Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment, polydactyly, and kidney anomalies. The disorder is genetically heterogeneous, with 11 BBS genes identified to date, which account for ∼70% of affected families. We have combined single-nucleotide–polymorphism array homozygosity mapping with in silico analysis to identify a new BBS gene, BBS12. Patients from two Gypsy families were homozygous and haploidentical in a 6-Mb region of chromosome 4q27. FLJ35630 was selected as a candidate gene, because it was predicted to encode a protein with similarity to members of the type II chaperonin superfamily, which includes BBS6 and BBS10. We found pathogenic mutations in both Gypsy families, as well as in 14 other families of various ethnic backgrounds, indicating that BBS12 accounts for ∼5% of all BBS cases. BBS12 is vertebrate specific and, together with BBS6 and BBS10, defines a novel branch of the type II chaperonin superfamily. These three genes are characterized by unusually rapid evolution and are likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome, and together they account for about one-third of the total BBS mutational load. Consistent with this notion, suppression of each family member in zebrafish yielded gastrulation-movement defects characteristic of other BBS morphants, whereas simultaneous suppression of all three members resulted in severely affected embryos, possibly hinting at partial functional redundancy within this protein family

The SUCIMA project: A status report on high granularity dosimetry and proton beam monitoring

The SUCIMA collaboration has been developing instruments and methods for real-time, high granularity imaging of extended electron sources. In particular, dosimetry of intravascular brachytherapy beta sources has been intensively studied, together with monitoring of hadrontherapy beams by imaging of secondary electrons emitted by a non-disruptive target. The paper reports the latest results oil absolute dosimetry with a large-area silicon strip detectors and on beam monitoring with a hybrid pad sensor

The SUCIMA project: A status report on high granularity dosimetry and proton beam monitoring

LEPSIThe SUCIMA collaboration has been developing instruments and methods for real-time, high granularity imaging of extended electron sources. In particular, dosimetry of intravascular brachytherapy β sources has been intensively studied, together with monitoring of hadrontherapy beams by imaging of secondary electrons emitted by a non-disruptive target. The paper reports the latest results on absolute dosimetry with a large-area silicon strip detectors and on beam monitoring with a hybrid pad sensor

Artículo especial Guía ESC 2015 sobre el diagnóstico y tratamiento de las enfermedades del pericardio: Grupo de Trabajo de la Sociedad Europea de Cardiología (ESC) para el diagnóstico y tratamiento de las enfermedades del pericardio

[No abstract available

Spremembe komunikacijskih potreb in pravic v slovenski demokratizaciji

[No abstract available

Guidelines on the management of valvular heart disease (version 2012)

Cardiolog