نتایج جستجو برای: rieger syndrome

تعداد نتایج: 622129  

2006
G. Ponti

Two XMM-Newton observations of the black-hole binary GRS1915+105 were triggered in 2004 (April 17 and 21), during a long "plateau" state of the source. We analyzed the data collected with EPIC-pn in Timing and Burst modes, respectively. No thermal disc emission is required by the data; the spectrum is well fitted by four components: a primary component (either a simple power law or thermal Comp...

2016
Amy L. Miller Huw D. R. Golledge Matthew C. Leach

Over 234,000 rats were used in regulated procedures in the UK in 2014, many of which may have resulted in some degree of pain. When using animals in research, there is an ethical and legal responsibility to alleviate or at least reduce pain to an absolute minimum. To do this, we must be able to effectively assess pain in an accurate and timely manner. The Rat Grimace Scale (RGS) is a pain asses...

2016
Shazia Micheal Sorath Noorani Siddiqui Saemah Nuzhat Zafar Cristina Villanueva-Mendoza Vianney Cortés-González Muhammad Imran Khan Anneke I. den Hollander

BACKGROUND Anterior segment dysgenesis (ASD) disorders are a group of clinically and genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are affected. This study aimed to identify novel mutations in PAX6, PITX2 and FOXC1 in families with anterior segment dysgenesis disorders. METHODS We studied 14 Pakistani and one Mexican family with Axenfeld Rieger syndrome (ARS;...

Journal: :Human molecular genetics 2014
Xiao Li Shankar R Venugopalan Huojun Cao Flavia O Pinho Michael L Paine Malcolm L Snead Elena V Semina Brad A Amendt

Patients with Axenfeld-Rieger Syndrome (ARS) present various dental abnormalities, including hypodontia, and enamel hypoplasia. ARS is genetically associated with mutations in the PITX2 gene, which encodes one of the earliest transcription factors to initiate tooth development. Thus, Pitx2 has long been considered as an upstream regulator of the transcriptional hierarchy in early tooth developm...

Journal: :Vision Research 1995
E. Héon B. P. Sheth J. W. Kalenak S.L.F. Sunden L. M. Streb C. M. Taylor P. Munden W.L.M. Alward V. L. Sheffield E. M. Stone

PURPOSE: To assess the effect of change in pupU dianww induced by Tropicamide 0.5% on Snellen acuity and lclrcr cotmast senskivhy tn humans. METHODS: 20 eyes were ~sscssed wth the l'clli-Robson CS char1 and Sncllen chart pn-and posr-dilataGon (Tropicamide O.S%), with luminance kept at between ICUI and 1100 111x. RESULTS: Pupil dilatsdon was found to have lirde effect on SneUcn acuity: 13 eyes m...

Journal: :Medical physics 2006
J Y C Cheung K N Yu

Rotating gamma systems (RGSs), GammaART-6000, and its Chinese equivalents, such as OUR and MASEP, etc., are new radiosurgery systems that use rotating 60Co sources instead of the 201 static sources (Leksell gamma knife, LGK). The rotating sources of RGSs simulate an infinite number of beams and promote extremely high target to surface dose ratios. However, the results of Monte Carlo in this stu...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2000
J Y Zhou D P Siderovski R J Miller

We examined the effects of G-protein beta and gamma subunit heterodimers on human alpha(1B) (N-type) Ca channels expressed in HEK293 cells. All of the known beta subunits (beta1-beta5) produced voltage-dependent inhibition of alpha(1B) Ca channels, depending on the gamma subunit found in the heterodimer. beta1-beta4 subunits inhibited Ca channels when paired with gamma1-gamma3. However, beta5 s...

Journal: :The Journal of clinical endocrinology and metabolism 2005
Anastasia Theodoropoulou Kostas B Markou George A Vagenakis Dan Benardot Michel Leglise George Kourounis Apostolos G Vagenakis Neoklis A Georgopoulos

CONTEXT Elite gymnasts are subjected to intense training, which may alter pubertal development. OBJECTIVE The objective of the investigation was to study the impact of gymnastics on pubertal development in rhythmic (RGs) and artistic gymnasts (AGs). DESIGN Evaluation of somatometric parameters, pubertal stage, and intensity of training in the competition field were studied. SETTING The st...

Journal: :Genetics 2001
B E Xu K R Skowronek J Kurjan

The Saccharomyces cerevisiae RGS protein Sst2p is involved in desensitization to pheromone and acts as a GTPase-activating protein for the Galpha subunit Gpa1p. Other results indicate that Sst2p acts through Mpt5p and that this action occurs downstream of Fus3p and through Cln3p/Cdc28p. Our results indicate that the interaction of Sst2p with Mpt5p requires the N-terminal MPI (Mpt5p-interacting)...

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