Additional file 1: Figure S1. of TLE6 mutation causes the earliest known human embryonic lethality

TLE6 is linked to a novel female-sterility phenotype in humans. Genomewide linkage analysis using all available family members from both study families shows that the only significant linkage peak, that is, LOD >3 is the one corresponding to the founder haplotype spanning TLE6 on chromosome 19. (PDF 44 kb

Additional file 1: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Clinical characteristics and biopsy results of index cases for families studied. (DOCX 223 kb

Additional file 2: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Genes included in the neurological panel. (DOC 97 kb

Additional file 4: of KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

IFT analysis in C. elegans K04F10.2( tm1830 ) mutants. a Intraflagellar transport rates in wild-type and K04F10.2(tm1830) mutant worms. Shown are the anterograde and retrograde velocities (μm.s-1/standard deviation (SD)) of GFP-tagged IFT proteins along amphid and phasmid channel cilia (combined; top rows), or phasmid cilia only (bottom rows). t-test pairwise comparison with wild-type controls, n number of particles, N measured number of amphids and phasmids. OSM-3 is the worm orthologue of KIF17; CHE-11 is the worm orthologue of IFT140; OSM-6 is the worm orthologue of IFT52. b Representative fluorescence images of phasmid cilia showing normal IFT protein localisations and distributions in tm1830 mutants. ds distal segment, ms middle segment, bb basal body region, den dendrite. All images are similarly scaled and orientated (arrow denotes basal body). Scale bar, 3 μm. c Representative kymographs (time (t) over distance (d) plots) used to generate IFT rate measurements. For each kymograph, the horizontal axis (distance) is 5 μm and the vertical axis (time) is 25 seconds. d Distribution plots of IFT protein velocities. (JPG 1951 kb

Tecnologie digitali per la valorizzazione del patrimonio culturale. La rappresentazione di beni non accessibili

Il contributo rientra nel filone delle sperimentazioni di comunicazione multimediale e di ricostruzione virtuale di architetture e frammenti urbani. Il lavoro presenta i risultati di alcune applicazioni digitali che adoperano il linguaggio multimediale per consentire la fruizione virtuale di siti per diverse ragioni non accessibili, per raccontare un percorso reale o concettuale. I casi studio analizzati si configurano quali possibili prodotti strategici di divulgazione e comunicazione per la conoscenza e la comprensione del patrimonio culturale e per la veicolazione di contenuti scientifici.The contribution is part of the study and experimentation of multimedia communication, virtual analysis and reconstruction of architectures and urban fragments. This paper shows the results of some digital applications that use multimedia language for virtual fruition and enhancement of some sites, which for several reasons, are not accessible, to tell a real or conceptual path. The cases analyzed are considered as possible strategic products of dissemination and communication for the knowledge and understanding of cultural heritage and for the transmission of scientific content

Additional file 2: Table S3. of Characterizing the morbid genome of ciliopathies

Clinical and genomic data for all cases in the study. (XLSX 83 kb

Additional file 5: Table S4. of Characterizing the morbid genome of ciliopathies

Identification of TXNDC15 interacting proteins using tandem affinity purification (TAP). The list of 224 unique proteins is significantly enriched in known or predicted ciliary proteins. (XLSX 30 kb

Additional file 1: Figure S1. of Characterizing the morbid genome of ciliopathies

Bar graph showing the percentage of the main features for each distinct ciliopathy syndrome. (PPTX 70 kb

Additional file 3: of Characterizing the morbid genome of ciliopathies

Supplemental clinical data: clinical details for the affected cases with mutations in novel candidate genes. (DOCX 35 kb

Additional file 8: Table S1. of Characterizing the morbid genome of ciliopathies

List of diagnostic criteria used to clinically classify each ciliopathy. (XLSX 10 kb