64-02-8

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Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.

T M Neri et al.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 35(8), 571-576 (2003-10-22)

In patients with with primary sclerosing cholangitis we investigated the major histocompatibility complex (MHC) genes and mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In 64 PSC patients and 183 normal controls of the same population (Northern Italy)

Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women.

Matthew J Delmonico et al.

The journals of gerontology. Series A, Biological sciences and medical sciences, 62(2), 206-212 (2007-03-07)

The alpha-actinin-3 (ACTN3) R577X polymorphism has been associated with muscle power performance in cross-sectional studies. We examined baseline knee extensor concentric peak power (PP) and PP change with approximately 10 weeks of unilateral knee extensor strength training (ST) using air-powered

Prognostic and predictive value of TP53 mutations in node-positive breast cancer patients treated with anthracycline- or anthracycline/taxane-based adjuvant therapy: results from the BIG 02-98 phase III trial.

Lynnette Fernández-Cuesta et al.

Breast cancer research : BCR, 14(3), R70-R70 (2012-05-04)

Pre-clinical data suggest p53-dependent anthracycline-induced apoptosis and p53-independent taxane activity. However, dedicated clinical research has not defined a predictive role for TP53 gene mutations. The aim of the current study was to retrospectively explore the prognosis and predictive values of

Transfer of the shared epitope through microchimerism in women with rheumatoid arthritis.

J M Rak et al.

Arthritis and rheumatism, 60(1), 73-80 (2009-01-02)

Rheumatoid arthritis (RA) is an autoimmune disease that affects mostly women and is associated with HLA-DRB1 genes having in common a shared epitope sequence. In parallel, cells and/or DNA originating from pregnancy (microchimerism) persist for decades and could contribute to

Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.

Marwan M Refaat et al.

Heart rhythm, 9(3), 390-396 (2011-10-19)

Dilated cardiomyopathy (DCM) is a leading cause of heart failure and death. The etiology of DCM is genetically heterogeneous. We sought to define the prevalence of mutations in the RNA splicing protein RBM20 in a large cohort with DCM and

Estrogen receptor 1 polymorphisms and risk of cognitive impairment in older women.

Kristine Yaffe et al.

Biological psychiatry, 51(8), 677-682 (2002-04-17)

Several genes associated with sporadic Alzheimer's disease have been identified; however, approximately 50% of genetic factors remain unidentified. We investigated whether estrogen receptor 1 (ESR1) polymorphisms are associated with risk of developing cognitive impairment in older women. A total of

Liraglutide as adjunct to insulin treatment in type 1 diabetes does not interfere with glycaemic recovery or gastric emptying rate during hypoglycaemia: A randomized, placebo-controlled, double-blind, parallel-group study.

Christian S Frandsen et al.

Diabetes, obesity & metabolism, 19(6), 773-782 (2016-11-22)

Glucagon-like peptide-1 receptor agonist (GLP-1RA) therapy is a potential treatment as adjunct to insulin in type 1 diabetes (T1D). However, GLP-1RAs inhibit glucagon secretion and delay the gastric emptying (GE) rate and may impair recovery from hypoglycaemia. We evaluated the

Pilot Study of Markers for High-grade Anal Dysplasia in a Southern Cohort From the Women's Interagency Human Immunodeficiency Virus Study.

Cecile D Lahiri et al.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America, 70(6), 1121-1128 (2019-05-07)

Anal cancer rates have increased, particularly in human immunodeficiency virus (HIV)-infected (HIV+) women. We assessed factors associated with anal precancer in HIV+ and at-risk HIV-negative women from the Atlanta Women's Interagency HIV Study cohort. All participants underwent high-resolution anoscopy and

Methylation capacity in children with severe cerebral palsy.

Niikee C Schoendorfer et al.

European journal of clinical investigation, 42(7), 768-776 (2012-02-04)

Methylation cycle and folate-mediated one-carbon metabolism maintenance is important for many physiological processes including neurotransmitter regulation, nerve myelination and DNA synthesis. These processes play an indispensible role in growth and development, as well as in cognitive function and neuromuscular stability

Does the etiology of a failed hemiarthroplasty affect outcomes when revised to a reverse shoulder arthroplasty?

Kimberly J Franke et al.

Journal of shoulder and elbow surgery, 29(7S), S149-S156 (2019-11-11)

The purposes of this study were to evaluate patient outcomes after revision of hemiarthroplasty to reverse shoulder arthroplasty (RSA) based on initial pathology, to determine the re-revision rate, and to identify characteristics that may predict subsequent re-revision. A total of

Effect of prenatal exposure to tobacco smoke on inhibitory control: neuroimaging results from a 25-year prospective study.

Nathalie E Holz et al.

JAMA psychiatry, 71(7), 786-796 (2014-05-16)

There is accumulating evidence relating maternal smoking during pregnancy to attention-deficit/hyperactivity disorder (ADHD) without elucidating specific mechanisms. Research investigating the neurobiological underpinnings of this disorder has implicated deficits during response inhibition. Attempts to uncover the effect of prenatal exposure to

Activity and safety of the multi-target tyrosine kinase inhibitor cabozantinib in patients with metastatic gastrointestinal stromal tumour after treatment with imatinib and sunitinib: European Organisation for Research and Treatment of Cancer phase II trial 1317 'CaboGIST'.

Patrick Schöffski et al.

European journal of cancer (Oxford, England : 1990), 134, 62-74 (2020-05-30)

Gastrointestinal stromal tumour (GIST) is commonly treated with tyrosine kinase inhibitors (TKIs), but most patients ultimately develop secondary resistance. Cabozantinib, a multi-targeted TKI inhibitor, has activity in patient-derived GIST mouse xenograft models and can overcome compensatory MET signalling occurring on

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