CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (
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Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (
As much attention has devoted to the proteome research during the last years, biomarker discovery has become an increasingly hot area, potentially enabling the development of new assays for diagnosis and prognosis of severe diseases. This is the field of research interest where efforts originating from both academic and industrial groups should jointly work on solutions. In this paper we would lik
Recent studies indicate a severely reduced coronary flow reserve (CFR) in neonates with congenital heart disease. The significance of these studies remains debatable, as the ability of the anatomically normal neonatal heart to increase coronary flow is currently unknown. This study was designed to establish normal values for CFR in newborns after administration of adenosine [pharmacologic CFR (pCF
On 30 May 2001, a new regulation on public access to EU documents was presented and was heralded in the European press as a breakthrough for transparency. We argue that a focus on institutions can cast light on the negotiation processes that led to this decision, and explain the final - for realist negotiation theory puzzling - outcome. We demonstrate the importance of institutions in EU negotiati
A method to calculate absolute values of the total nuclear binding energy in the high-spin regime is briefly described. Applications to test the position of specific orbitals are examplified on Z = 36 Kr isotopes with N = 36 - 38. Calculated binding energies of possible configurations for one dipole band in 199Pb are compared with experiment
Purpose of review There is increased recognition of an excess risk of cardiovascular disease in patients with rheumatic disorders. Physical inactivity is a frequent complication of arthritis, and also common in the general population. In this review, we highlight recent findings on risk factors for cardiovascular disease in patients with rheumatic diseases, and explore the role of physical activit
The EVI1 proto-oncogene encodes a nuclear zinc finger protein that acts as a transcription repressor factor. In myeloid leukemia it is often activated by chromosomal rearrangements involving band 3q26, where the gene has been mapped. Here we report two leukemia cases [a chronic myeloid leukemia blast crisis (CML-BC) and an acute myeloid leukemia (AML) M4] showing a t(3;7)(q26;q21) translocation in
The associations of dietary total carbohydrates, overall glycemic index, total dietary glycemic load, total sugars, total starch, and total fiber with endometrial cancer risk were analyzed among 288,428 women in the European Prospective Investigation into Cancer and Nutrition cohort (1992-2004), including 710 incident cases diagnosed during a mean 6.4 years of follow-up. Cox proportional hazards m
Six populations of the clonal forest floor moss Plagiomnium affine from forests of different age were screened for genetic variation at 23 allozyme loci, of which nine were polymorphic. Samples consisting of two adjacent unconnected shoots were taken at regular intervals along one transect from each population. A total of 602 shoots was analysed. Almost 80% of the shoots were sterile (i.e. not exp
Many physiological functions of the stomach depend on an intact mucosal integrity; function reflects structure and vice versa. Histamine in the stomach is synthesized by histidine decarboxylase (HDC), stored in enterochromaffin-like (ECL) cells, and released in response to gastrin, acting on CCK2 receptors on the ECL cells. Mobilized ECL cell histamine stimulates histamine H-2 receptors on the par
This report reviews developments in the early diagnosis and staging of prostate cancer and updated on the incidence of postate cancer to discuss the pros and cons of population based screening. Refinements and reliability of various diagnosic procedures are described such as PSA testing, transrectal ultrasound, ratio beteen PSA-level and ultrasound measured prostate volume, rate of change of PSA-l
We examined the associations of intake of vegetables, legumes and fruit with all-cause and cause-specific mortality in a population with prevalent diabetes in Europe. A cohort of 10,449 participants with self-reported diabetes within the European Prospective Investigation into Cancer and Nutrition study was followed for a mean of 9 y. Intakes of vegetables, legumes, and fruit were assessed at base
An effective system has been developed for purification of apolipoprotein A-1 from Escherichia coli fermentation solution and human plasma using aqueous two-phase extraction and thermal-phase separation. The system included non-ionic surfactants (Triton or Tween) and as top phase-forming polymer a random copolymer of ethylene oxide (50%) and propylene oxide (50%), Breox PAG 50A 1000, was used. The