Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.

abstract：BACKGROUND:Peutz-Jeghers syndrome (PJS) is a rare multi-organ cancer syndrome and understanding its genetic basis may help comprehend the molecular mechanism of familial cancer. A number of germ line mutations in the STK11 gene, encoding a serine threonine kinase have been reported in these patients. However, STK11 mut...

journal_title：BMC medical genetics

authors： Thakur N,Reddy DN,Rao GV,Mohankrishna P,Singh L,Chandak GR

更新日期：2006-09-30 00:00:00

abstract：BACKGROUND:The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor-α (TNF-α) gene polymorphisms and coronary artery disease (CAD) susceptibility. METHODS:Using appropriate keywords, we identified relevant studies using PubMed, Cochrane, Embase, CNKI, VAN...

journal_title：BMC medical genetics

authors： Huang R,Zhao SR,Li Y,Liu F,Gong Y,Xing J,Xu ZS

更新日期：2020-02-11 00:00:00

abstract：BACKGROUND:The variant rs11085226 (G) within the gene encoding polypyrimidine tract binding protein 1 (PTBP1) was reported to associate with reduced insulin release determined by an oral glucose tolerance test (OGTT) as well as an intravenous glucose tolerance test (IVGTT). The aim of the present study was to validate ...

journal_title：BMC medical genetics

authors： Hansen TH,Vestergaard H,Jørgensen T,Jørgensen ME,Lauritzen T,Brandslund I,Christensen C,Pedersen O,Hansen T,Gjesing AP

更新日期：2015-03-20 00:00:00

abstract：BACKGROUND:Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore, the inflammatory and anti-inflammatory cytokines, as well as their respective genes, have been prop...

journal_title：BMC medical genetics

authors： Hanaei S,Abdollahzade S,Sadr M,Mirbolouk MH,Fattahi E,Khoshnevisan A,Rezaei N

更新日期：2020-07-03 00:00:00

abstract：BACKGROUND:Preterm birth (PTB) is a complex disorder associated with significant neonatal mortality and morbidity and long-term adverse health consequences. Multiple lines of evidence suggest that genetic factors play an important role in its etiology. This study was designed to identify genetic variation associated wi...

journal_title：BMC medical genetics

authors： Kim J,Stirling KJ,Cooper ME,Ascoli M,Momany AM,McDonald EL,Ryckman KK,Rhea L,Schaa KL,Cosentino V,Gadow E,Saleme C,Shi M,Hallman M,Plunkett J,Teramo KA,Muglia LJ,Feenstra B,Geller F,Boyd HA,Melbye M,Marazita ML

更新日期：2013-07-26 00:00:00

abstract：BACKGROUND:While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. METHODS:In this study, we report on clinica...

journal_title：BMC medical genetics

authors： Hadj Amor M,Dimassi S,Taj A,Slimani W,Hannachi H,Mlika A,Ben Helel K,Saad A,Mougou-Zerelli S

更新日期：2020-02-06 00:00:00

abstract：BACKGROUND:DJ-1 forms part of the neuronal cellular defence mechanism against oxidative insults, due to its ability to undergo self-oxidation. Oxidative stress has been implicated in the pathogenesis of central nervous system damage in different neurodegenerative disorders including Alzheimer's disease and Parkinson's ...

journal_title：BMC medical genetics

authors： Keyser RJ,van der Merwe L,Venter M,Kinnear C,Warnich L,Carr J,Bardien S

更新日期：2009-10-13 00:00:00

abstract：BACKGROUND:In recent years, genome wide association studies have identified many genetic variants that are consistently associated with common complex diseases, but the amount of heritability explained by these risk alleles is still low. Part of the missing heritability may be due to genetic heterogeneity and small sam...

journal_title：BMC medical genetics

authors： Waltoft BL,Pedersen CB,Nyegaard M,Hobolth A

更新日期：2015-08-30 00:00:00

abstract：BACKGROUND:Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% o...

journal_title：BMC medical genetics

authors： López M,Seidel V,Santibáñez P,Cervera-Acedo C,Castro-de Castro P,Domínguez-Garrido E

更新日期：2016-12-13 00:00:00

abstract：BACKGROUND:Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in various ways, and all modes of inheritance are associated with multiple genes or loci. At present, more...

journal_title：BMC medical genetics

authors： Yu W,Jin H,Deng J,Nan D,Huang Y

更新日期：2020-06-03 00:00:00

abstract：BACKGROUND: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 these genes are classic tumor suppressors. Succinate dehydrogenase is a heterotetrameric protein comple...

journal_title：BMC medical genetics

authors： Bayley JP,van Minderhout I,Weiss MM,Jansen JC,Oomen PH,Menko FH,Pasini B,Ferrando B,Wong N,Alpert LC,Williams R,Blair E,Devilee P,Taschner PE

更新日期：2006-01-11 00:00:00

abstract：BACKGROUND:Tendinopathy pathogenesis is associated with inflammation. Regulatory T (Treg) cells contribute to early tissue repair through an anti-inflammatory action, with the forkhead box P3 (FOXP3) transcription factor being essential for Treg function, and the FC-receptor-like 3 (FCRL3) possibly negatively regulatin...

journal_title：BMC medical genetics

authors： Salles JI,Lopes LR,Duarte MEL,Morrissey D,Martins MB,Machado DE,Guimarães JAM,Perini JA

更新日期：2018-07-18 00:00:00

abstract：BACKGROUND:As cyclin-dependent kinase 5 (CDK5) has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease (AD) brain, and the development of neurofibrillary tangles, we examined the contribution of this gene to the susceptibility for AD. METHODS:We examined genetic variations of CDK5 by gen...

journal_title：BMC medical genetics

authors： Vázquez-Higuera JL,Mateo I,Sánchez-Juan P,Rodríguez-Rodríguez E,Infante J,Berciano J,Combarros O

更新日期：2009-07-17 00:00:00

abstract：BACKGROUND:Proper expression and functioning of transcription factors (TFs) are essential for regulation of different traits and thus could be crucial for the development of complex diseases. Subjects with Down syndrome (DS) have a higher incidence of acute lymphoblastic leukemia (ALL) while solid tumors, like breast c...

journal_title：BMC medical genetics

authors： Chatterjee A,Dutta S,Mukherjee S,Mukherjee N,Dutta A,Mukherjee A,Sinha S,Panda CK,Chaudhuri K,Roy AL,Mukhopadhyay K

更新日期：2013-01-23 00:00:00

abstract：BACKGROUND:Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inac...

journal_title：BMC medical genetics

authors： Makarov R,Steiner B,Gucev Z,Tasic V,Wieacker P,Wieland I

更新日期：2010-06-17 00:00:00

abstract：BACKGROUND:Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION:We report a 30-year-old Chinese female pat...

journal_title：BMC medical genetics

authors： Sheng L,Zhang W,Gu J,Shen K,Luo H,Yang Y

更新日期：2019-02-19 00:00:00

abstract：BACKGROUND:Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years old. Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD. ...

journal_title：BMC medical genetics

authors： Hu Q,Liu J,Wang Y,Wang J,Shi H,Sun Y,Wu X,Yang C,Teng J

更新日期：2017-12-15 00:00:00

abstract：BACKGROUND:Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. It appears both in syndromic as well as non-syndromic forms. In the affected individual...

journal_title：BMC medical genetics

authors： Khan SA,Khan MA,Muhammad N,Bashir H,Khan N,Muhammad N,Yilmaz R,Khan S,Wasif N

更新日期：2020-05-07 00:00:00

abstract：BACKGROUND:Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. METHODOLOGY:In this repo...

journal_title：BMC medical genetics

authors： Santos S,Marques V,Pires M,Silveira L,Oliveira H,Lança V,Brito D,Madeira H,Esteves JF,Freitas A,Carreira IM,Gaspar IM,Monteiro C,Fernandes AR

更新日期：2012-03-19 00:00:00

abstract：BACKGROUND:Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk. Among several commonly studied polymorphisms in IGF1 gene, rs2195239 and rs2162679 attracted many attentions. So we perform a meta-analysis to de...

journal_title：BMC medical genetics

authors： Xu GP,Chen WX,Zhao Q,Zhou H,Chen SZ,Wu LF

更新日期：2019-01-17 00:00:00

abstract：BACKGROUND: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 factors to clustering of leprosy within families is difficult since these persons often share the sam...

journal_title：BMC medical genetics

authors： Bakker MI,May L,Hatta M,Kwenang A,Klatser PR,Oskam L,Houwing-Duistermaat JJ

更新日期：2005-11-24 00:00:00

abstract：BACKGROUND:The lectin-like oxidized LDL receptor LOX-1 (encoded by OLR1) is believed to play a key role in atherogenesis and some reports suggest an association of OLR1 polymorphisms with myocardial infarction (MI). We tested whether single nucleotide polymorphisms (SNPs) in OLR1 are associated with clinically signific...

journal_title：BMC medical genetics

authors： Knowles JW,Assimes TL,Boerwinkle E,Fortmann SP,Go A,Grove ML,Hlatky M,Iribarren C,Li J,Myers R,Risch N,Sidney S,Southwick A,Volcik KA,Quertermous T

更新日期：2008-04-02 00:00:00

abstract：BACKGROUND:Single Nucleotide Polymorphisms (SNPs) identified in Genome Wide Association Studies (GWAS) have generally moderate association with related complex diseases. Accordingly, Multilocus Genetic Risk Scores (MGRSs) have been computed in previous studies in order to assess the cumulative association of multiple S...

journal_title：BMC medical genetics

authors： Ambroise J,Butoescu V,Robert A,Tombal B,Gala JL

更新日期：2015-06-25 00:00:00

abstract：BACKGROUND:Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far. METHODS:Literature-based data mining was conducted to identify genes, molecule, and cell processes linked to both hyperkalemia and ...

journal_title：BMC medical genetics

authors： Meng X,Lu H,Jiang X,Huang B,Wu S,Yu G,Cao H

更新日期：2020-10-22 00:00:00

abstract：BACKGROUND:Schizophrenia is a highly heritable complex psychiatric disorder with an underlying pathophysiology that is still not well understood. Metaanalyses of schizophrenia linkage studies indicate numerous but rather large disease-associated genomic regions, whereas accumulating gene- and protein expression studies...

journal_title：BMC medical genetics

authors： Olsen L,Hansen T,Jakobsen KD,Djurovic S,Melle I,Agartz I,Hall H,Ullum H,Timm S,Wang AG,Jönsson EG,Andreassen OA,Werge T

更新日期：2008-05-06 00:00:00

abstract：BACKGROUND:Probably the best example of the rise and maintenance of balancing selection as an evolutionary trend is the role of S-haemoglobin (HbS - rs334) in protecting from malaria. Yet, the dynamics of such a process remains poorly understood, particularly in relation to different malaria transmission rates and the ...

journal_title：BMC medical genetics

authors： Salih NA,Hussain AA,Almugtaba IA,Elzein AM,Elhassan IM,Khalil EA,Ishag HB,Mohammed HS,Kwiatkowski D,Ibrahim ME

更新日期：2010-02-03 00:00:00

abstract：BACKGROUND:Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome ...

journal_title：BMC medical genetics

authors： Li JL,Hayden MR,Warby SC,Durr A,Morrison PJ,Nance M,Ross CA,Margolis RL,Rosenblatt A,Squitieri F,Frati L,Gómez-Tortosa E,García CA,Suchowersky O,Klimek ML,Trent RJ,McCusker E,Novelletto A,Frontali M,Paulsen JS,Jon

更新日期：2006-08-17 00:00:00

abstract：BACKGROUND: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 carpal and tarsal bones 1. Heterozygous LEMD3 gene mutations were shown to be the primary cause of th...

journal_title：BMC medical genetics

authors： Baasanjav S,Jamsheer A,Kolanczyk M,Horn D,Latos T,Hoffmann K,Latos-Bielenska A,Mundlos S

更新日期：2010-07-09 00:00:00

abstract：BACKGROUND:The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocyto...

journal_title：BMC medical genetics

authors： Bayley JP,Oldenburg RA,Nuk J,Hoekstra AS,van der Meer CA,Korpershoek E,McGillivray B,Corssmit EP,Dinjens WN,de Krijger RR,Devilee P,Jansen JC,Hes FJ

更新日期：2014-10-10 00:00:00

abstract：BACKGROUND:Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa. We investigated the association between polymorphism of the Transforming growth factor-β1 (TGF-β1) ...

journal_title：BMC medical genetics

authors： Khaali W,Moumad K,Ben Driss EK,Benider A,Ben Ayoub W,Hamdi-Cherif M,Boualga K,Hassen E,Corbex M,Khyatti M

更新日期：2016-10-12 00:00:00