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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
  2. Factors governing adipose tissue differentiation play a major role in obesity development in humans. The Krüppel-like zinc finger transcription factor KLF2/Lung KLF (LKLF) is a negative regulator of adipocyte ...

    Authors: Aline Meirhaeghe, Dominique Cottel and Philippe Amouyel
    Citation: BMC Medical Genetics 2006 7:26
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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
  46. 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
  47. 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
  48. 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