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About 383,144 results

Actionable diagnosis of neuroleptospirosis by next-generation sequencing.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134948
The New England Journal of Medicine; Wilson MR, Naccache SN et. al.

Jun 4th, 2014 - A 14-year-old boy with severe combined immunodeficiency presented three times to a medical facility over a period of 4 months with fever and headache that progressed to hydrocephalus and status epilepticus necessitating a medically induced coma. Diagnostic workup including brain biopsy was unrevealing. Unbiased next-generation sequencing of the cerebrospinal fluid identified 475 of 3,063,784 se...

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
https://doi.org/10.1056/NEJMoa1307362
The New England Journal of Medicine; Navon Elkan P, Pierce SB et. al.

Feb 20th, 2014 - Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that is poorly understood. We identified six families with multiple cases of systemic and cutaneous polyarteritis nodosa, consistent with autosomal recessive inheritance. In most cases, onset of the disease occurred during childhood. We carried out exome sequencing in persons from multiply affected families of Georgia...

Spread of artemisinin resistance in Plasmodium falciparum malaria.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143591
The New England Journal of Medicine; Ashley EA, Dhorda M et. al.

Jul 30th, 2014 - Artemisinin resistance in Plasmodium falciparum has emerged in Southeast Asia and now poses a threat to the control and elimination of malaria. Mapping the geographic extent of resistance is essential for planning containment and elimination strategies. Between May 2011 and April 2013, we enrolled 1241 adults and children with acute, uncomplicated falciparum malaria in an open-label trial at 15...

Two clinical phenotypes in polycythemia vera.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211877
The New England Journal of Medicine; Spivak JL, Considine M et. al.

Aug 27th, 2014 - Polycythemia vera is the ultimate phenotypic consequence of the V617F mutation in Janus kinase 2 (encoded by JAK2), but the extent to which this mutation influences the behavior of the involved CD34+ hematopoietic stem cells is unknown. We analyzed gene expression in CD34+ peripheral-blood cells from 19 patients with polycythemia vera, using oligonucleotide microarray technology after correctin...

Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191900
The New England Journal of Medicine; Roberts KG, Li Y et. al.

Sep 10th, 2014 - Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) is characterized by a gene-expression profile similar to that of BCR-ABL1-positive ALL, alterations of lymphoid transcription factor genes, and a poor outcome. The frequency and spectrum of genetic alterations in Ph-like ALL and its responsiveness to tyrosine kinase inhibition are undefined, especially in adolescents and ad...

Genetic variants associated with phenytoin-related severe cutaneous adverse reactions.
https://doi.org/10.1001/jama.2014.7859
JAMA Chung WH, Chang WC et. al.

Aug 6th, 2014 - The antiepileptic drug phenytoin can cause cutaneous adverse reactions, ranging from maculopapular exanthema to severe cutaneous adverse reactions, which include drug reactions with eosinophilia and systemic symptoms, Stevens-Johnson syndrome, and toxic epidermal necrolysis. The pharmacogenomic basis of phenytoin-related severe cutaneous adverse reactions remains unknown. To investigate the gen...

Chimeric antigen receptor T cells for sustained remissions in leukemia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267531
The New England Journal of Medicine; Maude SL, Frey N et. al.

Oct 15th, 2014 - Relapsed acute lymphoblastic leukemia (ALL) is difficult to treat despite the availability of aggressive therapies. Chimeric antigen receptor-modified T cells targeting CD19 may overcome many limitations of conventional therapies and induce remission in patients with refractory disease. We infused autologous T cells transduced with a CD19-directed chimeric antigen receptor (CTL019) lentiviral v...

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a mu...
https://doi.org/10.1016/S0140-6736(17)31611-2
Lancet (London, England); McDonald CM, Campbell C et. al.

Jul 21st, 2017 - Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. We did this multi...

Integrated analysis of somatic mutations and focal copy-number changes identifies key g...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819251
Nature Genetics; Guichard C, Amaddeo G et. al.

May 8th, 2012 - Hepatocellular carcinoma (HCC) is the most common primary liver malignancy. Here, we performed high-resolution copy-number analysis on 125 HCC tumors and whole-exome sequencing on 24 of these tumors. We identified 135 homozygous deletions and 994 somatic mutations of genes with predicted functional consequences. We found new recurrent alterations in four genes (ARID1A, RPS6KA3, NFE2L2 and IRF2)...

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771855
Nature Ebert BL, Pretz J et. al.

Jan 18th, 2008 - Somatic chromosomal deletions in cancer are thought to indicate the location of tumour suppressor genes, by which a complete loss of gene function occurs through biallelic deletion, point mutation or epigenetic silencing, thus fulfilling Knudson's two-hit hypothesis. In many recurrent deletions, however, such biallelic inactivation has not been found. One prominent example is the 5q- syndrome, ...

Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymp...
https://doi.org/10.1016/j.jaci.2016.09.038
The Journal of Allergy and Clinical Immunology; Takagi M, Ogata S et. al.

Nov 15th, 2016 - Autoimmune diseases in children are rare and can be difficult to diagnose. Autoimmune lymphoproliferative syndrome (ALPS) is a well-characterized pediatric autoimmune disease caused by mutations in genes associated with the FAS-dependent apoptosis pathway. In addition, various genetic alterations are associated with the ALPS-like phenotype. The aim of the present study was to elucidate the gene...

FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis.
https://doi.org/10.1016/j.gene.2017.06.033
Gene Radha Rama Devi A, Panday NN et. al.

Jun 21st, 2017 - The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenit...

A dominant-negative GFI1B mutation in the gray platelet syndrome.
https://doi.org/10.1056/NEJMoa1308130
The New England Journal of Medicine; Monteferrario D, Bolar NA et. al.

Dec 11th, 2013 - The gray platelet syndrome is a hereditary, usually autosomal recessive bleeding disorder caused by a deficiency of alpha granules in platelets. We detected a nonsense mutation in the gene encoding the transcription factor GFI1B (growth factor independent 1B) that causes autosomal dominant gray platelet syndrome. Both gray platelets and megakaryocytes had abnormal marker expression. In addition...

Genomic alterations in biliary atresia suggest region of potential disease susceptibili...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2914625
American Journal of Medical Genetics. Part A; Leyva-Vega M, Gerfen J et. al.

Apr 1st, 2010 - Biliary atresia (BA) is a progressive, idiopathic obliteration of the extrahepatic biliary system occurring exclusively in the neonatal period. It is the most common disease leading to liver transplantation in children. The etiology of BA is unknown, although infectious, immune and genetic causes have been suggested. Although the recurrence of BA in families is not common, there are more than 3...

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseud...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375026
Gastroenterology Bonora E, Bianco F et. al.

Jan 12th, 2015 - Chronic intestinal pseudo-obstruction (CIPO) is characterized by severe intestinal dysmotility that mimics a mechanical subocclusion with no evidence of gut obstruction. We searched for genetic variants associated with CIPO to increase our understanding of its pathogenesis and to identify potential biomarkers. We performed whole-exome sequencing of genomic DNA from patients with familial CIPO s...

Identification of cell-type-specific mutations in nodal T-cell lymphomas.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5301031
Blood Cancer Journal; Nguyen TB, Sakata-Yanagimoto M et. al.

Feb 5th, 2017 - Recent genetic analysis has identified frequent mutations in ten-eleven translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 2 (IDH2) and ras homolog family member A (RHOA) in nodal T-cell lymphomas, including angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified. We examined the distribution of mutations in these subtypes of m...

Repression of osteocyte Wnt/β-catenin signaling is an early event in the progression of...
https://doi.org/10.1002/jbmr.1630
Journal of Bone and Mineral Research : the Official Journ... Sabbagh Y, Graciolli FG et. al.

Apr 11th, 2012 - Chronic kidney disease-mineral bone disorder (CKD-MBD) is defined by abnormalities in mineral and hormone metabolism, bone histomorphometric changes, and/or the presence of soft-tissue calcification. Emerging evidence suggests that features of CKD-MBD may occur early in disease progression and are associated with changes in osteocyte function. To identify early changes in bone, we utilized the ...

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 ...

CCL21 overexpressed on lymphatic vessels drives thymic hyperplasia in myasthenia.
https://doi.org/10.1002/ana.21628
Annals of Neurology; Berrih-Aknin S, Ruhlmann N et. al.

Oct 22nd, 2009 - Myasthenia gravis (MG), a neuromuscular disease mediated by anti-acetylcholine receptor (AChR) autoantibodies, is associated with thymic hyperplasia characterized by ectopic germinal centers that contain pathogenic antibody-producing B cells. Our thymic transcriptome study demonstrated increased expression of CCL21, a recruiter of immune cells. Accordingly, we are investigating its implication ...

Multiple sclerosis and the major histocompatibility complex.
https://doi.org/10.1097/WCO.0b013e32832b5417
Current Opinion in Neurology; Ramagopalan SV, Knight JC et. al.

Apr 23rd, 2009 - Multiple sclerosis (MS) is the most common neurological disease affecting young adults. The cause is unknown, but detailed epidemiological and genetic studies have shown a clear inherited component. We review here some of the recent findings of MS genetics with a particular focus on genes of the major histocompatibility complex (MHC). Recent studies add further complexity to the role of the MHC...