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  1. Blood lipid levels including low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG) are highly heritable. Genome-wide association is a promising appro...

    Authors: Sekar Kathiresan, Alisa K Manning, Serkalem Demissie, Ralph B D'Agostino, Aarti Surti, Candace Guiducci, Lauren Gianniny, Nöel P Burtt, Olle Melander, Marju Orho-Melander, Donna K Arnett, Gina M Peloso, Jose M Ordovas and L Adrienne Cupples

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S17

    Content type: Research

    Published on:

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

  2. 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

  3. Pulmonary function measures obtained by spirometry are used to diagnose chronic obstructive pulmonary disease (COPD) and are highly heritable. We conducted genome-wide association (GWA) analyses (Affymetrix 10...

    Authors: Jemma B Wilk, Robert E Walter, Jason M Laramie, Daniel J Gottlieb and George T O'Connor

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S8

    Content type: Research

    Published on:

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

  4. Breast and prostate cancer are two commonly diagnosed cancers in the United States. Prior work suggests that cancer causing genes and cancer susceptibility genes can be identified.

    Authors: Joanne M Murabito, Carol L Rosenberg, Daniel Finger, Bernard E Kreger, Daniel Levy, Greta Lee Splansky, Karen Antman and Shih-Jen Hwang

    Citation: BMC Medical Genetics 2007 8(Suppl 1):S6

    Content type: Research

    Published on:

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

  5. The complement factor H (CFH) gene has been recently confirmed to play an essential role in the development of age-related macular degeneration (AMD). There are conflicting reports of its role in coronary hear...

    Authors: Weihua Meng, Anne Hughes, Chris C Patterson, Christine Belton, Muhammad S Kamaruddin, Paul G Horan, Frank Kee and Pascal P McKeown

    Citation: BMC Medical Genetics 2007 8:62

    Content type: Research article

    Published on:

  6. As part of the NHLBI Family Blood Pressure Program, the Genetic Epidemiology Network of Arteriopathy (GENOA) recruited 575 sibships (n = 1583 individuals) from Rochester, MN who had at least two hypertensive s...

    Authors: Sharon LR Kardia, Yan V Sun, Sara C Hamon, Ruth Ann Barkley, Eric Boerwinkle and Stephen T Turner

    Citation: BMC Medical Genetics 2007 8:61

    Content type: Research article

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  7. The exact etiology of ischemic stroke remains unclear, because multiple genetic predispositions and environmental risk factors may be involved, and their interactions dictate the complexity. Family-based studi...

    Authors: Xun Tang, Yonghua Hu, Dafang Chen, Siyan Zhan, Zongxin Zhang and Huidong Dou

    Citation: BMC Medical Genetics 2007 8:60

    Content type: Study protocol

    Published on:

  8. The platelet P2Y12 receptor plays a key role in platelet activation. The H2 haplotype of the P2Y12 receptor gene (P2RY12) has been found to be associated with maximal aggregation response to adenosine diphosphate...

    Authors: Ugo Cavallari, Elisabetta Trabetti, Giovanni Malerba, Michele Biscuola, Domenico Girelli, Oliviero Olivieri, Nicola Martinelli, Dominick J Angiolillo, Roberto Corrocher and Pier Franco Pignatti

    Citation: BMC Medical Genetics 2007 8:59

    Content type: Research article

    Published on:

  9. Autosomal Recessive Primary Microcephaly (MCPH) is a disorder of neurogenic mitosis. MCPH leads to reduced cerebral cortical volume and hence, reduced head circumference associated with mental retardation of v...

    Authors: Muhammad Jawad Hassan, Maryam Khurshid, Zahid Azeem, Peter John, Ghazanfar Ali, Muhammad Salman Chishti and Wasim Ahmad

    Citation: BMC Medical Genetics 2007 8:58

    Content type: Research article

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  10. Migraine with aura (MA) is a subtype of typical migraine. Migraine with aura (MA) also encompasses a rare severe subtype Familial Hemiplegic Migraine (FHM) with several known genetic loci. The type 2 FHM (FHM-...

    Authors: Francesca Fernandez, Robert P Curtain, Natalie J Colson, Micky Ovcaric, John MacMillan and Lyn R Griffiths

    Citation: BMC Medical Genetics 2007 8:57

    Content type: Research article

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  11. Of the five sub-phenotypes defining metabolic syndrome, all are known to have strong genetic components (typically 50–80% of population variation). Studies defining genetic predispositions have typically focus...

    Authors: Julieta Uthurralt, Heather Gordish-Dressman, Meg Bradbury, Carolina Tesi-Rocha, Joseph Devaney, Brennan Harmon, Erica K Reeves, Cinzia Brandoli, Barbara C Hansen, Richard L Seip, Paul D Thompson, Thomas B Price, Theodore J Angelopoulos, Priscilla M Clarkson, Niall M Moyna, Linda S Pescatello…

    Citation: BMC Medical Genetics 2007 8:55

    Content type: Research article

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  12. The protein tyrosine phosphatase N22 gene (PTPN22) encodes a lymphoid-specific phosphatase (LYP) which is an important downregulator of T cell activation. A PTPN22 polymorphism, C1858T, was found associated with ...

    Authors: Jose Luis Santiago, Alfonso Martínez, Hermenegildo de la Calle, Miguel Fernández-Arquero, M Ángeles Figueredo, Emilio G de la Concha and Elena Urcelay

    Citation: BMC Medical Genetics 2007 8:54

    Content type: Research article

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  13. The Krüppel-like factor (KLF) family consists of transcription factors that can activate or repress different genes implicated in processes such as differentiation, development, and cell cycle progression. Moreov...

    Authors: Ruth Gutiérrez-Aguilar, Yamina Benmezroua, Emmanuel Vaillant, Beverley Balkau, Michel Marre, Guillaume Charpentier, Rob Sladek, Philippe Froguel and Bernadette Neve

    Citation: BMC Medical Genetics 2007 8:53

    Content type: Research article

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  14. Hereditary defects of tooth dentin are classified into two main groups: dentin dysplasia (DD) (types I and II) and dentinogenesis imperfecta (DGI) (types I, II, and III). Type II DGI is one of the most common ...

    Authors: Xianqin Zhang, Lanying Chen, Jingyu Liu, Zhen Zhao, Erjun Qu, Xiaotao Wang, Wei Chang, Chengqi Xu, Qing K Wang and Mugen Liu

    Citation: BMC Medical Genetics 2007 8:52

    Content type: Research article

    Published on:

  15. TCF7L2 belongs to a subfamily of TCF7-like HMG box-containing transcription factors, and maps to human chromosome 10q25.3. A recent study identified genetic association of type 2 diabetes (T2D) with this gene, c...

    Authors: Hui-Qi Qu and Constantin Polychronakos

    Citation: BMC Medical Genetics 2007 8:51

    Content type: Research article

    Published on:

  16. Cell division occurs during normal human development and aging. Despite the likely importance of cell division to human pathology, it has been difficult to infer somatic cell mitotic ages (total numbers of div...

    Authors: Michelle W Chu, Kimberly D Siegmund, Carrie L Eckstam, Jung Yeon Kim, Allen S Yang, Gary C Kanel, Simon Tavaré and Darryl Shibata

    Citation: BMC Medical Genetics 2007 8:50

    Content type: Research article

    Published on:

  17. Apolipoprotein E (APOE) and elastin (ELN) are plausible candidate genes involved in the pathogenesis of stroke. We tested for association of variants in APOE and ELN with subarachnoid hemorrhage (SAH) in a popula...

    Authors: Ritesh Kaushal, Daniel Woo, Prodipto Pal, Mary Haverbusch, Huifeng Xi, Charles Moomaw, Padmini Sekar, Brett Kissela, Dawn Kleindorfer, Matthew Flaherty, Laura Sauerbeck, Ranajit Chakraborty, Joseph Broderick and Ranjan Deka

    Citation: BMC Medical Genetics 2007 8:49

    Content type: Research article

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  18. A disruption of sorting nexin 3 (SNX3) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no SNX3 mutations were identifi...

    Authors: Ravinesh A Kumar, David B Everman, Chad T Morgan, Anne Slavotinek, Charles E Schwartz and Elizabeth M Simpson

    Citation: BMC Medical Genetics 2007 8:48

    Content type: Research article

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  19. Human linkage and animal QTL studies have indicated the contribution of genes on Chr17 into blood pressure regulation. One candidate gene is PNMT, coding for phenylethanolamine-N-methyltransferase, catalyzing the...

    Authors: Katrin Kepp, Peeter Juhanson, Viktor Kozich, Mai Ots, Margus Viigimaa and Maris Laan

    Citation: BMC Medical Genetics 2007 8:47

    Content type: Research article

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  20. ADAM33 has been identified as an asthma-associated gene in an out-bred population. Genetic studies suggested that the functional role of this metalloprotease was in airway remodeling. However, the mechanistic ...

    Authors: Richard G Del Mastro, Laura Turenne, Heidi Giese, Tim P Keith, Paul Van Eerdewegh, Klaus JW May and Randall D Little

    Citation: BMC Medical Genetics 2007 8:46

    Content type: Research article

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  21. Apolipoprotein (Apo) B is the major component of low-density lipoprotein (LDL), very low-density lipoprotein (VLDL) and chylomicrons. Many genetic polymorphisms of the Apo B have been described, associated wit...

    Authors: Yin Ruixing, Chen Guangqin, Wang Yong, Lin Weixiong, Yang Dezhai and Pan Shangling

    Citation: BMC Medical Genetics 2007 8:45

    Content type: Research article

    Published on:

  22. 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:

  23. Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD re...

    Authors: Annemieke Aartsma-Rus, Anneke AM Janson, Gert-Jan B van Ommen and Judith CT van Deutekom

    Citation: BMC Medical Genetics 2007 8:43

    Content type: Research article

    Published on:

  24. 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:

  25. Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance due primarily to genetic defects in Fas (CD95/APO-1; TNFRSF6), a cell surface receptor that regul...

    Authors: Lilia L Bi, George Pan, T Prescott Atkinson, Lixin Zheng, Janet K Dale, Christopher Makris, Vishnu Reddy, Jay M McDonald, Richard M Siegel, Jennifer M Puck, Michael J Lenardo and Stephen E Straus

    Citation: BMC Medical Genetics 2007 8:41

    Content type: Research article

    Published on:

  26. It is estimated that 5–10% of all breast cancer are hereditary and attributable to mutations in the highly penetrance susceptibility genes BRCA1 and BRCA2. The genetic analysis of these genes is complex and expen...

    Authors: Sandra Filippini, Ana Blanco, Ana Fernández-Marmiesse, Vanesa Álvarez-Iglesias, Clara Ruíz-Ponte, Ángel Carracedo and Ana Vega

    Citation: BMC Medical Genetics 2007 8:40

    Content type: Research article

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  27. The FABP2 gene encodes for the intestinal FABP (IFABP) protein, which is expressed only in intestinal enterocytes. A polymorphism at codon 54 in exon 2 of the FABP2 gene exchanges an Alanine (Ala), in the smal...

    Authors: Laura C Gomez, Sebastián M Real, Marta S Ojeda, Sergio Gimenez, Luis S Mayorga and María Roqué

    Citation: BMC Medical Genetics 2007 8:39

    Content type: Research article

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  28. The 3'-untranslated region (3'-UTR) of mRNA contains regulatory elements that are essential for the appropriate expression of many genes. These regulatory elements are involved in the control of nuclear transp...

    Authors: Stella Marie Reamon-Buettner, Si-Hyen Cho and Juergen Borlak

    Citation: BMC Medical Genetics 2007 8:38

    Content type: Research article

    Published on:

  29. In adults, the TCF7L2 rs7903146 T allele, commonly associated with type 2 diabetes (T2D), has been also associated with a lower body mass index (BMI) in T2D individuals and with a smaller waist circumference in s...

    Authors: Stéphane Cauchi, David Meyre, Hélène Choquet, Samia Deghmoun, Emmanuelle Durand, Stefan Gaget, Cécile Lecoeur, Philippe Froguel and Claire Levy-Marchal

    Citation: BMC Medical Genetics 2007 8:37

    Content type: Research article

    Published on:

  30. MeCP2, methyl-CpG-binding protein 2, binds to methylated cytosines at CpG dinucleotides, as well as to unmethylated DNA, and affects chromatin condensation. MECP2 mutations in females lead to Rett syndrome, a neu...

    Authors: ChaRandle Jordan, Hong Hua Li, Helen C Kwan and Uta Francke

    Citation: BMC Medical Genetics 2007 8:36

    Content type: Research article

    Published on:

  31. The role of gene-environment interactions as risk factors for coronary heart disease (CAD) remains largely undefined. Such interactions may involve gene mutations and disease conditions such as type 2 diabetes...

    Authors: Khaled K Abu-Amero, Futwan Al-Mohanna, Olayan M Al-Boudari, Gamal H Mohamed and Nduna Dzimiri

    Citation: BMC Medical Genetics 2007 8:35

    Content type: Research article

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  32. The catechol-O-methyltransferase (COMT) gene contains a functional polymorphism, Val158Met which has been related to common diseases like cancer, psychiatric illness and myocardial infarction. Whether the Val158M...

    Authors: Knut Hagen, Lars J Stovner, Frank Skorpen, Elin Pettersen and John-Anker Zwart

    Citation: BMC Medical Genetics 2007 8:34

    Content type: Research article

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  33. The chemokine receptor CCR5 has been detected at elevated levels on synovial T cells, and a 32 bp deletion in the CCR5 gene leads to a non-functional receptor. A negative association between the CCR5Δ32 and rheum...

    Authors: Ewald Lindner, Gry BN Nordang, Espen Melum, Berit Flatø, Anne Marit Selvaag, Erik Thorsby, Tore K Kvien, Øystein T Førre and Benedicte A Lie

    Citation: BMC Medical Genetics 2007 8:33

    Content type: Research article

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  34. Alterations in the highly penetrant cancer susceptibility gene BRCA1 are responsible for the majority of hereditary breast and/or ovarian cancers. However, the number of detected germline mutations has been lower...

    Authors: Petra Vasickova, Eva Machackova, Miroslava Lukesova, Jiri Damborsky, Ondrej Horky, Hana Pavlu, Jitka Kuklova, Veronika Kosinova, Marie Navratilova and Lenka Foretova

    Citation: BMC Medical Genetics 2007 8:32

    Content type: Research article

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  35. Ischaemic stroke is a common disorder with genetic and environmental components contributing to overall risk. Atherothromboembolic abnormalities, which play a crucial role in the pathogenesis of ischaemic stro...

    Authors: Alireza Pasdar, Ghasem Yadegarfar, Alastair Cumming, Lawrence Whalley, David St Clair and Mary-Joan MacLeod

    Citation: BMC Medical Genetics 2007 8:30

    Content type: Research article

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  36. There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the nort...

    Authors: Cristian Pattaro, Fabio Marroni, Alice Riegler, Deborah Mascalzoni, Irene Pichler, Claudia B Volpato, Umberta Dal Cero, Alessandro De Grandi, Clemens Egger, Agatha Eisendle, Christian Fuchsberger, Martin Gögele, Sara Pedrotti, Gerd K Pinggera, Stefan A Stefanov, Florian D Vogl…

    Citation: BMC Medical Genetics 2007 8:29

    Content type: Research article

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  37. N-acetyltransferase 1 (NAT1) and 2 (NAT2) are polymorphic isoenzymes responsible for the metabolism of numerous drugs and carcinogens. Acetylation catalyzed by NAT1 and NAT2 are important in metabolic activati...

    Authors: Suhal S Mahid, Daniel W Colliver, Nigel PS Crawford, Benjamin D Martini, Mark A Doll, David W Hein, Gary A Cobbs, Robert E Petras and Susan Galandiuk

    Citation: BMC Medical Genetics 2007 8:28

    Content type: Research article

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  38. The renin-angiotensin-aldosterone system (RAAS) is involved in the cardiovascular homeostasis as shown by previous studies reporting a positive association between specific RAAS genotypes and an increased risk...

    Authors: Erica Franco, Luigi Palumbo, Francesca Crobu, Matteo Anselmino, Simone Frea, Giuseppe Matullo, Alberto Piazza, Gian Paolo Trevi and Serena Bergerone

    Citation: BMC Medical Genetics 2007 8:27

    Content type: Research article

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  39. Wolfram syndrome gene 1 (WFS1) accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by sensorineural hearing losses equal to and below 2000 Hz. T...

    Authors: Hsun-Tien Tsai, Ying-Piao Wang, Shing-Fang Chung, Hung-Ching Lin, Guan-Min Ho and Min-Tsan Shu

    Citation: BMC Medical Genetics 2007 8:26

    Content type: Research article

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  40. Cognitive impairments are heterogeneous conditions, and it is estimated that 10% may be caused by a defect of mental function genes on the X chromosome. One of those genes is Aristaless related homeobox (ARX) enc...

    Authors: Carmela Laperuta, Letizia Spizzichino, Pio D'Adamo, Jlenia Monfregola, Antonio Maiorino, Angela D'Eustacchio, Valerio Ventruto, Giovanni Neri, Michele D'Urso, Pietro Chiurazzi, Matilde Valeria Ursini and Maria Giuseppina Miano

    Citation: BMC Medical Genetics 2007 8:25

    Content type: Research article

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  41. Methylmalonic acidemia (MMA), a common organic aciduria, is caused by deficiency of the mitochondrial localized, 5'deoxyadenosylcobalamin dependent enzyme, methylmalonyl-CoA mutase (MUT). Liver transplantation...

    Authors: Randy J Chandler, Matthew S Tsai, Kenneth Dorko, Jennifer Sloan, Mark Korson, Richard Freeman, Stephen Strom and Charles P Venditti

    Citation: BMC Medical Genetics 2007 8:24

    Content type: Research article

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  42. Vascular endothelial growth factor (VEGF) has neurotrophic activity which is mediated by its main agonist receptor, VEGFR2. Dysregulation of VEGF causes motor neurone degeneration in a mouse model of amyotroph...

    Authors: Alice Brockington, Beatrijs Wokke, Hannah Nixon, Judith Hartley and Pamela J Shaw

    Citation: BMC Medical Genetics 2007 8:23

    Content type: Research article

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  43. By performing extensive scanning of whole coding and flanking sequences of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, we had previously identified point mutations in 167 out of 182 (91.7...

    Authors: Magali Taulan, Anne Girardet, Caroline Guittard, Jean-Pierre Altieri, Carine Templin, Christophe Beroud, Marie des Georges and Mireille Claustres

    Citation: BMC Medical Genetics 2007 8:22

    Content type: Research article

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  44. The suppressor of cytokine signaling (SOCS)-3 is a negative feedback regulator of cytokine signaling and also influences leptin signaling. We investigated association of variations in the coding sequence and p...

    Authors: Katja Hölter, Anne-Kathrin Wermter, André Scherag, Wolfgang Siegfried, Hanspeter Goldschmidt, Johannes Hebebrand and Anke Hinney

    Citation: BMC Medical Genetics 2007 8:21

    Content type: Research article

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  45. Cytokines play an important role in the development of diabetic chronic renal insufficiency (CRI). Transforming growth factor β1 (TGF β1) induces renal hypertrophy and fibrosis, and cytokines like tumor necros...

    Authors: Pushplata Prasad, Arun K Tiwari, KM Prasanna Kumar, AC Ammini, Arvind Gupta, Rajeev Gupta and BK Thelma

    Citation: BMC Medical Genetics 2007 8:20

    Content type: Research article

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  46. Myostatin is a negative regulator of skeletal muscle growth. Truncating mutations in the myostatin gene have been reported to result in gross muscle hypertrophy. Duchenne muscular dystrophy (DMD), the most com...

    Authors: Atsushi Nishiyama, Yasuhiro Takeshima, Kayoko Saiki, Akiko Narukage, Yoshinobu Oyazato, Mariko Yagi and Masafumi Matsuo

    Citation: BMC Medical Genetics 2007 8:19

    Content type: Research article

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  47. The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the ...

    Authors: Maria Giuseppina Miano, Carmela Laperuta, Pietro Chiurazzi, Michele D'Urso and Matilde Valeria Ursini

    Citation: BMC Medical Genetics 2007 8:18

    Content type: Case report

    Published on:

  48. Tachycardia is commonly observed in hypertensive patients, predominantly mediated by regulatory mechanisms integrated within the autonomic nervous system. The genetic loci and genes associated with increased h...

    Authors: Gustavo JJ Silva, Alexandre C Pereira, Eduardo M Krieger and José E Krieger

    Citation: BMC Medical Genetics 2007 8:17

    Content type: Research article

    Published on: