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About 32,540 results

Mycobacterium bovis in Burkina Faso: epidemiologic and genetic links between human and ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183478
PLoS Neglected Tropical Diseases; Sanou A, Tarnagda Z et. al.

Oct 2nd, 2014 - In sub-Saharan Africa, bovine tuberculosis (bTB) is a potential hazard for animals and humans health. The goal of this study was to improve our understanding of bTB epidemiology in Burkina Faso and especially Mycobacterium bovis transmission within and between the bovine and human populations. Twenty six M. bovis strains were isolated from 101 cattle carcasses with suspected bTB lesions during ...

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the ...
https://doi.org/10.1016/S1474-4422(11)70261-7
The Lancet. Neurology; Gijselinck I, Van Langenhove T et. al.

Dec 13th, 2011 - Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are extremes of a clinically, pathologically, and genetically overlapping disease spectrum. A locus on chromosome 9p21 has been associated with both disorders, and we aimed to identify the causal gene within this region. We studied 305 patients with FTLD, 137 with ALS, and 23 with concomitant FTLD and ALS (FTLD-ALS...

von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors.
https://doi.org/10.1097/GIM.0b013e31822beab1
Genetics in Medicine : Official Journal of the American C... Poulsen ML, Gimsing S et. al.

Sep 13th, 2011 - : Up to 16% of patients with the hereditary von Hippel-Lindau disease develop endolymphatic sac tumors of the inner ear. Early diagnosis and treatment of endolymphatic sac tumors can prevent audiovestibular morbidity, but optimal endolymphatic sac tumor surveillance strategy has yet to be determined. We aimed to evaluate endolymphatic sac tumor surveillance to determine the best surveillance st...

IL-12 RB1 genetic variants contribute to human susceptibility to severe acute respirato...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2367437
PloS One; Tang F, Liu W et. al.

May 14th, 2008 - Cytokines play important roles in antiviral action. We examined whether polymorphisms of interleukin (IL)-12 receptor B1 (IL-12RB1) affect the susceptibility to and outcome of severe acute respiratory syndrome (SARS). A case-control study was carried out in Chinese SARS patients and healthy controls. The genotypes of 4SNPs on IL-12 RB1 gene, +705A/G,+1158T/C, +1196G/C and +1664 C/T, were determ...

Mycobacterial genotypes are associated with clinical manifestation and progression of l...
https://doi.org/10.1093/cid/cit172
Clinical Infectious Diseases : an Official Publication Of... Shin SJ, Choi GE et. al.

Mar 20th, 2013 - Mycobacterium abscessus and Mycobacterium massiliense, which cause lung disease, are variable in their clinical manifestation and progression. We hypothesized that mycobacterial genotypes represent their pathogenic phenotypes, which would result in particular genotypes being associated with disease progression. Variable number tandem repeat (VNTR) loci were selected to establish a genotype assa...

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
https://doi.org/10.1038/ng.2599
Nature Genetics; Dibbens LM, de Vries B et. al.

Apr 1st, 2013 - The majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often arise from structural brain lesions, many affected individuals have normal brain imaging. The etiology is unknown in the majority of individuals, although genetic factors are increasingly recognized. Autosomal dominant familial focal epilepsy with variable foci (FFEVF) ...

Rapid diagnosis of drug resistance to fluoroquinolones, amikacin, capreomycin, kanamyci...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3562191
PloS One; Feng Y, Liu S et. al.

Feb 5th, 2013 - There are urgent needs for rapid and accurate drug susceptibility testing of M. tuberculosis. GenoType MTBDRsl is a new molecular kit designed for rapid identification of the resistance to the second-line antituberculosis drugs with a single strip. In recent years, it has been evaluated in many settings, but with varied results. The aim of this meta-analysis was to synthesize the latest data on...

Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3320515
Nature Wang K, Diskin SJ et. al.

Dec 2nd, 2010 - Neuroblastoma is a childhood cancer of the sympathetic nervous system that accounts for approximately 10% of all paediatric oncology deaths. To identify genetic risk factors for neuroblastoma, we performed a genome-wide association study (GWAS) on 2,251 patients and 6,097 control subjects of European ancestry from four case series. Here we report a significant association within LIM domain only...

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759321
Gastroenterology Senter L, Clendenning M et. al.

Jul 7th, 2008 - Although the clinical phenotype of Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) has been well described, little is known about disease in PMS2 mutation carriers. Now that mutation detection methods can discern mutations in PMS2 from mutations in its pseudogenes, more mutation carriers have been identified. Information about the clinical significance of PMS2 mutations...

Association between single nucleotide polymorphisms in the XRCC1 and RAD51 genes and cl...
https://doi.org/10.1016/j.radonc.2011.05.062
Radiotherapy and Oncology : Journal of the European Socie... Pratesi N, Mangoni M et. al.

Jun 27th, 2011 - Individual variability in radiosensitivity is large in cancer patients. Single nucleotide polymorphisms (SNPs) in genes involved in DNA repair and in protection against reactive oxygen species (ROS) could be responsible for such cases of radiosensitivity. We investigated the association between the occurrence of acute reactions in 101 patients with squamous cell carcinoma of the head and neck (...

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study G...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040906
Haematologica De Rocco D, Bottega R et. al.

Mar 3rd, 2014 - Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of Fanconi anemia is relatively complex for several aspects including genetic heterogeneity with mutations in at least 16 different genes. In this paper, we report the mutations identified in 100 unrelated proband...

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for...
https://doi.org/10.1111/j.1399-0004.2012.01896.x
Clinical Genetics; Sánchez-Ferrero E, Coto E et. al.

May 10th, 2012 - Mutations in the SPG7 gene were initially reported in patients with autosomal recessive hereditary spastic paraplegia (HSP). Recent works suggested a dominant effect for some SPG7 mutations. To characterize the SPG7 mutational spectrum in a large cohort of Spanish HSP patients, we sequenced the whole SPG7 gene in a total of 285 Spastic Paraplegia patients. Large gene rearrangements were also as...

Progression of selective IgA deficiency to common variable immunodeficiency.
https://doi.org/10.1159/000135694
International Archives of Allergy and Immunology; Aghamohammadi A, Mohammadi J et. al.

Jun 3rd, 2008 - Selective IgA deficiency (IgAD) is the most common primary immunodeficiency in Caucasians. Although it is often asymptomatic, selected patients show an increased frequency of infections, allergies and autoimmune manifestations. Common variable immunodeficiency (CVID) is a primary antibody deficiency disease that shares many clinical features with IgAD. A common genetic basis for IgAD and CVID h...

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential t...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398434
Neurology Thier S, Lorenz D et. al.

Jul 5th, 2012 - Sporadic, genetically complex essential tremor (ET) is one of the most common movement disorders and may lead to severe impairment of the quality of life. Despite high heritability, the genetic determinants of ET are largely unknown. We performed the second genome-wide association study (GWAS) for ET to elucidate genetic risk factors of ET. Using the Affymetrix Genome-Wide SNP Array 6.0 (1000K)...

A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expres...
https://doi.org/10.1530/EJE-15-0149
European Journal of Endocrinology; Madeira JL, Jorge AA et. al.

Jun 2nd, 2016 - Mutations in the GH1 promoter are a rare cause of isolated growth hormone deficiency (IGHD). To identify the molecular aetiology of a family with IGHD. DNA sequencing, electromobility shift (EMSA) and luciferase reporter assays. University Hospital. Three siblings (2M) born to consanguineous parents presented with IGHD with normal pituitary on MRI. The GH1 proximal promoter, locus control regio...

A New Clade of African Body and Head Lice Infected by Bartonella quintana and Yersinia ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703253
The American Journal of Tropical Medicine and Hygiene; Drali R, Shako JC et. al.

Sep 23rd, 2015 - The human body louse is known as a vector for the transmission of three serious diseases-specifically, epidemic typhus, trench fever, and relapsing fever caused by Rickettsia prowazekii, Bartonella quintana, and Borrelia recurrentis, respectively-that have killed millions of people. It is also suspected in the transmission of a fourth pathogen, Yersinia pestis, which is the etiologic agent of p...

Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leuk...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4039076
Nature Genetics; Perez-Andreu V, Roberts KG et. al.

Oct 21st, 2013 - Recent genomic profiling of childhood acute lymphoblastic leukemia (ALL) identified a high-risk subtype with an expression signature resembling that of Philadelphia chromosome-positive ALL and poor prognosis (Ph-like ALL). However, the role of inherited genetic variation in Ph-like ALL pathogenesis remains unknown. In a genome-wide association study (GWAS) of 511 ALL cases and 6,661 non-ALL con...

Genome-wide association analysis of eosinophilic esophagitis provides insight into the ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121957
Nature Genetics; Kottyan LC, Davis BP et. al.

Jul 15th, 2014 - Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder associated with allergic hypersensitivity to food. We interrogated >1.5 million genetic variants in EoE cases of European ancestry and subsequently in a multi-site cohort with local and out-of-study control subjects. In addition to replicating association of the 5q22 locus (meta-analysis P=1.9×10(-16)), we identified an associati...

Red Blood Cell Antigen Genotyping for Sickle Cell Disease, Thalassemia, and Other Trans...
https://doi.org/10.1016/j.tmrv.2016.05.011
Transfusion Medicine Reviews; Fasano RM, Chou ST

Jun 27th, 2016 - Since the discovery of the ABO blood group in the early 20th century, more than 300 blood group antigens have been categorized among 35 blood group systems. The molecular basis for most blood group antigens has been determined and demonstrates tremendous genetic diversity, particularly in the ABO and Rh systems. Several blood group genotyping assays have been developed, and 1 platform has been ...

Oncogenic mutations of ALK kinase in neuroblastoma.
https://doi.org/10.1038/nature07399
Nature Chen Y, Takita J et. al.

Oct 16th, 2008 - Neuroblastoma in advanced stages is one of the most intractable paediatric cancers, even with recent therapeutic advances. Neuroblastoma harbours a variety of genetic changes, including a high frequency of MYCN amplification, loss of heterozygosity at 1p36 and 11q, and gain of genetic material from 17q, all of which have been implicated in the pathogenesis of neuroblastoma. However, the scarcit...