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593 result(s) for 'impact factor' within BMC Medical Genetics

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  1. Brain magnetic resonance imaging (MRI) and cognitive tests can identify heritable endophenotypes associated with an increased risk of developing stroke, dementia and Alzheimer's disease (AD). We conducted a ge...

    Authors: Sudha Seshadri, Anita L DeStefano, Rhoda Au, Joseph M Massaro, Alexa S Beiser, Margaret Kelly-Hayes, Carlos S Kase, Ralph B D'Agostino Sr, Charles DeCarli, Larry D Atwood and Philip A Wolf
    Citation: BMC Medical Genetics 2007 8(Suppl 1):S15
    Content type: Research Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  2. The ABCG2 rs2231142 single nucleotide polymorphism (SNP) is one of the most significant genetic variants associated with hyperuricemia (HUA) in Asian populations. However, the risk of ABCG2 rs2231142 variants for...

    Authors: Jia Liu, Wei Yang, Yun Li, Zhanyun Wei and Xiaojuan Dan
    Citation: BMC Medical Genetics 2020 21:54
    Content type: Research article Published on:

  3. The CACNA1C gene was defined as a risk gene for schizophrenia in a large genome-wide association study of European ancestry performed by the Psychiatric Genomics Consortium. Previous meta-analyses focused on the ...

    Authors: Yong-ping Liu, Xue Wu, Xi Xia, Jun Yao and Bao-jie Wang
    Citation: BMC Medical Genetics 2020 21:159
    Content type: Research article Published on:

  4. Mutations in the SQSTM1/p62 gene have been reported in Paget’s disease of bone (PDB), but they are not sufficient to induce the pagetic osteoclast (OC) phenotype. We hypothesized that specific RNA isoforms of OC-...

    Authors: Roscoe Klinck, Gino Laberge, Martine Bisson, Stephen McManus, Laëtitia Michou, Jacques P Brown and Sophie Roux
    Citation: BMC Medical Genetics 2014 15:98
    Content type: Research article Published on:

  5. Screening mammography has had a positive impact on breast cancer mortality but cannot detect all breast tumors. In a small study, we confirmed that low power magnetic resonance imaging (MRI) could identify mam...

    Authors: Jean J Latimer, Wendy S Rubinstein, Jennifer M Johnson, Amal Kanbour-Shakir, Victor G Vogel and Stephen G Grant
    Citation: BMC Medical Genetics 2005 6:26
    Content type: Case report Published on:

  6. 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:

  7. Severe malarial anemia (SMA) is a leading cause of malaria-related morbidity and mortality in children. The genetic factors that influence development of SMA and inefficient erythropoiesis, a central pathogeni...

    Authors: Lily E. Kisia, Prakasha Kempaiah, Samuel B. Anyona, Elly O. Munde, Angela O. Achieng, John M. Ong’echa, Christophe G. Lambert, Kiprotich Chelimo, Collins Ouma, Douglas J. Perkins and Evans Raballah
    Citation: BMC Medical Genetics 2019 20:140
    Content type: Research article Published on:

  8. The transcription factor Nrf2, encoded by the NFE2L2 gene, is an important regulator of the cellular protection against oxidative stress. Parkinson’s disease is a neurodegenerative disease highly associated with ...

    Authors: Malin von Otter, Petra Bergström, Aldo Quattrone, Elvira Valeria De Marco, Grazia Annesi, Peter Söderkvist, Stephanie Bezzina Wettinger, Marek Drozdzik, Monika Bialecka, Hans Nissbrandt, Christine Klein, Michael Nilsson, Ola Hammarsten, Staffan Nilsson and Henrik Zetterberg
    Citation: BMC Medical Genetics 2014 15:131
    Content type: Research article Published on:

  9. 5,10-methylenetetrahydrofolate reductase (MTHFR) variants, C677T and A1298C, have been reported to be associated with decreased risk of acute lymphoblastic leukemia (ALL). However, results derived from individual...

    Authors: Haigang Wang, Jiali Wang, Lixia Zhao, Xinchun Liu and Wenjie Mi
    Citation: BMC Medical Genetics 2012 13:77
    Content type: Research article Published on:

  10. 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
    Content type: Research article Published on:

  11. Mutations in the ZNF750 promoter and coding regions have been previously associated with Mendelian forms of psoriasis and psoriasiform dermatitis. ZNF750 encodes a putative zinc finger transcription factor that i...

    Authors: Ramon Y Birnbaum, Genki Hayashi, Idan Cohen, Annie Poon, Haoyan Chen, Ernest T Lam, Pui-Yan Kwok, Ohad S Birk and Wilson Liao
    Citation: BMC Medical Genetics 2011 12:167
    Content type: Research article Published on:

  12. Although mitochondrial dysfunction is consistently manifested in patients with Type 2 Diabetes mellitus (T2DM), the association of mitochondrial DNA (mtDNA) sequence variants with T2DM varies among populations...

    Authors: Jeanette Feder, Ofer Ovadia, Ilana Blech, Josef Cohen, Julio Wainstein, Ilana Harman-Boehm, Benjamin Glaser and Dan Mishmar
    Citation: BMC Medical Genetics 2009 10:60
    Content type: Research article Published on:

  13. 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
    Content type: Research article Published on:

  14. Adiponectin is inversely associated with obesity, insulin resistance, and atherosclerosis, but little is known about the genetic pathways that regulate the plasma level of this protein. To find novel genes tha...

    Authors: Laura J Rasmussen-Torvik, James S Pankow, James M Peacock, Ingrid B Borecki, James E Hixson, Michael Y Tsai, Edmond K Kabagambe and Donna K Arnett
    Citation: BMC Medical Genetics 2009 10:39
    Content type: Research article Published on:

  15. Genetic polymorphisms of the TCF7L2 gene are strongly associated with large increments in type 2 diabetes risk in different populations worldwide. In this study, we aimed to confirm the effect of the TCF7L2 polym...

    Authors: GF Marquezine, AC Pereira, AGP Sousa, JG Mill, WA Hueb and JE Krieger
    Citation: BMC Medical Genetics 2008 9:106
    Content type: Research article Published on:

  16. CYP2C9 and VKORC1 are two major genetic factors associated with inter-individual variability in warfarin dose. Additionally, genes in the warfarin metabolism pathway have also been associated with dose variance....

    Authors: Ivet M Suriapranata, Wen Ye Tjong, Tingliang Wang, Andi Utama, Sunu B Raharjo, Yoga Yuniadi and Susan SW Tai
    Citation: BMC Medical Genetics 2011 12:80
    Content type: Research article Published on:

  17. The Pro12Ala Single Nucleotide Polymorphism (SNP) of the Peroxisome Proliferator-Activated Receptor gamma 2 (PPAR-gamma 2) has been associated with insulin resistance and type 2 diabetes (T2D) and also inconsiste...

    Authors: Maya Ghoussaini, David Meyre, Stéphane Lobbens, Guillaume Charpentier, Karine Clément, Marie-Aline Charles, Maïté Tauber, Jacques Weill and Philippe Froguel
    Citation: BMC Medical Genetics 2005 6:11
    Content type: Research article Published on:

  18. We previously demonstrated that single nucleotide polymorphism (SNP) and haplotypes were associated with aspirin hypersensitivity in asthmatics. We investigated the genetic effects of the SNPs and haplotypes o...

    Authors: Jeong-Ah Shin, Hun Soo Chang, Se-Min Park, An-Soo Jang, Sung Woo Park, Jong Sook Park, Soo-Taek Uh, Gune Il Lim, Taiyoun Rhim, Mi-Kyeong Kim, Inseon S Choi, Il Yup Chung, Byung Lae Park, Hyoung Doo Shin and Choon-Sik Park
    Citation: BMC Medical Genetics 2009 10:106
    Content type: Research article Published on:

  19. It is widely accepted that Type 2 Diabetes Mellitus (T2DM) and other complex diseases are the product of complex interplay between genetic susceptibility and environmental causes. To cope with such a complexity, ...

    Authors: Michele Pinelli, Manuela Giacchetti, Fabio Acquaviva, Sergio Cocozza, Giovanna Donnarumma, Emanuela Lapice, Gabriele Riccardi, Geremia Romano, Olga Vaccaro and Antonella Monticelli
    Citation: BMC Medical Genetics 2006 7:85
    Content type: Research article Published on:

  20. Recent studies have implicated variants of the transcription factor 7-like 2 (TCF7L2) gene in genetic susceptibility to type 2 diabetes mellitus in several different populations. The aim of this study was to dete...

    Authors: Simon D Rees, Srikanth Bellary, Abigail C Britten, J Paul O'Hare, Sudhesh Kumar, Anthony H Barnett and M Ann Kelly
    Citation: BMC Medical Genetics 2008 9:8
    Content type: Research article Published on:

  21. Transcription factor 7-like 2 (TCF7L2) has been shown to be associated with type 2 diabetes mellitus (T2MD) in multiple ethnic groups in the past two years, but, contradictory results were reported for Chinese an...

    Authors: Yu Tong, Ying Lin, Yuan Zhang, Jiyun Yang, Yawei Zhang, Hengchuan Liu and Ben Zhang
    Citation: BMC Medical Genetics 2009 10:15
    Content type: Research article Published on:

  22. ARNT, a member of the basic helix-loop-helix family of transcription factors, is located on human chromosome 1q21–q24, a region which showed well replicated linkage to type 2 diabetes. We hypothesized that com...

    Authors: Swapan K Das, Neeraj K Sharma, Winston S Chu, Hua Wang and Steven C Elbein
    Citation: BMC Medical Genetics 2008 9:16
    Content type: Research article Published on:

  23. Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke.

    Authors: Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang and Hongbao Cao
    Citation: BMC Medical Genetics 2020 21(Suppl 1):174
    Content type: Research Published on:

    This article is part of a Supplement: Volume 21 Supplement 1

  24. Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far.

    Authors: Xianping Meng, Hongyan Lu, Xia Jiang, Bin Huang, Song Wu, Guiping Yu and Hongbao Cao
    Citation: BMC Medical Genetics 2020 21(Suppl 1):176
    Content type: Research Published on:

    This article is part of a Supplement: Volume 21 Supplement 1

  25. Single-nucleotide polymorphism (SNP) haplotype and SNP-SNP interactions of CTLA-4 and CD40 genes, with susceptibility to Graves’ disease (GD), were explored in a Chinese Han population.

    Authors: Xiaoming Chen, Zhuoqing Hu, Meilian Liu, Huaqian Li, Chanbo Liang, Wei Li, Liwen Bao, Manyang Chen and Ge Wu
    Citation: BMC Medical Genetics 2018 19:171
    Content type: Research article Published on:

  26. Adiponectin Q is a hormone that modulates several metabolic processes and contributes to the suppression of biochemical pathways leading to metabolic syndrome. Hence, polymorphic changes in the adiponectin Q (ADI...

    Authors: Nzioka Muiya, Mohammed Al-Najai, Asma I Tahir, Samar Elhawari, Daisy Gueco, Editha Andres, Nejat Mazhar, Nada Altassan, Brian F Meyer, Maie Alshahid and Nduna Dzimiri
    Citation: BMC Medical Genetics 2013 14:127
    Content type: Research article Published on:

  27. Nitric oxide (NO), produced by endothelial nitric oxide synthase (eNOS), plays a key role in the regulation of vascular tone. Endothelium-derived NO exerts vasoprotective effects by suppressing platelet aggreg...

    Authors: Chaido Dafni, Nikolaos Drakoulis, Olfert Landt, Dimitris Panidis, Martin Reczko and Dennis V Cokkinos
    Citation: BMC Medical Genetics 2010 11:133
    Content type: Research article Published on:

  28. The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the ...

    Authors: Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller and Eivind Hovig
    Citation: BMC Medical Genetics 2018 19:26
    Content type: Research article Published on:

  29. Common FTO (fat mass and obesity associated) gene variants have recently been strongly associated with body mass index and obesity in several large studies. Here we set out to examine the association of the FTO v...

    Authors: Josefin A Jacobsson, Ulf Risérus, Tomas Axelsson, Lars Lannfelt, Helgi B Schiöth and Robert Fredriksson
    Citation: BMC Medical Genetics 2009 10:131
    Content type: Research article Published on:

  30. The interactive effect of the IGF pathway genes with the environment may contribute to childhood obesity. Such gene-environment interactions can take on complex forms. Detecting those relationships using longi...

    Authors: Cheng Wang, Marie-Hélène Roy-Gagnon, Jean-François Lefebvre, Kelly M. Burkett and Lise Dubois
    Citation: BMC Medical Genetics 2019 20:9
    Content type: Research article Published on:

  31. Individuals belonging to the same family share a number of genetic as well as environmental circumstances that may condition a common SBP level. Among the genetic factors, the angiotensin converting enzyme (AC...

    Authors: Juan Merlo, Kristina Bengtsson-Boström, Ulf Lindblad, Lennart Råstam and Olle Melander
    Citation: BMC Medical Genetics 2006 7:14
    Content type: Research article Published on:

  32. 7B2 is a regulator/activator of the prohormone convertase 2 which is involved in the processing of numerous neuropeptides, including insulin, glucagon and pro-opiomelanocortin. We have previously described a s...

    Authors: Nabila Bouatia-Naji, Vincent Vatin, Cécile Lecoeur, Barbara Heude, Christine Proença, Jacques Veslot, Béatrice Jouret, Jean Tichet, Guillaume Charpentier, Michel Marre, Beverley Balkau, Philippe Froguel and David Meyre
    Citation: BMC Medical Genetics 2007 8:44
    Content type: Research article Published on:

  33. Schizophrenia is a complex, multifactorial psychiatric disorder. Our previous findings indicated that altered functional activity of the complement system, a major mediator of the immune response, is implicate...

    Authors: Roksana Zakharyan, Aren Khoyetsyan, Arsen Arakelyan, Anna Boyajyan, Anaida Gevorgyan, Anna Stahelova, Frantisek Mrazek and Martin Petrek
    Citation: BMC Medical Genetics 2011 12:126
    Content type: Research article Published on:

  34. Temporomandibular disorder (TMD) is a multifactorial syndrome related to a critical period of human life. TMD has been associated with psychological dysfunctions, oxidative state and sexual dimorphism with coi...

    Authors: Angel Aneiros-Guerrero, Ana M Lendinez, Arturo R Palomares, Beatriz Perez-Nevot, Lidia Aguado, Alvaro Mayor-Olea, Maximiliano Ruiz-Galdon and Armando Reyes-Engel
    Citation: BMC Medical Genetics 2011 12:75
    Content type: Research article Published on:

  35. There is evidence that one of the key type 2 diabetes (T2D) loci identified by GWAS exerts its influence early on in life through its impact on pediatric BMI. This locus on 10q23 harbors three genes, encoding ...

    Authors: Jianhua Zhao, Sandra Deliard, Ali Rahim Aziz and Struan FA Grant
    Citation: BMC Medical Genetics 2012 13:89
    Content type: Research article Published on:

  36. PGF and TNFAIP2 are important angiogenic factors, which were abnormal expression in cervical cancer (CC). However, there is currently no report investigating the relationship of PGF and TNFAIP2 gene polymorphisms...

    Authors: Zumurelaiti Ainiwaer, Reyilanmu Maisaidi, Jing Liu, Lili Han, Sulaiya Husaiyin, Jing Lu and Mayinuer Niyazi
    Citation: BMC Medical Genetics 2020 21:212
    Content type: Research article Published on:

  37. Ivermectin, a substrate of multidrug resistance (MDR1) gene and cytochrome P450 (CYP) 3A4, has been used successfully in the treatment of onchocerciasis in Ghana. However, there have been reports of suboptimal...

    Authors: William Kudzi, Alexander NO Dodoo and Jeremy J Mills
    Citation: BMC Medical Genetics 2010 11:111
    Content type: Research article Published on:

  38. The protein of Niemann-pick type C1 gene (NPC1) is known to facilitate the egress of cholesterol and other lipids from late endosomes and lysosomes to other cellular compartments. This study aims to investigate w...

    Authors: Weiwei Ma, Jing Xu, Qianqian Wang, Ying Xin, Lin Zhang, Xinxin Zheng, Hu Wang, Kai Sun, Rutai Hui and Xiaohong Huang
    Citation: BMC Medical Genetics 2010 11:149
    Content type: Research article Published on:

  39. Human height is considered highly heritable and correlated with certain disorders, such as type 2 diabetes and cancer. Despite environmental influences, genetic factors are known to play an important role in s...

    Authors: Jianhua Zhao, Mingyao Li, Jonathan P Bradfield, Haitao Zhang, Frank D Mentch, Kai Wang, Patrick M Sleiman, Cecilia E Kim, Joseph T Glessner, Cuiping Hou, Brendan J Keating, Kelly A Thomas, Maria L Garris, Sandra Deliard, Edward C Frackelton, F George Otieno…
    Citation: BMC Medical Genetics 2010 11:96
    Content type: Research article Published on:

  40. Osteoarthritis (OA) is a progressive joint disease characterized by gradual degradation of extracellular matrix (ECM) components in the cartilage and bone. The ECM of cartilage is a highly specified structure ...

    Authors: Mamdooh Abdullah Gari, Mohammed AlKaff, Haneen S. Alsehli, Ashraf Dallol, Abdullah Gari, Muhammad Abu-Elmagd, Roaa Kadam, Mohammed F. Abuzinadah, Mazin Gari, Adel M. Abuzenadah, Kalamegam Gauthaman, Heba Alkhatabi and Mohammed M. Abbas
    Citation: BMC Medical Genetics 2016 17(Suppl 1):68
    Content type: Review Published on:

    This article is part of a Supplement: Volume 17 Supplement 1

  41. Candidate gene and genome-wide association studies have both reproducibly identified several common Single Nucleotide Polymorphisms (SNPs) that confer type 2 diabetes (T2D) risk in European populations. Our ai...

    Authors: Intissar Ezzidi, Nabil Mtiraoui, Stéphane Cauchi, Emmanuel Vaillant, Aurélie Dechaume, Molka Chaieb, Maha Kacem, Wassim Y Almawi, Philippe Froguel, Touhami Mahjoub and Martine Vaxillaire
    Citation: BMC Medical Genetics 2009 10:33
    Content type: Research article Published on:

  42. Although there have been studies of the genetic risk factors in the development of stroke, there have ... could act as modifiers of this response and impact stroke volume. One of the pathways participating...

    Authors: Ana VC Dutra, Hsiu-Fen Lin, Suh-Hang H Juo, Harvey Mohrenweiser, Souvik Sen and Raji P Grewal
    Citation: BMC Medical Genetics 2006 7:78
    Content type: Research article Published on:

  43. MUTYH associated polyposis (MAP) is an autosomal recessive inherited disorder. Carriers of bi-allelic MUTYH germline mutations have a risk of approximately 60% to develop colorectal carcinoma (CRC). In the genera...

    Authors: Maartje Nielsen, Frederik J Hes, Hans FA Vasen and Wilbert B van den Hout
    Citation: BMC Medical Genetics 2007 8:42
    Content type: Research article Published on:

  44. Genetic variation in NOD2 and cigarette smoking are well-established risk factors for the development of Crohn's disease (CD). However, little is known about a potential interaction between these risk factors. We...

    Authors: Katherine L Helbig, Michael Nothnagel, Jochen Hampe, Tobias Balschun, Susanna Nikolaus, Stefan Schreiber, Andre Franke and Ute Nöthlings
    Citation: BMC Medical Genetics 2012 13:14
    Content type: Research article Published on:

  45. The etiology of Ulcerative Colitis (UC) and Crohn's Disease (CD), considered together as Inflammatory Bowel Diseases (IBD), involves environmental and genetic factors. Although some genes are already known, th...

    Authors: Concepción Núñez, Javier Oliver, Juan Luis Mendoza, María Gómez-García, Carlos Taxonera, Luis M Gómez, Miguel A López-Nevot, Emilio G de la Concha, Elena Urcelay, Alfonso Martínez and Javier Martín
    Citation: BMC Medical Genetics 2007 8:75
    Content type: Research article Published on:

  46. Left ventricular mass (LVM) is a strong, independent predictor of heart disease incidence and mortality. LVM is a complex, quantitative trait with genetic and environmental risk factors. This research characte...

    Authors: Kristin J Meyers, Jian Chu, Thomas H Mosley and Sharon LR Kardia
    Citation: BMC Medical Genetics 2010 11:160
    Content type: Research article Published on:

  47. Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000–3000) autosomal-dominant disorder with high risk of venous thromboembolis...

    Authors: Margarita E. Polyak and Elena V. Zaklyazminskaya
    Citation: BMC Medical Genetics 2020 21:73
    Content type: Case report Published on:

  48. The mitochondrial genotype 5178 cytosine/adenine (5178 C > A) within the NADH dehydrogenase subunit-2 gene (ND2) was proved to associate with longevity and predispose resistance to adult-onset diseases. This s...

    Authors: Xi Chen, Xiang-Yu He, Chao Zhu, Yusong Zhang, Zongbin Li, Yuqi Liu, Yuxiao Zhang, Tong Yin and Yang Li
    Citation: BMC Medical Genetics 2019 20:121
    Content type: Research article Published on:

  49. Conserved non-coding regions (CNR) have been shown to harbor gene expression regulatory elements. Genetic variations in these regions may potentially contribute to complex disease susceptibility.

    Authors: Katrin Kepp, Elin Org, Siim Sõber, Piret Kelgo, Margus Viigimaa, Gudrun Veldre, Neeme Tõnisson, Peeter Juhanson, Margus Putku, Andreas Kindmark, Viktor Kožich and Maris Laan
    Citation: BMC Medical Genetics 2010 11:15
    Content type: Research article Published on:

  50. Estrogen activity plays a critical role in bone homeostasis. The serum levels of sex hormone binding globulin (SHBG) influence free estrogen levels and activity on target tissues. The objective of this study w...

    Authors: José A Riancho, Carmen Valero, María T Zarrabeitia, María T García-Unzueta, José A Amado and Jesús González-Macías
    Citation: BMC Medical Genetics 2008 9:112
    Content type: Research article Published on:

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