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  1. Klotho has an important role in insulin signalling and the development of ageing-like phenotypes in mice. The common functional "KL-VS" variant in the KLOTHO (KL) gene is associated with longevity in humans but i...

    Authors: Rachel M Freathy, Michael N Weedon, David Melzer, Beverley Shields, Graham A Hitman, Mark Walker, Mark I McCarthy, Andrew T Hattersley and Timothy M Frayling

    Citation: BMC Medical Genetics 2006 7:51

    Content type: Research article

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  2. Since both excess glucocorticoid secretion and central obesity are clinical features of some obese patients, it is worthwhile to study a possible association of glucocorticoid receptor gene (GRL) variants with ob...

    Authors: Amelia Marti, M Carmen Ochoa, Almudena Sánchez-Villegas, J Alfredo Martínez, Miguel Angel Martínez-González, Johannes Hebebrand, Anke Hinney and Helmut Vedder

    Citation: BMC Medical Genetics 2006 7:50

    Content type: Research article

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  3. Peptidase inhibitor 3 (PI3) inhibits neutrophil elastase and proteinase-3, and has a potential role in skin and lung diseases as well as in cancer. Genome-wide expression profiling of chorioamniotic membranes ...

    Authors: Mahboob A Chowdhury, Helena Kuivaniemi, Roberto Romero, Samuel Edwin, Tinnakorn Chaiworapongsa and Gerard Tromp

    Citation: BMC Medical Genetics 2006 7:49

    Content type: Research article

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  4. Several lines of evidence suggest that chemokines and cytokines play an important role in the inflammatory development and progression of systemic lupus erythematosus. The aim of this study was to evaluate the...

    Authors: Elena Sánchez, José M Sabio, José L Callejas, Enrique de Ramón, Rosa Garcia-Portales, Francisco J García-Hernández, Juan Jiménez-Alonso, Ma Francisca González-Escribano, Javier Martín and Bobby P Koeleman

    Citation: BMC Medical Genetics 2006 7:48

    Content type: Research article

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  5. The genetic mechanisms underlying interindividual blood pressure variation reflect the complex interplay of both genetic and environmental variables. The current standard statistical methods for detecting gene...

    Authors: Júlia M Pavan Soler, Alexandre C Pereira, César H Tôrres and José E Krieger

    Citation: BMC Medical Genetics 2006 7:47

    Content type: Research article

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  6. Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristi...

    Authors: Kendra W Kimberley, Colleen A Morris and Holly H Hobart

    Citation: BMC Medical Genetics 2006 7:46

    Content type: Research article

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  7. Pharmacogenetic studies are essential in understanding the interindividual variability of drug responses. DNA sample collection for genotyping is a critical step in genetic studies. A method using dried blood ...

    Authors: Jose M Vidal-Taboada, Mercedes Cucala, Sergio Mas Herrero, Amalia Lafuente and Albert Cobos

    Citation: BMC Medical Genetics 2006 7:45

    Content type: Research article

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  8. The protein tyrosine phosphatase-1B, a negative regulator for insulin and leptin signalling, potentially modulates glucose and energy homeostasis. PTP1B is encoded by the PTPN1 gene located on chromosome 20q13 sh...

    Authors: Claire Cheyssac, Cécile Lecoeur, Aurélie Dechaume, Amina Bibi, Guillaume Charpentier, Beverley Balkau, Michel Marre, Philippe Froguel, Fernando Gibson and Martine Vaxillaire

    Citation: BMC Medical Genetics 2006 7:44

    Content type: Research article

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  9. Hereditary Hemochromatosis (HH) is an autosomal recessive disorder highlighted byiron-overload. Two popular mutations in HFE, p.C282Y and p.H63D, have been discovered and found to associate with HH in different e...

    Authors: Osama A Alsmadi, Fadi Al-Kayal, Mohamed Al-Hamed and Brian F Meyer

    Citation: BMC Medical Genetics 2006 7:43

    Content type: Research article

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  10. Renal failure in diabetes is mediated by multiple pathways. Experimental and clinical evidences suggest that renin-angiotensin-aldosterone system (RAAS) has a crucial role in diabetic kidney disease. A relatio...

    Authors: Pushplata Prasad, Arun K Tiwari, KM Prasanna Kumar, AC Ammini, Arvind Gupta, Rajeev Gupta, AK Sharma, AR Rao, R Nagendra, T Satish Chandra, SC Tiwari, Priyanka Rastogi, B Lal Gupta and BK Thelma

    Citation: BMC Medical Genetics 2006 7:42

    Content type: Research article

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  11. Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelano...

    Authors: Hélène Mayeur, Olivier Roche, Christelle Vêtu, Carolina Jaliffa, Dominique Marchant, Hélène Dollfus, Dominique Bonneau, Francis L Munier, Daniel F Schorderet, Alex V Levin, Elise Héon, Joanne Sutherland, Didier Lacombe, Edith Said, Eedy Mezer, Josseline Kaplan…

    Citation: BMC Medical Genetics 2006 7:41

    Content type: Research article

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  12. Trachoma, an infectious disease of the conjunctiva caused by Chlamydia trachomatis, is an important global cause of blindness. A dysregulated extracellular matrix (ECM) proteolysis during the processes of tissue ...

    Authors: Angels Natividad, Graham Cooke, Martin J Holland, Matthew J Burton, Hassan M Joof, Kirk Rockett, Dominic P Kwiatkowski, David CW Mabey and Robin L Bailey

    Citation: BMC Medical Genetics 2006 7:40

    Content type: Research article

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  13. Studies investigating the genetic and environmental characteristics of atrial fibrillation (AF) may provide new insights in the complex development of AF. We aimed to investigate the association between severa...

    Authors: Folkert W Asselbergs, Jason H Moore, Maarten P van den Berg, Eric B Rimm, Rudolf A de Boer, Robin P Dullaart, Gerjan Navis and Wiek H van Gilst

    Citation: BMC Medical Genetics 2006 7:39

    Content type: Research article

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  14. The association of the deletion in GSTT1 and GSTM1 genes with coronary artery disease (CAD) among smokers is controversial. In addition, no such investigation has previously been conducted among Arabs.

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

    Citation: BMC Medical Genetics 2006 7:38

    Content type: Research article

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  15. Insulin resistance and glucose dysmetabolism in polycystic ovary syndrome (PCOS) are related with the polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, especially Gly972Arg/Ala...

    Authors: Ta-Chin Lin, Jui-Mei Yen, Kum-Bing Gong, Tsung-Cheng Kuo, Dong-Chi Ku, Shu-Fen Liang and Ming-Jiuan Wu

    Citation: BMC Medical Genetics 2006 7:36

    Content type: Research article

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  16. Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in ...

    Authors: María José Gamundi, Imma Hernan, María Martínez-Gimeno, Miquel Maseras, Blanca García-Sandoval, Carmen Ayuso, Guillermo Antiñolo, Montserrat Baiget and Miguel Carballo

    Citation: BMC Medical Genetics 2006 7:35

    Content type: Research article

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  17. Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme defici...

    Authors: Gregg E Homanics, Kristen Skvorak, Carolyn Ferguson, Simon Watkins and Harbhajan S Paul

    Citation: BMC Medical Genetics 2006 7:33

    Content type: Research article

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  18. Celiac disease (CD) is a chronic disorder characterized by a pathological inflammatory response after exposure to gluten in genetically susceptible individuals. The HLA complex accounts for less than half of t...

    Authors: Concepción Núñez, Diana Alecsandru, Jezabel Varadé, Isabel Polanco, Carlos Maluenda, Miguel Fernández-Arquero, Emilio G de la Concha, Elena Urcelay and Alfonso Martínez

    Citation: BMC Medical Genetics 2006 7:32

    Content type: Research article

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  19. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterized by progressive degeneration of right ventricular myocardium, arrhythmias and an increased risk of sudden death at a ...

    Authors: Luzuko O Matolweni, Soraya Bardien, George Rebello, Ekow Oppon, Miroslav Munclinger, Rajkumar Ramesar, Hugh Watkins and Bongani M Mayosi

    Citation: BMC Medical Genetics 2006 7:29

    Content type: Research article

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  20. Paraoxonase (PON) has anti-atherogenic activity due to its protective function against low density lipoprotein (LDL) oxidation. Alteration of enzyme activity due to polymorphisms in the PON genes may influence th...

    Authors: Alireza Pasdar, Helen Ross-Adams, Alastair Cumming, John Cheung, Lawrence Whalley, David St Clair and Mary-Joan MacLeod

    Citation: BMC Medical Genetics 2006 7:28

    Content type: Research article

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  21. 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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  22. 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

    Content type: Research article

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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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