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Page 12 of 43

  1. Mental deficiency has been linked to abnormalities in cortical neuronal network connectivity and plasticity. These mechanisms are in part under the control of two interacting signalling pathways, the serotoner...

    Authors: Refaat Tabagh, Christian R Andres, Sylviane Védrine, Catherine Cherpi-Antar, Rose-Anne Thepault, Laurence Mignon, Diane Dufour-Rainfray, Claude Moraine and Patrick Vourc'h

    Citation: BMC Medical Genetics 2010 11:30

    Content type: Research article

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  2. Currently, the TNM classification of malignant tumours based on clinicopathological staging remains the standard for colorectal cancer (CRC) prognostication. Recently, we identified the mitochondrial oxidative...

    Authors: Jesus Lascorz, Melanie Bevier, Witigo V Schönfels, Holger Kalthoff, Heiko Aselmann, Jan Beckmann, Jan Egberts, Stephan Buch, Thomas Becker, Stefan Schreiber, Jochen Hampe, Kari Hemminki, Asta Försti and Clemens Schafmayer

    Citation: BMC Medical Genetics 2012 13:31

    Content type: Research article

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  3. The role of the innate immune protein mannose-binding lectin (MBL) in host defence against severe respiratory infection remains controversial. Thoracic empyema is a suppurative lung infection that arises as a ...

    Authors: Stephen J Chapman, Fredrik O Vannberg, Chiea C Khor, Anna Rautanen, Nicholas A Maskell, Christopher WH Davies, Catrin E Moore, Nicholas P Day, Derrick W Crook, Robert JO Davies and Adrian VS Hill

    Citation: BMC Medical Genetics 2010 11:5

    Content type: Research article

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  4. α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the i...

    Authors: Sara Missaglia, Eugenia Ribeiro Valadares, Laura Moro, Eleonora Druve Tavares Faguntes, Raquel quintão Roque, Bruno Giardina and Daniela Tavian

    Citation: BMC Medical Genetics 2014 15:32

    Content type: Case report

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  5. To contribute further to the classification of three CFTR amino acid changes (p.I148T, p.R74W and p.D1270N) either as CF or CBAVD-causing mutations or as neutral variations.

    Authors: Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard, Carine Templin, Françoise Chevalier-Porst and Marie Des Georges

    Citation: BMC Medical Genetics 2004 5:19

    Content type: Research article

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  6. 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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  7. The PCK1 gene, encoding cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C), has previously been implicated as a candidate gene for type 2 diabetes (T2D) susceptibility. Rodent models demonstrate that over-expr...

    Authors: Simon D Rees, Abigail C Britten, Srikanth Bellary, J Paul O'Hare, Sudhesh Kumar, Anthony H Barnett and M Ann Kelly

    Citation: BMC Medical Genetics 2009 10:83

    Content type: Research article

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  8. XPC is involved in the nucleotide excision repair of DNA damaged by carcinogens known to cause bladder cancer. Individuals homozygous for the variant allele of XPC c.1496C > T (p.Ala499Val) were shown in a large...

    Authors: Boling Qiao, Gina B Scott, Faye Elliott, Laurence Vaslin, Johanne Bentley, Janet Hall, D Timothy Bishop, Margaret A Knowles and Anne E Kiltie

    Citation: BMC Medical Genetics 2011 12:84

    Content type: Research article

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  9. Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. He...

    Authors: Priya Landa, Ann-Marie Differ, Kaukab Rajput, Lucy Jenkins and Maria Bitner-Glindzicz

    Citation: BMC Medical Genetics 2013 14:85

    Content type: Research article

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  10. The expanded CAG repeat in the Huntington's disease (HD) gene may display tissue-specific variability (e.g. triplet mosaicism) in repeat length, the longest mutations involving mitotic (germ and glial cells) a...

    Authors: Milena Cannella, Vittorio Maglione, Tiziana Martino, Giuseppe Ragona, Luigi Frati, Guo-Min Li and Ferdinando Squitieri

    Citation: BMC Medical Genetics 2009 10:11

    Content type: Research article

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  11. Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS pati...

    Authors: Adela Castillejo, Carla Guarinos, Ana Martinez-Canto, Victor-Manuel Barbera, Cecilia Egoavil, Maria-Isabel Castillejo, Lucia Perez-Carbonell, Ana-Beatriz Sanchez-Heras, Angel Segura, Enrique Ochoa, Rafael Lazaro, Clara Ruiz-Ponte, Luis Bujanda, Montserrat Andreu, Antoni Castells, Angel Carracedo…

    Citation: BMC Medical Genetics 2011 12:12

    Content type: Research article

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  12. A partial duplication of the distal long arm of chromosome 5 (5q35-- > qter) is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder main...

    Authors: Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak and Anna Latos-Bieleńska

    Citation: BMC Medical Genetics 2013 14:13

    Content type: Case report

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  13. Technological leaps in genome sequencing have resulted in a surge in discovery of human disease genes. These discoveries have led to increased clarity on the molecular pathology of disease and have also demons...

    Authors: Marlena Duda, Tristan Nelson and Dennis P Wall

    Citation: BMC Medical Genetics 2012 13:114

    Content type: Research article

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  14. Type II syndactyly or synpolydactyly (SPD) is clinically very heterogeneous, and genetically three distinct SPD conditions are known and have been designated as SPD1, SPD2 and SPD3, respectively. SPD1 type is ...

    Authors: Sajid Malik, KM Girisha, Muhammad Wajid, Akhilesh K Roy, Shubha R Phadke, Sayedul Haque, Wasim Ahmad, Manuela C Koch and Karl-Heinz Grzeschik

    Citation: BMC Medical Genetics 2007 8:78

    Content type: Research article

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  15. Autism is a highly heritable complex neurodevelopmental disorder, therefore identifying its genetic basis has been challenging. To date, numerous susceptibility genes and chromosomal abnormalities have been re...

    Authors: Gregory Matuszek and Zohreh Talebizadeh

    Citation: BMC Medical Genetics 2009 10:102

    Content type: Database

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  16. Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study ...

    Authors: Shaohua Tang, Qiyu Xu, Xueqin Xu, Jicheng Du, Xuemei Yang, Yusheng Jiang, Xiaoqin Wang, Nancy Speck and Taosheng Huang

    Citation: BMC Medical Genetics 2007 8:82

    Content type: Research article

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  17. Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized by blistering of the skin following a minimal friction or mec...

    Authors: Natividad Cuadrado-Corrales, Carolina Sánchez-Jimeno, Marta García, María-José Escámez, Nuria Illera, Ángela Hernández-Martín, María-José Trujillo-Tiebas, Carmen Ayuso and Marcela Del Rio

    Citation: BMC Medical Genetics 2010 11:139

    Content type: Research article

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  18. There is a substantial genetic component for birthweight variation, and although there are known associations between fetal genotype and birthweight, the role of common epigenetic variation in influencing the ...

    Authors: Rinki Murphy, John MD Thompson, Jörg Tost and Edwin A Mitchell

    Citation: BMC Medical Genetics 2014 15:67

    Content type: Research article

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  19. Thoracic aortic aneurysms and dissections (TAAD) is a critical condition that often goes undiagnosed with fatal consequences. While majority of the cases are sporadic, more than 20% are inherited as a single g...

    Authors: Ali R Keramati, Anita Sadeghpour, Maryam M Farahani, Gurangad Chandok and Arya Mani

    Citation: BMC Medical Genetics 2010 11:143

    Content type: Research article

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  20. Exome sequencing has become more and more affordable and the technique has emerged as an important diagnostic tool for monogenic disorders at early stages of investigations, in particular when clinical informa...

    Authors: Jens Schuster, Tahir Naeem Khan, Muhammad Tariq, Pakeeza Arzoo Shaiq, Katrin Mäbert, Shahid Mahmood Baig and Joakim Klar

    Citation: BMC Medical Genetics 2014 15:71

    Content type: Research article

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  21. Although polymorphisms of PRNP, the gene encoding prion protein, are known as a determinant affecting prion disease susceptibility, other genes also influence prion incubation time. This finding offers the opport...

    Authors: Jisuk Yun, Hyoung-Tae Jin, Yun-Jung Lee, Eun-Kyoung Choi, Richard I Carp, Byung-Hoon Jeong and Yong-Sun Kim

    Citation: BMC Medical Genetics 2011 12:108

    Content type: Research article

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  22. COL11A1 is a large complex gene around 250 kb in length and consisting of 68 exons. Pathogenic mutations in the gene can result in Stickler syndrome, Marshall syndrome or Fibrochondrogenesis. Many of the mutatio...

    Authors: Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, Alan Donaldson, Teresa Lourenco, Marcia Rodrigues, Vivienne McConnell, Gregory Fincham, Martin Snead and Allan Richards

    Citation: BMC Medical Genetics 2013 14:48

    Content type: Case report

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  23. Recently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the f...

    Authors: María Carmen Cénit, Ana Márquez, Miguel Cordero-Coma, Alejandro Fonollosa, Alfredo Adán, Agustín Martínez-Berriotxoa, Victor Llorenç, David Díaz Valle, Ricardo Blanco, Joaquín Cañal, Manuel Díaz-Llopis, José Luis García Serrano, Enrique de Ramón, María José del Rio, Marina Begoña Gorroño- Echebarría, José Manuel Martín-Villa…

    Citation: BMC Medical Genetics 2013 14:52

    Content type: Research article

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  24. Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is...

    Authors: Tanya M Bardakjian, Adele S Schneider, David Ng, Jennifer J Johnston and Leslie G Biesecker

    Citation: BMC Medical Genetics 2009 10:137

    Content type: Case report

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  25. Single-nucleotide polymorphisms (SNPs) are considered to be useful polymorphic markers for genetic studies of polygenic traits. Single-stranded conformational polymorphism (SSCP) analysis has been widely appli...

    Authors: Teruaki Tozaki, Nam-Ho Choi-Miura, Matsuo Taniyama, Masahiko Kurosawa and Motowo Tomita

    Citation: BMC Medical Genetics 2002 3:6

    Content type: Research article

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  26. Although plasma fibrinogen levels are related to cardiovascular risk, data regarding the role of fibrinogen genetic variation in myocardial infarction (MI) or coronary artery disease (CAD) etiology remain inco...

    Authors: Eirini V Theodoraki, Tiit Nikopensius, Julia Suhorutšenko, Vassileios Peppes, Panagiota Fili, Genovefa Kolovou, Vassileios Papamikos, Dimitrios Richter, Nikolaos Zakopoulos, Kaarel Krjutškov, Andres Metspalu and George V Dedoussis

    Citation: BMC Medical Genetics 2010 11:28

    Content type: Research article

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  27. Polymorphisms within the MTHFD1L gene were previously associated with risk of neural tube defects in Ireland. We sought to test the most significant MTHFD1L polymorphisms for an association with risk of cleft in ...

    Authors: Stefano Minguzzi, Anne M Molloy, Kirke Peadar, James Mills, John M Scott, James Troendle, Faith Pangilinan, Lawrence Brody and Anne Parle-McDermott

    Citation: BMC Medical Genetics 2012 13:29

    Content type: Technical advance

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  28. Interleukin (IL)-1β is a potent proinflammatory cytokine markedly overexpressed in the brains of patients with Alzheimer's disease (AD), and also involved in development of atherosclerosis and coronary artery ...

    Authors: José Luis Vázquez-Higuera, Eloy Rodríguez-Rodríguez, Pascual Sánchez-Juan, Ignacio Mateo, Ana Pozueta, Ana Martínez-García, Ana Frank, Fernando Valdivieso, José Berciano, María J Bullido and Onofre Combarros

    Citation: BMC Medical Genetics 2010 11:32

    Content type: Research article

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  29. Immunoglobulin A nephropathy (IgAN), an immune-complex-mediated glomerulonephritis defined immunohistologically by the presence of glomerular IgA deposits, is the most common primary glomerular disease worldwi...

    Authors: Yang Jiyun, Li Guisen, Zhu Li, Shi Yi, Lv Jicheng, Lu Fang, Liu Xiaoqi, Ma Shi, Jing Cheng, Lin Ying, Wang Haiyan, Wang Li, Zhang Hong and Yang Zhenglin

    Citation: BMC Medical Genetics 2012 13:33

    Content type: Research article

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  30. The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have docu...

    Authors: Haihua Bai, Xukui Yang, Temuribagen, Guilan, Suyalatu, Narisu Narisu, Huiguang Wu, Yujie Chen, Yangjian Liu and Qizhu Wu

    Citation: BMC Medical Genetics 2014 15:34

    Content type: Research article

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  31. Several studies in multiple ethnicities have reported linkage to type 2 diabetes on chromosome 1q21-25. Both PKLR encoding the liver pyruvate kinase and NOS1AP encoding the nitric oxide synthase 1 (neuronal) adap...

    Authors: Camilla Helene Andreasen, Mette Sloth Mogensen, Knut Borch-Johnsen, Annelli Sandbæk, Torsten Lauritzen, Katrine Almind, Lars Hansen, Torben Jørgensen, Oluf Pedersen and Torben Hansen

    Citation: BMC Medical Genetics 2008 9:118

    Content type: Research article

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  32. Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the c...

    Authors: Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska and Stefan Mundlos

    Citation: BMC Medical Genetics 2010 11:110

    Content type: Research article

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  33. Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have...

    Authors: Naheed Sajjad, Ingrid Goebel, Naseebullah Kakar, Abdul Majeed Cheema, Christian Kubisch and Jamil Ahmad

    Citation: BMC Medical Genetics 2008 9:99

    Content type: Research article

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  34. The SOD2 gene encodes an antioxidant enzyme, mitochondrial superoxide dismutase. SOD2 polymorphisms are of interest because of their potential roles in the modulation of free radical-mediated macromolecular damag...

    Authors: Jing Shao, Lishan Chen, Brian Marrs, Lin Lee, Hai Huang, Kenneth G Manton, George M Martin and Junko Oshima

    Citation: BMC Medical Genetics 2007 8:7

    Content type: Research article

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  35. Mutations in the high penetrance breast and ovarian cancer susceptibility gene BRCA1 account for a significant percentage of hereditary breast and ovarian cancer cases. Genotype-phenotype correlations of BRCA1 mu...

    Authors: Grigorijs Plakhins, Arvids Irmejs, Andris Gardovskis, Signe Subatniece, Santa Rozite, Marianna Bitina, Guntars Keire, Gunta Purkalne, Uldis Teibe, Genadijs Trofimovics, Edvins Miklasevics and Janis Gardovskis

    Citation: BMC Medical Genetics 2011 12:147

    Content type: Research article

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  36. 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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  37. 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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  38. Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK...

    Authors: Esther Sarasola, Jose A Rodríguez, Elisa Garrote, Javier Arístegui and Maria J García-Barcina

    Citation: BMC Medical Genetics 2011 12:86

    Content type: Case report

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  39. Although vitamin D receptor (VDR) polymorphisms have been shown to be associated with abnormal glucose metabolism, the reported polymorphisms are unlikely to have any biological consequences. The VDR gene has ...

    Authors: Ken C Chiu, Lee-Ming Chuang and Carol Yoon

    Citation: BMC Medical Genetics 2001 2:2

    Content type: Research article

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  40. APOA2 is a positional and biological candidate gene for type 2 diabetes at the chromosome 1q21-q24 susceptibility locus. The aim of this study was to examine if HapMap phase II tag SNPs in APOA2 are associated w...

    Authors: Konsta Duesing, Guillaume Charpentier, Michel Marre, Jean Tichet, Serge Hercberg, Beverley Balkau, Philippe Froguel and Fernando Gibson

    Citation: BMC Medical Genetics 2009 10:13

    Content type: Research article

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  41. Variant Creutzfeldt-Jakob disease (vCJD) originally resulted from the consumption of foodstuffs contaminated by bovine spongiform encephalopathy (BSE) material, with 163 confirmed cases in the UK to date. Many...

    Authors: Matthew T Bishop, Gabor G Kovacs, Pascual Sanchez-Juan and Richard SG Knight

    Citation: BMC Medical Genetics 2008 9:31

    Content type: Research article

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  42. Variant Creutzfeldt-Jakob disease is an infectious, neurodegenerative, protein-misfolding disease, of the prion disease family, originally acquired through ingestion of meat products contaminated with bovine s...

    Authors: Matthew T Bishop, Pascual Sanchez-Juan and Richard SG Knight

    Citation: BMC Medical Genetics 2013 14:91

    Content type: Research article

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  43. Graves disease (GD) is an organ-specific autoimmune disease characterized by hyperthyroidism, diffuse goiter, autoantibodies against thyroid-specific antigens, and dermopathy. Studies of GD have demonstrated t...

    Authors: Kun-Hsi Tsai, Fuu-Jen Tsai, Hui-Ju Lin, Hung-Jung Lin, Yu-Huei Liu, Wen-Ling Liao and Lei Wan

    Citation: BMC Medical Genetics 2012 13:116

    Content type: Research article

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  44. Anonychia/hyponychia congenita is a rare autosomal recessive developmental disorder characterized by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails frequently caused by mutations...

    Authors: Tahir Naeem Khan, Joakim Klar, Sadia Nawaz, Muhammad Jameel, Muhammad Tariq, Naveed Altaf Malik, Shahid M Baig and Niklas Dahl

    Citation: BMC Medical Genetics 2012 13:120

    Content type: Research article

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  45. 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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  46. Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first po...

    Authors: Hiart Maortua, Cristina Martínez-Bouzas, María-Teresa Calvo, Maria-Rosario Domingo, Feliciano Ramos, Ainhoa García-Ribes, María-Jesús Martínez, María-Asunción López-Aríztegui, Nerea Puente, Izaskun Rubio and María-Isabel Tejada

    Citation: BMC Medical Genetics 2012 13:68

    Content type: Research article

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  47. 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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  48. Hirschsprung disease is characterized by the absence of intramural ganglion cells in the enteric plexuses, due to a fail during enteric nervous system formation. Hirschsprung has a complex genetic aetiology an...

    Authors: Avencia Sánchez-Mejías, Rocio Núñez-Torres, Raquel M Fernández, Guillermo Antiñolo and Salud Borrego

    Citation: BMC Medical Genetics 2010 11:71

    Content type: Research article

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