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About 328,096 results

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...

Inhibition of the mTORC pathway in the antiphospholipid syndrome.
https://doi.org/10.1056/NEJMoa1312890
The New England Journal of Medicine; Canaud G, Bienaimé F et. al.

Jul 23rd, 2014 - Although thrombosis is considered the cardinal feature of the antiphospholipid syndrome, chronic vascular lesions are common, particularly in patients with life-threatening complications. In patients who require transplantation, vascular lesions often recur. The molecular pathways involved in the vasculopathy of the antiphospholipid syndrome are unknown, and adequate therapies are lacking. We u...

Comparative analysis of rosacea and cutaneous lupus erythematosus: histopathologic feat...
https://doi.org/10.1016/j.jaad.2014.01.892
Journal of the American Academy of Dermatology; Brown TT, Choi EY et. al.

Mar 24th, 2014 - Distinction of rosacea and cutaneous lupus erythematosus (LE) can be challenging because of significant clinical and histologic overlap. A controlled study comparing these conditions is lacking. We compared the histologic features, T-cell subsets, and plasmacytoid dendritic cells in rosacea and LE. Biopsy specimens of rosacea (n = 27) and facial LE (n = 30) were retrospectively reviewed and rea...

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...

Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362521
Nature Medicine; Xing L, Dai Z et. al.

Aug 18th, 2014 - Alopecia areata (AA) is a common autoimmune disease resulting from damage of the hair follicle by T cells. The immune pathways required for autoreactive T cell activation in AA are not defined limiting clinical development of rational targeted therapies. Genome-wide association studies (GWAS) implicated ligands for the NKG2D receptor (product of the KLRK1 gene) in disease pathogenesis. Here, we...

Reticular erythematous mucinosis: histopathological and immunohistochemical features of...
https://doi.org/10.1111/jdv.12654
Journal of the European Academy of Dermatology and Venere... Cinotti E, Merlo V et. al.

Aug 4th, 2014 - Reticular erythematous mucinosis (REM) and lupus erythematosus tumidus (LET) share similarities. However, to our knowledge no study extensively compared the histological features of these two conditions. The aim of this study is to compare the histological and immunohistochemical features of REM and LET. We evaluated epidermal thickness, hyperkeratosis, dermo-epidermal junction changes, interst...

Eosinophilic esophagitis in adults is associated with IgG4 and not mediated by IgE.
https://doi.org/10.1053/j.gastro.2014.05.036
Gastroenterology Clayton F, Fang JC et. al.

Jun 7th, 2014 - Eosinophilic esophagitis is usually triggered by foods, by unclear mechanisms. We evaluated the roles of IgE and IgG4 in the development of eosinophilic esophagitis. We performed a prospective, randomized, double-blind, placebo-controlled trial of adults with eosinophilic esophagitis given an antibody against IgE (omalizumab, n = 16) or placebo (n = 14) every 2-4 weeks for 16 weeks, based on we...

Liver and combined lung and liver transplantation for cystic fibrosis: analysis of the ...
https://doi.org/10.1111/j.1399-3046.2010.01460.x
Pediatric Transplantation; Arnon R, Annunziato RA et. al.

Jan 11th, 2011 - A proportion of patients with CF develop cirrhosis and portal hypertension. LT and combined LLT are rarely performed in patients with CF. To determine the outcome of LT and LLT in patients with CF. Patients with CF who had LT or LLT between 10/1987 and 5/2008 were identified from UNOS database. A total of 182 children (<18 yr) and 48 adults underwent isolated LT for CF. Seven more children and ...

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, ...

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 ...

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 ...

High Frequency of Blackwater Fever Among Children Presenting to Hospital With Severe Fe...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5848229
Clinical Infectious Diseases : an Official Publication Of... Olupot-Olupot P, Engoru C et. al.

Mar 31st, 2017 - In the Fluid Expansion as a Supportive Treatment (FEAST) trial, an unexpectedly high proportion of participants from eastern Uganda presented with blackwater fever (BWF). We describe the prevalence and outcome of BWF among trial participants and compare the prevalence of 3 malaria-protective red blood cell polymorphisms in BWF cases vs both trial (non-BWF) and population controls. Of 3170 trial...

Type II enteropathy-associated T-cell lymphoma: a distinct aggressive lymphoma with fre...
https://doi.org/10.1097/PAS.0b013e318222dfcd
The American Journal of Surgical Pathology; Chan JK, Chan AC et. al.

Sep 16th, 2011 - Enteropathy-associated T-cell lymphoma (EATL), an uncommon lymphoma of intestinal intraepithelial T lymphocytes, occurs with a higher frequency in northern Europe due to association with celiac disease. Data on the occurrence of EATL in the Asian population, among whom celiac disease is very rare, are conflicting. This study aimed to characterize EATL encountered in the Chinese population in Ho...

Podocyte effacement closely links to suPAR levels at time of posttransplantation focal ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026282
Transplantation Alachkar N, Wei C et. al.

Jul 11th, 2013 - Focal segmental glomerulosclerosis (FSGS) recurs after kidney transplantation in more than 30% of cases and can lead to allograft loss. Serum soluble urokinase-type plasminogen activator receptor (suPAR) is implicated in the pathogenesis of native and recurrent FSGS. We conducted a retrospective study of 25 adults with posttransplantation FSGS. We investigated the relationship between suPAR lev...

Endothelial-to-mesenchymal transition in pulmonary hypertension.
https://doi.org/10.1161/CIRCULATIONAHA.114.008750
Circulation Ranchoux B, Antigny F et. al.

Jan 16th, 2015 - The vascular remodeling responsible for pulmonary arterial hypertension (PAH) involves predominantly the accumulation of α-smooth muscle actin-expressing mesenchymal-like cells in obstructive pulmonary vascular lesions. Endothelial-to-mesenchymal transition (EndoMT) may be a source of those α-smooth muscle actin-expressing cells. In situ evidence of EndoMT in human PAH was obtained by using con...

Analysis of PTEN and HIF-1alpha and correlation with efficacy in patients with advanced...
https://doi.org/10.1002/cncr.24438
Cancer Figlin RA, de Souza P et. al.

Jun 15th, 2009 - Exploratory subgroup analyses from the phase 3 global advanced renal cell carcinoma (ARCC) trial were conducted to determine if baseline levels of the tumor molecular markers PTEN and HIF1 alpha correlated with efficacy in patients treated with temsirolimus (Torisel) versus interferon-alpha (IFN). Patients in the IFN group received 3 million U (MU) subcutaneously 3x weekly, escalating to 18 MU....

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
https://doi.org/10.1093/brain/awu272
Brain : a Journal of Neurology; Böhm J, Biancalana V et. al.

Sep 27th, 2014 - Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear centralization. The severe neonatal X-linked form is due to mutations in MTM1, autosomal recessive centronuclear myopathy with neonatal or childhood onset results from mutations in BIN1 (amphiphysin 2), and dominant cases were previously as...