نتایج جستجو برای: rp3

تعداد نتایج: 114  

Journal: :The Journal of heredity 2002
B Zangerl Q Zhang G M Acland G D Aguirre

X-linked retinitis pigmentosa (XLRP) is one of the most prevalent forms of a genetically heterogeneous group of inherited retinal disorders of man; more than 70% of XLRP families map to the RP2 or RP3 loci on the human X chromosome. Canine X-linked progressive retinal atrophy (XLPRA), observed in the Siberian husky, is the locus homologue of human RP3, but the gene responsible for XLPRA has not...

Journal: :American journal of human genetics 1998
L Gieser R Fujita H H Göring J Ott D R Hoffman A V Cideciyan D G Birch S G Jacobson A Swaroop

Two genetic loci, RP2 and RP3, for X-linked retinitis pigmentosa (XLRP) have been localized to Xp11.3-11.23 and Xp21.1, respectively. RP3 appears to account for 70% of XLRP families; however, mutations in the RPGR gene (isolated from the RP3 region) are identified in only 20% of affected families. Close location of XLRP loci at Xp and a lack of unambiguous clinical criteria do not permit assign...

Journal: :Annals of Oncology 2023

Colorectal cancer (CRC) is the third most frequently diagnosed and second leading cause of cancer-related mortality worldwide. PD-1/PD-L1 inhibition, in combination with other modalities, has demonstrated clinical benefit patients microsatellite instability-high or mismatch repair–deficient CRC, but little no stable (MSS) repair–proficient (pMMR) CRC. RP2 an enhanced potency oncolytic herpes si...

Journal: :Human molecular genetics 1996
R Roepman G van Duijnhoven T Rosenberg A J Pinckers L M Bleeker-Wagemakers A A Bergen J Post A Beck R Reinhardt H H Ropers F P Cremers W Berger

The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-linked RP (XLRP), has been mapped previously to a chromosome interval of less than 1000 kbp between the DXS1110 marker and the OTC locus at Xp21.1-p11.4. Employing a novel technique, YAC Representation Hybridization (YRH)', we have recently identified a small XLRP associated microdeletion in this interval, as well as several...

Journal: :The Cryosphere 2022

Abstract. This study investigates the sensitivity of modeled surface melt and subsurface heating on Antarctic ice sheet to a new spectral snow albedo radiative transfer scheme in Regional Atmospheric Climate Model (RACMO), version 2.3p3 (Rp3). We tune Rp3 observations by performing several experiments assess impact temperature incrementally changing one parameter at time. When fully tuned, comp...

Journal: :Human molecular genetics 2002
Qi Zhang Gregory M Acland Wen X Wu Jennifer L Johnson Sue Pearce-Kelling Brian Tulloch Raf Vervoort Alan F Wright Gustavo D Aguirre

The canine disease, X-linked progressive retinal atrophy (XLPRA), is similar to human RP3, an X-linked form of retinitis pigmentosa, and maps to the same region in the X chromosome. Analysis of the physical map of the XLPRA and RP3 intervals shows a high degree of conservation in terms of genes and their order. We have found different mutations in exon ORF15 of the RPGR gene in two distinct mut...

Journal: :Reproduction, nutrition, development 1991
A Prunier

Large White females were fed on a plane of nutrition close to ad libitum during the entire experimental period (CTRL group, n = 48) or restricted during a limited period of their growth (RP1 group: 28-62 kg, RP2 group: 64-96 kg, RP3 group: 97-131 kg, n = 48/group). Blood samples were taken before 200 and 230 days of age in order to detect cyclic gilts by assaying their progesterone levels. Anim...

Journal: :Stroke 1994
Y Matsuo H Onodera Y Shiga M Nakamura M Ninomiya T Kihara K Kogure

BACKGROUND AND PURPOSE Neutrophils have been implicated in the pathogenesis of ischemia-reperfusion injury. The aim of the present study was to evaluate the correlation between neutrophil infiltration into ischemic tissues and brain injury after transient focal ischemia. METHODS We evaluated the effects of depletion of circulating neutrophils by administration of an antineutrophil monoclonal ...

2014
Hafiz Muhammad Ali Giorgia Urbinati Hubert Chapuis Didier DesmaEle Jean-Rémi Bertrand Patrick Couvreur Liliane Massaad-Massade

RET/PTC3 junction oncogene is typical of radiation-induced childhood papillary thyroid carcinoma (PTC) with a short latency period. Since, RET/PTC3 is only present in the tumour cells, thus represents an interesting target for specific therapy by small interfering RNA (siRNA). Our aim is to demonstrate in vitro and in vivo molecular and cellular effects of siRNA on RET/PTC3 knockdown for therap...

Journal: :Investigative ophthalmology & visual science 2001
Q Zhang G M Acland B Zangerl J L Johnson Z Mao C J Zeiss E A Ostrander G D Aguirre

PURPOSE Canine X-linked progressive retinal atrophy (XLPRA) is a hereditary, progressive retinal degeneration that has been mapped previously to the canine X chromosome in a region flanked by the dystrophin (DMD) and tissue inhibitor of metalloproteinase 1 (TIMP1) genes, and is tightly linked to the gene RPGR. The comparable region of the human X chromosome includes the disease locus for RP3, a...

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