142-62-1

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CTLA-4 +49A/G and CT60 gene polymorphisms in primary Sjögren syndrome.

Jacques-Eric Gottenberg et al.

Arthritis research & therapy, 9(2), R24-R24 (2007-03-08)

CTLA-4 encodes cytotoxic T lymphocyte-associated antigen-4, a cell-surface molecule providing a negative signal for T-cell activation. CTLA-4 gene polymorphisms have been widely studied in connection with genetic susceptibility to various autoimmune diseases, but studies have led to contradictory results in

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

J K Reichardt et al.

Proceedings of the National Academy of Sciences of the United States of America, 88(7), 2633-2637 (1991-04-01)

We describe the molecular characterization of two mutations responsible for galactosemia, an inherited disorder of galatose metabolism that causes jaundice, cataracts, and mental retardation in humans. The coding region of galactose-1-phosphate uridylyltransferase (GALT; UDPglucose:alpha-D-galactose-1-phosphate uridylyltransferase, EC 2.7.7.12) was amplified by

Combinations of ZAP-70, CD38 and IGHV mutational status as predictors of time to first treatment in CLL.

Alison Morilla et al.

Leukemia & lymphoma, 49(11), 2108-2115 (2008-11-21)

ZAP-70, CD38 and IGHV mutations have all been reported to have prognostic impact in chronic lymphocytic leukemia (CLL), both individually and in paired combinations. We aimed to determine whether the combination of all three factors provided more refined prognostic information

Fluorouracil, epirubicin, and cyclophosphamide (FEC-75) followed by paclitaxel plus trastuzumab versus paclitaxel plus trastuzumab followed by FEC-75 plus trastuzumab as neoadjuvant treatment for patients with HER2-positive breast cancer (Z1041): a randomised, controlled, phase 3 trial.

Aman U Buzdar et al.

The Lancet. Oncology, 14(13), 1317-1325 (2013-11-19)

Neoadjuvant chemotherapy with trastuzumab for patients with HER2-positive breast cancer can produce a pathological complete response in the breast in 30-65% of patients. We investigated the effect of the timing of trastuzumab administration with anthracycline and taxane neoadjuvant chemotherapy. This

Impact of androgen receptor cytosine-adenine-guanine polymorphisms on clinical outcome in BRCA mutation-associated epithelial ovarian cancers.

Andrew J Li et al.

Gynecologic oncology, 116(1), 105-108 (2009-10-13)

Androgen signaling may function in the pathobiology of epithelial ovarian cancers associated with mutations in the BRCA1/2 genes. Androgen receptor (AR) activity correlates inversely with length of a polymorphic cytosine-adenine-guanine (CAG) repeat in exon 1. We hypothesized that AR CAG

Exclusion of the ACE D/I gene polymorphism as a determinant of endothelial dysfunction.

G P Rossi et al.

Hypertension (Dallas, Tex. : 1979), 37(2), 293-300 (2001-03-07)

A deletion/insertion (D/I) polymorphism within the ACE gene may increase the risk of cardiovascular events through still unknown mechanisms. The latter may involve increased angiotensin II-induced NO breakdown and/or reduced agonist-mediated NO release. We therefore investigated whether the D allele

Expression of BRAF V600E mutant protein in epithelial ovarian tumors.

Matthias Preusser et al.

Applied immunohistochemistry & molecular morphology : AIMM, 21(2), 159-164 (2012-07-24)

Genetic analyses have identified BRAF V600E mutations in a subset of ovarian carcinomas. The aim of this study was to investigate the expression of BRAF V600E aberrant protein using a novel mutation-specific antibody in epithelial ovarian tumors. We immunohistochemically analyzed

Notch4, a non-HLA gene in the MHC is strongly associated with the most severe form of alopecia areata.

R Tazi-Ahnini et al.

Human genetics, 112(4), 400-403 (2003-02-18)

Alopecia areata (AA) is a disorder primarily affecting the hair and nails in which associated autoimmune or atopic disease is common. Genetically, it is a complex trait with evidence of a role for genes of the major histocompatibility complex (MHC)

The preparation and characterization of novel peptide antagonists to thrombin and factor VIIa and activation of protease-activated receptor 1.

Marvin T Nieman et al.

The Journal of pharmacology and experimental therapeutics, 311(2), 492-501 (2004-06-24)

Thrombin and protease-activated receptor 1 (PAR1) activation antagonists were prepared based upon the peptide RPPGF, the angiotensin-converting enzyme breakdown product of bradykinin. A library of 72 peptides consisting of d and/or synthetic amino acids was designed with various substitutions in

Autoantibodies to the collagenous region of C1q occur in three strains of lupus-prone mice.

M B Hogarth et al.

Clinical and experimental immunology, 104(2), 241-246 (1996-05-01)

We have developed an ELISA to measure murine autoantibodies to the collagenous region (CLR) of C1q, using the whole human C1q molecule as the solid-phase ligand, in the presence of 1 M NaCl. The assay was validated by testing positive

Factors Associated With Infarct-Related Artery Patency Before Primary Percutaneous Coronary Intervention for ST-Elevation Myocardial Infarction (from the FAST-MI 2010 Registry).

Clotilde Bailleul et al.

The American journal of cardiology, 117(1), 17-21 (2015-11-07)

Early infarct-related artery (IRA) patency is associated with better clinical outcomes in patients with ST-elevation myocardial infarction (STEMI). Using the French Registry of ST-elevation and non-ST-elevation Myocardial Infarction (FAST-MI) 2010 registry, we investigated factors related to IRA patency (thrombolysis in

Immunosuppressive treatment for proliferative lupus nephritis.

David J Tunnicliffe et al.

The Cochrane database of systematic reviews, 6, CD002922-CD002922 (2018-06-30)

Cyclophosphamide, in combination with corticosteroids, has been first-line treatment for inducing disease remission for proliferative lupus nephritis, reducing death at five years from over 50% in the 1950s and 1960s to less than 10% in recent years. Several treatment strategies

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