CBP is a transcriptional coactivator required by many transcription factors for transactivation. Rubinstein-Taybi syndrome, which is an autosomal dominant syndrome characterized by abnormal pattern formation, has been shown to be associated with mutations in the Cbp gene. Furthermore, Drosophila CBP is required in hedgehog signaling for the expression of decapentapleigic, the Drosophila homolog...

We study the Kantorovich-Rubinstein transhipment problem when the difference between the source and the target is not anymore a balanced measure but belongs to a suitable subspace X(Ω) of first order distribution. A particular subclass X♯0(Ω) of such distributions will be considered which includes the infinite sums of dipoles ∑ k(δpk − δnk) studied in [28, 29]. In spite of this weakened regular...

Department of Pediatrics, Jagiellonian University Medical College, Kraków, Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland and Jeroen KJ van Houdt, Center for Human Genetics, University Hospital Gasthuisberg, Catholic University Leuven, Leuven, Belgium Correspondence to Mateusz Jagla, PhD, Department of Pediatrics, Jagiellonian University Medical College, Wielicka ...

We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended...

The genus Ifrania Glöer, Mabrouki et Taybi 2020 (Hydrobiidae) was recently described from Morocco; its type species is zerroukansis Taybi, found in the Middle Atlas massif, geographically isolated and known for other endemic molluscs. bahhouensis sp. n. a new valvatiform hydrobiid gastropod it can be distinguished I. by morphology of shell anatomical criteria. northern part Morocco, Sebou River...

The use of inbred patients whose exact genealogy may not be available is of primary interest in mapping genes involved in rare recessive diseases. We show here that this can be achieved by estimating inbreeding coefficients from the patients' genomic information and using these estimates to perform homozygosity mapping. We show the interest of the approach by mapping a gene for Taybi-Linder syn...

OBJECTIVE It was the aim of our study to present a case of Rubinstein Taybi syndome (RTS) associated with hepatic hemangioma. CLINICAL PRESENTATION AND INTERVENTION A 6.5-year-old boy was diagnosed with RTS. He had large areas of cutaneous capillary hemangiomas. Radiological examination revealed a hepatic hemangioma. A multidisciplinary follow-up program was commenced and hepatic ultrasound e...

The developmental disorder Rubinstein-Taybi syndrome (RTS) is frequently complicated by recurrent respiratory infections. In many cases this is likely to be the result of microaspiration or gastro-oesophageal reflux but, in a proportion, underlying antibody deficiency is a potentially modifiable susceptibility factor for infection. Relatively subtle, specific defects of pneumococcal antibody pr...

BACKGROUND AND OBJECTIVES Rubinstein-Taybi syndrome (RTS) is a genetic disease caused by mutation or deletion of chromosome 16, and characterized by growth and mental retardation, clubbing thumbs and toes and craniofacial abnormalities. There is little information about RTS in the anesthetic literature. This report aimed at describing the anesthetic management of a patient with Rubinstein-Taybi...