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  1. The antizyme family is a group of small proteins that play a role in cell growth and division by regulating the biosynthesis of polyamines (putrescine, spermidine, spermine). Antizymes regulate polyamine level...

    Authors: Greg L Christensen, Ivaylo P Ivanov, Stephen P Wooding, John F Atkins, Anna Mielnik, Peter N Schlegel and Douglas T Carrell

    Citation: BMC Medical Genetics 2006 7:27

    Content type: Research article

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  2. The 1858C/T SNP of the PTPN22 gene has been associated with many autoimmune diseases, suggesting the existence of an inflammatory process common to all of them. We studied the association of that polymorphism wit...

    Authors: Concepción Núñez, Raquel López-Mejías, Alfonso Martínez, M Cruz García-Rodríguez, Miguel Fernández-Arquero, Emilio G de la Concha and Elena Urcelay

    Citation: BMC Medical Genetics 2006 7:25

    Content type: Research article

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  3. Down syndrome (DS) is caused by trisomy 21 (+21), but the aberrations in gene expression resulting from this chromosomal aneuploidy are not yet completely understood.

    Authors: Chi-Ming Li, Meirong Guo, Martha Salas, Nicole Schupf, Wayne Silverman, Warren B Zigman, Sameera Husain, Dorothy Warburton, Harshwardhan Thaker and Benjamin Tycko

    Citation: BMC Medical Genetics 2006 7:24

    Content type: Research article

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  4. The 3398delAAAAG mutation in BRCA2 was recently found to recur in breast and/or ovarian cancer families from the French Canadian population of Quebec, a population that has genetic attributes consistent with a fo...

    Authors: Kathleen K Oros, Guy Leblanc, Suzanna L Arcand, Zhen Shen, Chantal Perret, Anne-Marie Mes-Masson, William D Foulkes, Parviz Ghadirian, Diane Provencher and Patricia N Tonin

    Citation: BMC Medical Genetics 2006 7:23

    Content type: Research article

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  5. In age-matched cohorts of screening study participants recruited from primary care clinics, mean serum transferrin saturation values were significantly lower and mean serum ferritin concentrations were signifi...

    Authors: James C Barton, Ellen H Barton and Ronald T Acton

    Citation: BMC Medical Genetics 2006 7:22

    Content type: Research article

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  6. Wegener granulomatosis (WG) belongs to the heterogeneous group of systemic vasculitides. The multifactorial pathophysiology of WG is supposedly caused by yet unknown environmental influence(s) on the basis of ...

    Authors: Paweł Szyld, Peter Jagiello, Elena Csernok, Wolfgang L Gross and Joerg T Epplen

    Citation: BMC Medical Genetics 2006 7:21

    Content type: Research article

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  7. The identification of the HLA class II, insulin (INS), CTLA-4 and PTPN22 genes as determinants of type 1 diabetes (T1D) susceptibility indicates that fine tuning of the immune system is centrally involved in d...

    Authors: Deborah J Smyth, Joanna MM Howson, Felicity Payne, Lisa M Maier, Rebecca Bailey, Kieran Holland, Christopher E Lowe, Jason D Cooper, John S Hulme, Adrian Vella, Ingrid Dahlman, Alex C Lam, Sarah Nutland, Neil M Walker, Rebecca CJ Twells and John A Todd

    Citation: BMC Medical Genetics 2006 7:20

    Content type: Research article

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  8. Population heterogeneity may be a significant confounding factor hampering detection and verification of late onset Alzheimer's disease (LOAD) susceptibility genes. The Amish communities located in Indiana and...

    Authors: Jacob L McCauley, Daniel W Hahs, Lan Jiang, William K Scott, Kathleen A Welsh-Bohmer, Charles E Jackson, Jeffery M Vance, Margaret A Pericak-Vance and Jonathan L Haines

    Citation: BMC Medical Genetics 2006 7:19

    Content type: Research article

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  9. Chromosome 22q11.2 region is highly susceptible to rearrangement, specifically deletions that give rise to a variety of genomic disorders including velocardiofacial or DiGeorge syndrome. Individuals with this ...

    Authors: Raihan K Uddin, Yang Zhang, Victoria Mok Siu, Yao-Shan Fan, Richard L O'Reilly, Jay Rao and Shiva M Singh

    Citation: BMC Medical Genetics 2006 7:18

    Content type: Research article

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  10. Elevated resting heart rate has been shown in multiple studies to be a strong predictor of cardiovascular disease. Previous family studies have shown a significant heritable component to heart rate with severa...

    Authors: Jason M Laramie, Jemma B Wilk, Steven C Hunt, R Curtis Ellison, Aravinda Chakravarti, Eric Boerwinkle and Richard H Myers

    Citation: BMC Medical Genetics 2006 7:17

    Content type: Research article

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  11. It has been recently demonstrated that CD8+ T-lymphocyte numbers are genetically transmitted in association with the MHC class I region. The present study was designed with the objective of narrowing the regio...

    Authors: Eugénia Cruz, Jorge Vieira, Susana Almeida, Rosa Lacerda, Andrea Gartner, Carla S Cardoso, Helena Alves and Graça Porto

    Citation: BMC Medical Genetics 2006 7:16

    Content type: Research article

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  12. Analysis of the chromosomal background upon which a mutation occurs can be used to reconstruct the origins of specific disease-causing mutations. The relatively common BRCA1 mutation, 1135insA, has been previousl...

    Authors: Teresa M Rudkin, Nancy Hamel, Maria Galvez, Frans Hogervorst, Johan JP Gille, Pål Møller, Jaran Apold and William D Foulkes

    Citation: BMC Medical Genetics 2006 7:15

    Content type: Research article

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  13. 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

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  14. Sitosterolemia is an autosomal recessive disorder that maps to the sitosterolemia locus, STSL, on human chromosome 2p21. Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia....

    Authors: Bhaswati Pandit, Gwang-Sook Ahn, Starr E Hazard, Derek Gordon and Shailendra B Patel

    Citation: BMC Medical Genetics 2006 7:13

    Content type: Research article

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  15. We have previously reported an association between the estrogen receptor 1 (ESR1) gene exon 8 G594A polymorphism and migraine susceptibility in two independent Australian cohorts. In this paper we report resul...

    Authors: Natalie J Colson, Rod A Lea, Sharon Quinlan and Lyn R Griffiths

    Citation: BMC Medical Genetics 2006 7:12

    Content type: Research article

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  16. Since genetic alterations influencing susceptibility to multiple sclerosis (MS), the most common autoimmune demyelinating disease of the central nervous system (CNS), are as yet poorly understood, the purpose ...

    Authors: Silja Särkijärvi, Hanna Kuusisto, Raija Paalavuo, Mari Levula, Nina Airla, Terho Lehtimäki, Jaakko Kaprio, Markku Koskenvuo and Irina Elovaara

    Citation: BMC Medical Genetics 2006 7:11

    Content type: Research article

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  17. The COMT gene is located on chromosome 22q11, a region strongly implicated in the aetiology of several psychiatric disorders, in particular schizophrenia. Previous research has suggested that activity and express...

    Authors: Emma L Dempster, Jonathan Mill, Ian W Craig and David A Collier

    Citation: BMC Medical Genetics 2006 7:10

    Content type: Research article

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  18. Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22. Many of these individuals have co...

    Authors: Seema R Lalani, Trilochan Sahoo, Merideth E Sanders, Sarika U Peters and Bassem A Bejjani

    Citation: BMC Medical Genetics 2006 7:8

    Content type: Case report

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  19. Among the members of the ATP binding cassette transporter superfamily, MRPs share the closest homology with the CFTR protein, which is defective in CF disease. MRP1 has been proposed as a potential modifier gene ...

    Authors: Elena Nicolis, Matteo Pasetto, Cristina Cigana, Ugo Pradal, Baroukh M Assael and Paola Melotti

    Citation: BMC Medical Genetics 2006 7:7

    Content type: Research article

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  20. Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder caused by mutations in at least two different loci. Prior to performing mutation screening, if DNA samples of suffic...

    Authors: Katja Vouk, Lana Strmecki, Jitka Stekrova, Jana Reiterova, Matjaz Bidovec, Petra Hudler, Anton Kenig, Simona Jereb, Irena Zupanic-Pajnic, Joze Balazic, Guido Haarpaintner, Bostjan Leskovar, Anton Adamlje, Antun Skoflic, Reina Dovc, Radovan Hojs…

    Citation: BMC Medical Genetics 2006 7:6

    Content type: Research article

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  21. Hereditary non-polyposis colon cancer (HNPCC) is an autosomal dominant syndrome predisposing to the early development of various cancers including those of colon, rectum, endometrium, ovarium, small bowel, sto...

    Authors: Sergio G Chialina, Claudia Fornes, Carolina Landi, Carlos D de La Vega Elena, Maria V Nicolorich, Ricardo J Dourisboure, Angela Solano and Edita A Solis

    Citation: BMC Medical Genetics 2006 7:5

    Content type: Research article

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  22. Familial partial lipodystrophy (Dunnigan) type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367) results from heterozygous mutations in PPARG encoding peroxisomal proliferator-activated receptor-γ. Both domina...

    Authors: Gordon A Francis, Gang Li, Robin Casey, Jian Wang, Henian Cao, Todd Leff and Robert A Hegele

    Citation: BMC Medical Genetics 2006 7:3

    Content type: Research article

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  23. Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments.

    Authors: Brian P Brooks, Jeanne M Meck, Bassem R Haddad, Claude Bendavid, Delphine Blain and Jeffrey A Toretsky

    Citation: BMC Medical Genetics 2006 7:2

    Content type: Case report

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  24. Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary paraganglioma and pheochromocytoma, and demonstrate that the...

    Authors: Jean-Pierre Bayley, Ivonne van Minderhout, Marjan M Weiss, Jeroen C Jansen, Peter HN Oomen, Fred H Menko, Barbara Pasini, Barbara Ferrando, Nora Wong, Lesley C Alpert, Rosie Williams, Edward Blair, Peter Devilee and Peter EM Taschner

    Citation: BMC Medical Genetics 2006 7:1

    Content type: Research article

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  25. The use of live microorganisms to influence positively the course of intestinal disorders such as infectious diarrhea or chronic inflammatory conditions has recently gained increasing interest as a therapeutic...

    Authors: Sya N Ukena, Astrid M Westendorf, Wiebke Hansen, Manfred Rohde, Robert Geffers, Sina Coldewey, Sebastian Suerbaum, Jan Buer and Florian Gunzer

    Citation: BMC Medical Genetics 2005 6:43

    Content type: Research article

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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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  48. 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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As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.