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  1. GLUT10 (gene symbol SLC2A10) is a facilitative glucose transporter within the type 2 diabetes (T2DM)-linked region on chromosome 20q12-13.1. Therefore, we evaluated GLUT10 as a positional candidate gene for T2...

    Authors: Jennifer L Bento, Donald W Bowden, Josyf C Mychaleckyj, Shohei Hirakawa, Stephen S Rich, Barry I Freedman and Fernando Segade

    Citation: BMC Medical Genetics 2005 6:42

    Content type: Research article

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  2. The recessive disorder trimethylaminuria is caused by defects in the FMO3 gene, and may be associated with hypertension. We investigated whether common polymorphisms of the FMO3 gene confer an increased risk for ...

    Authors: Ciara Dolan, Denis C Shields, Alice Stanton, Eoin O'Brien, Deborah M Lambert, John K O'Brien and Eileen P Treacy

    Citation: BMC Medical Genetics 2005 6:41

    Content type: Research article

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  3. It is generally accepted that genetic factors play a role in susceptibility to both leprosy per se and leprosy type, but only few studies have tempted to quantify this. Estimating the contribution of genetic fact...

    Authors: Mirjam I Bakker, Linda May, Mochammad Hatta, Agnes Kwenang, Paul R Klatser, Linda Oskam and Jeanine J Houwing-Duistermaat

    Citation: BMC Medical Genetics 2005 6:40

    Content type: Research article

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  4. The SDHA, SDHB, SDHC and SDHD genes encode the subunits of succinate dehydrogenase (succinate: ubiquinone oxidoreductase), a component of both the Krebs cycle and the mitochondrial respiratory chain. SDHA, a f...

    Authors: Jean-Pierre Bayley, Peter Devilee and Peter EM Taschner

    Citation: BMC Medical Genetics 2005 6:39

    Content type: Database

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  5. Vascular disease is a feature of aging, and coronary vascular events are a major source of morbidity and mortality in rare premature aging syndromes. One such syndrome is caused by mutations in the lamin A/C (LMN...

    Authors: Adrian F Low, Christopher J O'Donnell, Sekar Kathiresan, Brendan Everett, Claudia U Chae, Stanley Y Shaw, Patrick T Ellinor and Calum A MacRae

    Citation: BMC Medical Genetics 2005 6:38

    Content type: Research article

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  6. Defective insulin secretion is a key defect in the pathogenesis of type 2 diabetes (T2DM). The β-cell specific transcription factor, insulin promoter factor 1 gene (IPF1), is essential to pancreatic development a...

    Authors: Mohammad A Karim, Xiaoqin Wang, Terri C Hale and Steven C Elbein

    Citation: BMC Medical Genetics 2005 6:37

    Content type: Research article

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  7. The minor histocompatibility antigens (mHags) are self-peptides derived from common cellular proteins and presented by MHC class I and II molecules. Disparities in mHags are a potential risk for the developmen...

    Authors: Claudio Graziano, Massimo Giorgi, Cecilia Malentacchi, Pier Luigi Mattiuz and Berardino Porfirio

    Citation: BMC Medical Genetics 2005 6:36

    Content type: Technical advance

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  8. TP53 is an attractive candidate for modifying age of onset (AO) in Huntington disease (HD): The amino-terminus of the mutated huntingtin (htt) exon 1 translation product has functional properties which may affec...

    Authors: Larissa Arning, Peter H Kraus, Carsten Saft, Jürgen Andrich and Jörg T Epplen

    Citation: BMC Medical Genetics 2005 6:35

    Content type: Research article

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  9. For allergic disorders, the increasing prevalence over the past decade has been attributed in part to the lack of microbial burden in developed countries ('hygiene hypothesis'). Variation in genes encoding tol...

    Authors: Sabine Hoffjan, Susanne Stemmler, Qumar Parwez, Elisabeth Petrasch-Parwez, Umut Arinir, Gernot Rohde, Karin Reinitz-Rademacher, Gerhard Schultze-Werninghaus, Albrecht Bufe and Jörg T Epplen

    Citation: BMC Medical Genetics 2005 6:34

    Content type: Research article

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  10. Mitotic configurations consistent in split centromeres and splayed chromatids in all or most of the chromosomes or premature centromere division (PCD) have been described in three categories. (1) Low frequency...

    Authors: Alfredo Corona-Rivera, Fabio Salamanca-Gomez, Lucina Bobadilla-Morales, Jorge R Corona-Rivera, Cesar Palomino-Cueva, Teresa A Garcia-Cobian and Enrique Corona-Rivera

    Citation: BMC Medical Genetics 2005 6:33

    Content type: Research article

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  11. Migraine is a polygenic multifactorial disease, possessing environmental and genetic causative factors with multiple involved genes. Mutations in various ion channel genes are responsible for a number of neuro...

    Authors: Robert Curtain, James Sundholm, Rod Lea, Mick Ovcaric, John MacMillan and Lyn Griffiths

    Citation: BMC Medical Genetics 2005 6:32

    Content type: Research article

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  12. Attention Deficit Hyperactivity Disorder (ADHD) is a prevalent and highly heritable childhood disorder. The dopamine D4 receptor (DRD4) gene has shown a genetic association with ADHD in Caucasian populations w...

    Authors: Keeley-Joanne Brookes, Xiaohui Xu, Chih-Ken Chen, Yu-Shu Huang, Yu-Yu Wu and Philip Asherson

    Citation: BMC Medical Genetics 2005 6:31

    Content type: Research article

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  13. Cochlear outer hair cells change their length in response to variations in membrane potential. This capability, called electromotility, is believed to enable the sensitivity and frequency selectivity of the ma...

    Authors: Hsiao-Yuan Tang, Anping Xia, John S Oghalai, Fred A Pereira and Raye L Alford

    Citation: BMC Medical Genetics 2005 6:30

    Content type: Research article

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  14. Recent evidence suggest that the innate immune system is implicated in the early events of celiac disease (CD) pathogenesis. In this work for the first time we have assessed the relevance of different proinfla...

    Authors: B Rueda, A Zhernakova, MA López-Nevot, J Martín and BPC Koeleman

    Citation: BMC Medical Genetics 2005 6:29

    Content type: Research article

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  15. Since it's recognition in 1981, a more complete phenotype of Kabuki syndrome is becoming evident as additional cases are identified. Congenital heart defects and a number of visceral abnormalities have been ad...

    Authors: Maulik Shah, Brian Bogucki, Melissa Mavers, Daphne E deMello and Alan Knutsen

    Citation: BMC Medical Genetics 2005 6:28

    Content type: Case report

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  16. Spinocerebellar ataxia type 17 (SCA17), a neurodegenerative disorder in man, is caused by an expanded polymorphic polyglutamine-encoding trinucleotide repeat in the gene for TATA-box binding protein (TBP), a m...

    Authors: Christine Zühlke, Andreas Dalski, Eberhard Schwinger and Ulrich Finckh

    Citation: BMC Medical Genetics 2005 6:27

    Content type: Research article

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  17. 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

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  18. Gaucher disease type I, the non-neuropathic type, usually presents in adulthood with hepatosplenomegaly. We report here an adult with type I Gaucher disease presented with unusual and severe clinical manifesta...

    Authors: Chun-An Chen, Nelson LS Tang, Yin-Hsiu Chien, Wei-Min Zhang, Jou-Kou Wang and Wuh-Liang Hwu

    Citation: BMC Medical Genetics 2005 6:25

    Content type: Case report

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  19. Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE), and of its main mutation (C282Y), has radically...

    Authors: Virginie Scotet, Gérald Le Gac, Marie-Christine Mérour, Anne-Yvonne Mercier, Brigitte Chanu, Chandran Ka, Catherine Mura, Jean-Baptiste Nousbaum and Claude Férec

    Citation: BMC Medical Genetics 2005 6:24

    Content type: Research article

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  20. Methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to conversion of 5,10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF. Two common polymo...

    Authors: Eckart Schnakenberg, Andrea Mehles, Gunnar Cario, Klaus Rehe, Kathrin Seidemann, Brigitte Schlegelberger, Holger A Elsner, Karl H Welte, Martin Schrappe and Martin Stanulla

    Citation: BMC Medical Genetics 2005 6:23

    Content type: Research article

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  21. Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in...

    Authors: Akanchha Kesari, Hanna Rennert, Debra GB Leonard and Balraj Mittal

    Citation: BMC Medical Genetics 2005 6:22

    Content type: Research article

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  22. Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniqu...

    Authors: Marie Sogaard, Zeynep Tümer, Helle Hjalgrim, Johanne Hahnemann, Birgitte Friis, Paal Ledaal, Vibeke Faurholt Pedersen, Peter Baekgaard, Niels Tommerup, Sultan Cingöz, Morten Duno and Karen Brondum-Nielsen

    Citation: BMC Medical Genetics 2005 6:21

    Content type: Research article

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  23. PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe heart malformations, including transpositi...

    Authors: Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-Juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship and Gudrun Rappold

    Citation: BMC Medical Genetics 2005 6:20

    Content type: Research article

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  24. Human cytochrome P450 3A enzymes, particularly CYP3A4 and CYP3A5, play an important role in drug metabolism. CYP3A expression exhibits substantial interindividual variation, much of which may result from genet...

    Authors: Adam A Garsa, Howard L McLeod and Sharon Marsh

    Citation: BMC Medical Genetics 2005 6:19

    Content type: Technical advance

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  25. Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deleti...

    Authors: Birgitt Schüle, Mohammed Albalwi, Emma Northrop, David I Francis, Margaret Rowell, Howard R Slater, RJ McKinlay Gardner and Uta Francke

    Citation: BMC Medical Genetics 2005 6:18

    Content type: Research article

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  26. Subarachnoid hemorrhage (SAH) due to ruptured intracranial aneurysms (IAs) occurs in about 20,000 people per year in the U.S. annually and nearly half of the affected persons are dead within the first 30 days....

    Authors: Joseph P Broderick, Laura R Sauerbeck, Tatiana Foroud, John Huston III, Nathan Pankratz, Irene Meissner and Robert D Brown Jr

    Citation: BMC Medical Genetics 2005 6:17

    Content type: Study protocol

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  27. X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The m...

    Authors: Monica L Stepp, A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andrée MacMillan, Jeanette JA Holden, Jozef Gecz, Roger E Stevenson and Charles E Schwartz

    Citation: BMC Medical Genetics 2005 6:16

    Content type: Research article

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  28. Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearra...

    Authors: Dorte Damgaard, Peter H Nissen, Lillian G Jensen, Gitte G Nielsen, Anette Stenderup, Mogens L Larsen and Ole Faergeman

    Citation: BMC Medical Genetics 2005 6:15

    Content type: Technical advance

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  29. Disturbances in serotonin neurotransmission are implicated in the etiology of many psychiatric disorders, including bipolar affective disorder (BPD). The tryptophan hydroxylase gene (TPH), which codes for the enz...

    Authors: Te-Jen Lai, Chia-Yen Wu, Hsu-Wen Tsai, Yi-Mei J Lin and H Sunny Sun

    Citation: BMC Medical Genetics 2005 6:14

    Content type: Research article

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  30. Polymorphism G1465A in the GABBR1 gene has been suggested as a risk factor for non-lesional temporal lobe epilepsy (TLE); however, this genetic association study has not been independently replicated. We attem...

    Authors: Shaochun Ma, Bassel Abou-Khalil, James S Sutcliffe, Jonathan L Haines and Peter Hedera

    Citation: BMC Medical Genetics 2005 6:13

    Content type: Research article

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  31. We studied the molecular basis of NSHL in Republic of Altai (South Siberia, Russia). The Altaians are the indigenous Asian population of the Altai Mountain region considered as a melting-pot and a dispersion c...

    Authors: Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, Ludmila Osipova, Mireille Claustres and Anne-Françoise Roux

    Citation: BMC Medical Genetics 2005 6:12

    Content type: Research article

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  32. 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

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  33. Significant evidence suggests that a promoter polymorphism withinthe gene SLC11A1 is involved in susceptibility to both autoimmune and infectious disorders. The aim of this study was to evaluate whether SLC11A1 h...

    Authors: Nigel PS Crawford, Maurice R Eichenberger, Daniel W Colliver, Robert K Lewis, Gary A Cobbs, Robert E Petras and Susan Galandiuk

    Citation: BMC Medical Genetics 2005 6:10

    Content type: Research article

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  34. Fragility fractures caused by osteoporosis are a major cause of morbidity and mortality in aging populations. Bone mineral density (BMD) is a useful surrogate marker for risk of fracture and is a highly herita...

    Authors: Richard H Reneland, Steven Mah, Stefan Kammerer, Carolyn R Hoyal, George Marnellos, Scott G Wilson, Philip N Sambrook, Tim D Spector, Matthew R Nelson and Andreas Braun

    Citation: BMC Medical Genetics 2005 6:9

    Content type: Research article

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  35. CHARGE syndrome is a complex of birth defects including coloboma, choanal atresia, ear malformations and deafness, cardiac defects, and growth delay. We have previously hypothesized that CHARGE syndrome could ...

    Authors: Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Michael Phillips, Carlos A Bacino, Laura M Molinari, Nancy L Glass, Jeffrey A Towbin, William J Craigen and John W Belmont

    Citation: BMC Medical Genetics 2005 6:8

    Content type: Research article

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  36. Familial hypercholesterolemia is a human monogenic disease caused by population-specific mutations in the low density lipoprotein (LDL) receptor gene. Despite thirteen different mutations of the LDL receptor g...

    Authors: Faina M Zakharova, Dorte Damgaard, Michail Y Mandelshtam, Valery I Golubkov, Peter H Nissen, Gitte G Nilsen, Anette Stenderup, Boris M Lipovetsky, Vladimir O Konstantinov, Alexander D Denisenko, Vadim B Vasilyev and Ole Faergeman

    Citation: BMC Medical Genetics 2005 6:6

    Content type: Research article

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  37. Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene...

    Authors: Joaquim Calado, Augusta Gaspar, Carla Clemente and José Rueff

    Citation: BMC Medical Genetics 2005 6:5

    Content type: Case report

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  38. Rare mutations of the epithelial sodium channel (ENaC) result in the monogenic hypertension form of Liddle's syndrome. We decided to screen for common variants in the ENaC βand γ subunits in patients with esse...

    Authors: Tuula Hannila-Handelberg, Kimmo Kontula, Ilkka Tikkanen, Tuula Tikkanen, Frej Fyhrquist, Karri Helin, Heidi Fodstad, Kirsi Piippo, Helena E Miettinen, Jarmo Virtamo, Tom Krusius, Seppo Sarna, Ivan Gautschi, Laurent Schild and Timo P Hiltunen

    Citation: BMC Medical Genetics 2005 6:4

    Content type: Research article

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  39. Currently, there is no adequate animal model to study the detailed molecular biochemistry of fragile X syndrome, the leading heritable form of mental impairment. In this study, we sought to establish the use o...

    Authors: Philip H Schwartz, Flora Tassone, Claudia M Greco, Hubert E Nethercott, Boback Ziaeian, Randi J Hagerman and Paul J Hagerman

    Citation: BMC Medical Genetics 2005 6:2

    Content type: Technical advance

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  40. Autism is a neurobehavioral spectrum of phenotypes characterized by deficits in the development of language and social relationships and patterns of repetitive, rigid and compulsive behaviors. Twin and family ...

    Authors: Jacob L McCauley, Chun Li, Lan Jiang, Lana M Olson, Genea Crockett, Kimberly Gainer, Susan E Folstein, Jonathan L Haines and James S Sutcliffe

    Citation: BMC Medical Genetics 2005 6:1

    Content type: Research article

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  41. An association has been observed between the catechol-O-methyltransferase (COMT) gene, the predominant means of catecholamine catabolism within the prefrontal cortex (PFC), and neuropsychological task performance...

    Authors: Evan Taerk, Natalie Grizenko, Leila Ben Amor, Philippe Lageix, Valentin Mbekou, Rosherie Deguzman, Adam Torkaman-Zehi, Marina Ter Stepanian, Chantal Baron and Ridha Joober

    Citation: BMC Medical Genetics 2004 5:30

    Content type: Research article

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  42. Homozygosity or compound heterozygosity for coding region mutations of the hemojuvelin gene (HJV) in whites is a cause of early age-of-onset iron overload (juvenile hemochromatosis), and of hemochromatosis phenot...

    Authors: James C Barton, Charles A Rivers, Sandrine Niyongere, Sean B Bohannon and Ronald T Acton

    Citation: BMC Medical Genetics 2004 5:29

    Content type: Research article

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  43. The increasing number of available genotypes for genetic studies in humans requires more advanced techniques of analysis. We previously reported significant univariate associations between gene polymorphisms a...

    Authors: Alessandro Serretti and Enrico Smeraldi

    Citation: BMC Medical Genetics 2004 5:27

    Content type: Research article

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  44. Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. ...

    Authors: Carol J Blaisdell, Timothy D Howard, Augustus Stern, Penelope Bamford, Eugene R Bleecker and O Colin Stine

    Citation: BMC Medical Genetics 2004 5:26

    Content type: Research article

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  45. The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for...

    Authors: Arantza Pacho, Esther Mancebo, Manuel J del Rey, Maria J Castro, Desamparados Oliver, Miguel García-Berciano, Luis González and Pablo Morales

    Citation: BMC Medical Genetics 2004 5:25

    Content type: Research article

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  46. Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In ...

    Authors: Zubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-Lynn Young, Khushnooda Ramzan, Zahoor Ahmad, Sandra Luscombe, Kiran Dhillon, Linda MacLaren, Barbara Ploplis, Lawrence I Shotland, Elizabeth Ives, Sheikh Riazuddin, Thomas B Friedman, Robert J Morell…

    Citation: BMC Medical Genetics 2004 5:24

    Content type: Research article

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  47. The Angiotensin Converting Enzyme (ACE) insertion/deletion (I/D) polymorphism has received much attention in pharmacogenetic research because observed variations in response to ACE inhibitors might be associat...

    Authors: M Scharplatz, MA Puhan, J Steurer and LM Bachmann

    Citation: BMC Medical Genetics 2004 5:23

    Content type: Study protocol

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