidate gene. Several studies have examined association of TNF/LTA SNPs with T2D but the majority have been small-scale and produced no convincing evidence of asso...

    Authors: Vesna Boraska, Nigel W Rayner, Christopher J Groves, Timothy M Frayling, Mahamadou Diakite, Kirk A Rockett, Dominic P Kwiatkowski, Aaron G Day-Williams, Mark I McCarthy and Eleftheria Zeggini
    Citation: BMC Medical Genetics 2010 11:69
  4. Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have been the subject of many medical genetics studies. We constructed four versions of Anabaptist Genealogy Database...

    Authors: Woei-Jyh Lee, Toni I Pollin, Jeffrey R O'Connell, Richa Agarwala and Alejandro A Schäffer
    Citation: BMC Medical Genetics 2010 11:68
  5. MyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease expression. Ou...

    Authors: María Isabel Rodríguez-García, Lorenzo Monserrat, Martín Ortiz, Xusto Fernández, Laura Cazón, Lucía Núñez, Roberto Barriales-Villa, Emilia Maneiro, Elena Veira, Alfonso Castro-Beiras and Manuel Hermida-Prieto
    Citation: BMC Medical Genetics 2010 11:67
  6. Hypertriglyceridemia (HTG) is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG) metabolism has been des...

    Authors: María-José Ariza, Miguel-Ángel Sánchez-Chaparro, Francisco-Javier Barón, Ana-María Hornos, Eva Calvo-Bonacho, José Rioja, Pedro Valdivielso, José-Antonio Gelpi and Pedro González-Santos
    Citation: BMC Medical Genetics 2010 11:66
  7. Abnormalities in myocardial metabolism and/or regulatory genes have been implicated in left ventricular systolic dysfunction. However, the extent to which these modulate left ventricular diastolic function (LV...

    Authors: Jyh-Ming Jimmy Juang, Lisa de las Fuentes, Alan D Waggoner, C Charles Gu and Víctor G Dávila-Román
    Citation: BMC Medical Genetics 2010 11:65
  8. Multiple sclerosis (MS) is a complex disorder thought to result from an interaction between environmental and genetic predisposing factors which have not yet been characterised, although it is known to be asso...

    Authors: Alessandra Ferlini, Matteo Bovolenta, Marcella Neri, Francesca Gualandi, Alessandra Balboni, Anton Yuryev, Fabrizio Salvi, Donato Gemmati, Alberto Liboni and Paolo Zamboni
    Citation: BMC Medical Genetics 2010 11:64
  9. Tumor necrosis factor alpha (TNF-α) is thought to be involved in the various immunogenetic events that influence HIV-1 infection.

    Authors: Sergi Veloso, Montserrat Olona, Felipe García, Pere Domingo, Carlos Alonso-Villaverde, Montserrat Broch, Joaquim Peraire, Consuelo Viladés, Montserrat Plana, Enric Pedrol, Miguel López-Dupla, Carmen Aguilar, Mar Gutiérrez, Agathe Leon, Mariona Tasias, Josep Ma Gatell…
    Citation: BMC Medical Genetics 2010 11:63
  10. The identification of genetic variants related to blood lipid levels within a large, population-based and nationally representative study might lead to a better understanding of the genetic contribution to ser...

    Authors: Man-huei Chang, Ajay Yesupriya, Renée M Ned, Patricia W Mueller and Nicole F Dowling
    Citation: BMC Medical Genetics 2010 11:62
  11. GTF2I codes for a general intrinsic transcription factor and calcium channel regulator TFII-I, with high and ubiquitous expression, and a strong candidate for involvement in the morphological and neuro-developme...

    Authors: Jaume Lucena, Susana Pezzi, Ester Aso, Maria C Valero, Candelas Carreiro, Pierre Dubus, Adriana Sampaio, Maria Segura, Isabel Barthelemy, Marc Y Zindel, Nuno Sousa, José L Barbero, Rafael Maldonado, Luis A Pérez-Jurado and Victoria Campuzano
    Citation: BMC Medical Genetics 2010 11:61
  12. A genomic region on chromosome 9p21 has been identified as closely associated with increased susceptibility to coronary artery disease (CAD) and to type 2 diabetes (T2D) although the evidence suggests that the...

    Authors: Francesca Gori, Claudia Specchia, Silvia Pietri, Luisa Crociati, Simona Barlera, Monica Franciosi, Antonio Nicolucci, Stefano Signorini, Paolo Brambilla and Maria Grazia Franzosi
    Citation: BMC Medical Genetics 2010 11:60
  13. Genome-wide association studies (GWAS) in White Europeans have shown that genetic variation rs10830963 in melatonin receptor 1B gene (MTNR1B) is associated with fasting glucose and type 2 diabetes, which has also...

    Authors: Chen Liu, Ying Wu, Huaixing Li, Qibin Qi, Claudia Langenberg, Ruth JF Loos and Xu Lin
    Citation: BMC Medical Genetics 2010 11:59
  14. TMEM18 is a hypothalamic gene that has recently been linked to obesity and BMI in genome wide association studies. However, the functional properties of TMEM18 are obscure.

    Authors: Markus Sällman Almén, Josefin A Jacobsson, Jafar HA Shaik, Pawel K Olszewski, Jonathan Cedernaes, Johan Alsiö, Smitha Sreedharan, Allen S Levine, Robert Fredriksson, Claude Marcus and Helgi B Schiöth
    Citation: BMC Medical Genetics 2010 11:58
  15. Genome-wide association studies found common variants in the fat mass and obesity-associated (FTO) gene associated with adiposity in Caucasians and Asians but the association was not confirmed in African populati...

    Authors: Gaifen Liu, Haidong Zhu, Vasiliki Lagou, Bernard Gutin, Inger S Stallmann-Jorgensen, Frank A Treiber, Yanbin Dong and Harold Snieder
    Citation: BMC Medical Genetics 2010 11:57
  16. MYG1 (Melanocyte proliferating gene 1, also C12orf10 in human) is a ubiquitous nucleo-mitochondrial protein, involved in early developmental processes and in adult stress/illness conditions. We recently showed t...

    Authors: Mari-Anne Philips, Külli Kingo, Maire Karelson, Ranno Rätsep, Eerik Aunin, Ene Reimann, Paula Reemann, Orm Porosaar, Jonas Vikeså, Finn C Nielsen, Eero Vasar, Helgi Silm and Sulev Kõks
    Citation: BMC Medical Genetics 2010 11:56
  17. Cholesterol concentrations in blood are related to cardiovascular diseases. Recent genome-wide association studies (GWAS) of cholesterol levels identified a number of single-locus effects on total cholesterol ...

    Authors: Li Ma, Jing Yang, H Birali Runesha, Toshiko Tanaka, Luigi Ferrucci, Stefania Bandinelli and Yang Da
    Citation: BMC Medical Genetics 2010 11:55
  18. The availability of clinically valid biomarkers contribute to improve the diagnosis and clinical management of diseases. A valine-to-phenylalanine substitution at position 617 (V617F) in the Janus kinase 2 (JA...

    Authors: François W Paradis, Raynald Simard and Daniel Gaudet
    Citation: BMC Medical Genetics 2010 11:54
  19. Mitochondrial function is impaired in Parkinson's disease (PD) and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitul...

    Authors: David K Simon, Nathan Pankratz, Diane K Kissell, Michael W Pauciulo, Cheryl A Halter, Alice Rudolph, Ronald F Pfeiffer, William C Nichols and Tatiana Foroud
    Citation: BMC Medical Genetics 2010 11:53
  20. To determine association of nine single nucleotide polymorphisms (SNPs) in ADP ribosyltransferase-1 (ADPRT1), aldo-keto reductase family 1 member B1 (AKR1B1), receptor for advanced glycation end-products (RAGE...

    Authors: Pushplata Prasad, Arun K Tiwari, KM Prasanna Kumar, AC Ammini, Arvind Gupta, Rajeev Gupta and BK Thelma
    Citation: BMC Medical Genetics 2010 11:52
  21. Patients with Hb E/β0 thalassemia display remarkable variability in disease severity. To identify genetic modifiers influencing disease severity, we conducted a two-stage genome scan in groups of 207 mild and 305...

    Authors: Richard Sherva, Orapan Sripichai, Kenneth Abel, Qianli Ma, Johanna Whitacre, Vach Angkachatchai, Wattanan Makarasara, Pranee Winichagoon, Saovaros Svasti, Suthat Fucharoen, Andreas Braun and Lindsay A Farrer
    Citation: BMC Medical Genetics 2010 11:51
  22. In search for genes predisposing to osteoarthritis (OA), several genome wide scans have provided evidence for linkage on 2q. In this study we targeted a 470 kb region on 2q11.2 presenting the locus with most e...

    Authors: Annu Näkki, Sanna T Kouhia, Janna Saarela, Arsi Harilainen, Kaj Tallroth, Tapio Videman, Michele C Battié, Jaakko Kaprio, Leena Peltonen and Urho M Kujala
    Citation: BMC Medical Genetics 2010 11:50
  23. Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscle dystrophy that resembles Duchenne muscular dystrophy (DMD). Although DMD is known to affect one in every 3500 males regardless o...

    Authors: Yo Okizuka, Yasuhiro Takeshima, Kyoko Itoh, Zhujun Zhang, Hiroyuki Awano, Koichi Maruyama, Toshiyuki Kumagai, Mariko Yagi and Masafumi Matsuo
    Citation: BMC Medical Genetics 2010 11:49
  24. Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably the most common...

    Authors: Geir J Braathen, Jette C Sand, Ana Lobato, Helle Høyer and Michael B Russell
    Citation: BMC Medical Genetics 2010 11:48
  25. Machado-Joseph disease (MJD), caused by a CAG repeat expansion located in exon10 of the ATXN3 gene, is now regarded as one of the most common spinocerebellar ataxia (SCA) in the world. The relative frequency of M...

    Authors: Shi-Rui Gan, Sheng-Sheng Shi, Jian-Jun Wu, Ning Wang, Gui-Xian Zhao, Sheng-Tong Weng, Shen-Xing Murong, Chuan-Zhen Lu and Zhi-Ying Wu
    Citation: BMC Medical Genetics 2010 11:47
  26. Hepatocellular carcinoma (HCC) is one of the most frequent malignant neoplasms in the world. Genetic polymorphism has been reported to be a factor increasing the risk of HCC. Phase II enzymes such as glutathio...

    Authors: Yao-Li Chen, Hsin-Shun Tseng, Wu-Hsien Kuo, Shun-Fa Yang, Dar-Ren Chen and Hsiu-Ting Tsai
    Citation: BMC Medical Genetics 2010 11:46
  27. An association between a common deletion comprising the late cornified envelope LCE3B and LCE3C genes (LCE3C_LCE3B-del) and Psoriasis (Ps) has been reported. The expression of these LCE genes was induced after...

    Authors: Eliecer Coto, Jorge Santos-Juanes, Pablo Coto-Segura, Marta Díaz, Javier Soto, Rubén Queiro and Victoria Alvarez
    Citation: BMC Medical Genetics 2010 11:45
  28. Molecular characterization of collagen-VI related myopathies currently relies on standard sequencing, which yields a detection rate approximating 75-79% in Ullrich congenital muscular dystrophy (UCMD) and 60-6...

    Authors: Matteo Bovolenta, Marcella Neri, Elena Martoni, Anna Urciuolo, Patrizia Sabatelli, Marina Fabris, Paolo Grumati, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Paolo Bonaldo, Alessandra Ferlini and Francesca Gualandi
    Citation: BMC Medical Genetics 2010 11:44
  29. Evidence for a high degree of heritability of EEG alpha phenotypes has been demonstrated in twin and family studies in a number of populations. However, information on linkage of this phenotype to specific chr...

    Authors: Cindy L Ehlers, Ian R Gizer, Evelyn Phillips and Kirk C Wilhelmsen
    Citation: BMC Medical Genetics 2010 11:43
  30. Insulin gene (INS) mutations have recently been described as a common cause of permanent neonatal diabetes (PNDM) and a rare cause of diabetes diagnosed in childhood or adulthood.

    Authors: Trine W Boesgaard, Stepanka Pruhova, Ehm A Andersson, Ondrej Cinek, Barbora Obermannova, Jeannet Lauenborg, Peter Damm, Regine Bergholdt, Flemming Pociot, Charlotta Pisinger, Fabrizio Barbetti, Jan Lebl, Oluf Pedersen and Torben Hansen
    Citation: BMC Medical Genetics 2010 11:42
  31. Serum creatinine (SCR) is the most important biomarker for a quick and non-invasive assessment of kidney function in population-based surveys. A substantial proportion of the inter-individual variability in SCR l...

    Authors: Cristian Pattaro, Alessandro De Grandi, Veronique Vitart, Caroline Hayward, Andre Franke, Yurii S Aulchenko, Asa Johansson, Sarah H Wild, Scott A Melville, Aaron Isaacs, Ozren Polasek, David Ellinghaus, Ivana Kolcic, Ute Nöthlings, Lina Zgaga, Tatijana Zemunik…
    Citation: BMC Medical Genetics 2010 11:41
  32. Multiple lines of evidence suggest that genetic factors contribute to stroke recovery. The matrix metalloproteinases -2 (MMP-2) and -9 (MMP-9) are modulators of extracellular matrix components, with important ...

    Authors: Helena Manso, Tiago Krug, João Sobral, Isabel Albergaria, Gisela Gaspar, José M Ferro, Sofia A Oliveira and Astrid M Vicente
    Citation: BMC Medical Genetics 2010 11:40
  33. Glucocorticoids have an important role in early growth and development. Glucocorticoid receptor gene polymorphisms have been identified that contribute to the variability in glucocorticoid sensitivity. We exam...

    Authors: Miranda JJ Geelhoed, Eric AP Steegers, Jan W Koper, Elisabeth FC van Rossum, Henriette A Moll, Hein Raat, Henning Tiemeier, Albert Hofman and Vincent WV Jaddoe
    Citation: BMC Medical Genetics 2010 11:39
  34. Poly(ADP-ribose) polymerase-1 (PARP-1) is a nuclear enzyme that plays a role in DNA repair, differentiation, proliferation, and cell death. The polymorphisms of PARP-1 have been associated with the risk of variou...

    Authors: Xue Mei Jin, Hee Nam Kim, Il-Kwon Lee, Kyeong-Soo Park, Hyeoung-Joon Kim, Jin-Su Choi, Sang Woo Juhng and Chan Choi
    Citation: BMC Medical Genetics 2010 11:38
  35. Human genetic variants may affect tuberculosis susceptibility, but the immunologic correlates of the genetic variants identified are often unclear.

    Authors: Alison A Motsinger-Reif, Paulo RZ Antas, Noffisat O Oki, Shawn Levy, Steven M Holland and Timothy R Sterling
    Citation: BMC Medical Genetics 2010 11:37
  36. Oxidative stress is heavily implicated in the pathogenic process of Parkinson's disease. Varying capacity to detoxify radical oxygen species through induction of phase II antioxidant enzymes in substantia nigr...

    Authors: Malin von Otter, Sara Landgren, Staffan Nilsson, Dragana Celojevic, Petra Bergström, Anna Håkansson, Hans Nissbrandt, Marek Drozdzik, Monika Bialecka, Mateusz Kurzawski, Kaj Blennow, Michael Nilsson, Ola Hammarsten and Henrik Zetterberg
    Citation: BMC Medical Genetics 2010 11:36
  37. Type 2 diabetes is a complex metabolic disorder with obesity being a major contributing factor in its development. Susceptibility loci for type 2 diabetes and obesity have been localized on different chromosom...

    Authors: Rubina Tabassum, Anubha Mahajan, Ganesh Chauhan, Om Prakash Dwivedi, Saurabh Ghosh, Nikhil Tandon and Dwaipayan Bharadwaj
    Citation: BMC Medical Genetics 2010 11:35
  38. Mutations of EGFR and K-ras are biomarkers for predicting the efficacy of targeting agents in non-small-cell lung cancer (NSCLC) and colorectal cancer (CRC). Data on the gene mutation status of EGFR and K-ras ...

    Authors: Zuo Yunxia, Cao Jun, Zhu Guanshan, Lu Yachao, Zhou Xueke and Li Jin
    Citation: BMC Medical Genetics 2010 11:34
  39. Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. In a...

    Authors: Bassam R Ali, Nadia A Akawi, Faris Chedid, Mahmood Bakir, Moghis Ur Rehman, Aiman Rahmani and Lihadh Al-Gazali
    Citation: BMC Medical Genetics 2010 11:33
  40. Interleukin (IL)-1β is a potent proinflammatory cytokine markedly overexpressed in the brains of patients with Alzheimer's disease (AD), and also involved in development of atherosclerosis and coronary artery ...

    Authors: José Luis Vázquez-Higuera, Eloy Rodríguez-Rodríguez, Pascual Sánchez-Juan, Ignacio Mateo, Ana Pozueta, Ana Martínez-García, Ana Frank, Fernando Valdivieso, José Berciano, María J Bullido and Onofre Combarros
    Citation: BMC Medical Genetics 2010 11:32
  41. The clinical syndrome of thalassemia intermedia (TI) results from the β-globin genotypes in combination with factors to produce fetal haemoglobin (HbF) and/or co-inheritance of α-thalassemia. However, very lit...

    Authors: Wanqun Chen, Xinhua Zhang, Xuan Shang, Ren Cai, Liyan Li, Tianhong Zhou, Manna Sun, Fu Xiong and Xiangmin Xu
    Citation: BMC Medical Genetics 2010 11:31
  42. Mental deficiency has been linked to abnormalities in cortical neuronal network connectivity and plasticity. These mechanisms are in part under the control of two interacting signalling pathways, the serotoner...

    Authors: Refaat Tabagh, Christian R Andres, Sylviane Védrine, Catherine Cherpi-Antar, Rose-Anne Thepault, Laurence Mignon, Diane Dufour-Rainfray, Claude Moraine and Patrick Vourc'h
    Citation: BMC Medical Genetics 2010 11:30
  43. The interleukin-1 (IL-1) family of cytokines is involved in the inflammatory and repair reactions of skeletal muscle during and after exercise. Specifically, plasma levels of the IL-1 receptor antagonist (IL-1...

    Authors: Sabina Cauci, Manuela Di Santolo, Kelli K Ryckman, Scott M Williams and Giuseppe Banfi
    Citation: BMC Medical Genetics 2010 11:29
  44. Although plasma fibrinogen levels are related to cardiovascular risk, data regarding the role of fibrinogen genetic variation in myocardial infarction (MI) or coronary artery disease (CAD) etiology remain inco...

    Authors: Eirini V Theodoraki, Tiit Nikopensius, Julia Suhorutšenko, Vassileios Peppes, Panagiota Fili, Genovefa Kolovou, Vassileios Papamikos, Dimitrios Richter, Nikolaos Zakopoulos, Kaarel Krjutškov, Andres Metspalu and George V Dedoussis
    Citation: BMC Medical Genetics 2010 11:28
  45. The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care of...

    Authors: Anniken Hamang, Geir Egil Eide, Karin Nordin, Berit Rokne, Cathrine Bjorvatn and Nina Øyen
    Citation: BMC Medical Genetics 2010 11:27
  46. Complete and partial trisomy 9 is the fourth most common chromosomal disorder. It is also associated with various congenital characteristics affecting the cranio-facial, skeletal, central nervous, gastrointest...

    Authors: Keith Tiong, Andrew Cotterill and Henrik Falhammar
    Citation: BMC Medical Genetics 2010 11:26
  47. Several studies have shown overexpression of leptin in microarray experiments in pre-eclampsia (PE) and in hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome. We decided to study four leptin rec...

    Authors: Tibor Várkonyi, Levente Lázár, Attila Molvarec, Nándor Gábor Than, János Rigó Jr and Bálint Nagy
    Citation: BMC Medical Genetics 2010 11:25
  48. Dopamine is an important neurotransmitter involved in reward mechanism in the brain and thereby influences development and relapse of alcohol dependence. The dopamine D2 receptor (DRD2) gene on chromosome 11 (q22...

    Authors: Pushplata Prasad, Atul Ambekar and Meera Vaswani
    Citation: BMC Medical Genetics 2010 11:24
  49. Several studies have shown that the clinical phenotypes of dentinogenesis imperfecta type II (DGI-II) may be caused by mutations in dentin sialophosphoprotein (DSPP). However, no previous studies have documented ...

    Authors: Haihua Bai, Hasi Agula, Qizhu Wu, Wenyu Zhou, Yujing Sun, Yue Qi, Suya Latu, Yujie Chen, Jiri Mutu and Changchun Qiu
    Citation: BMC Medical Genetics 2010 11:23