Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials. We performed various experiments, e.g. combined genome-wide association and next generation sequencing, to investigate the clinico-pathological features and genetic causes of three developmental syndromes in dogs, including craniomandibular osteopathy (CMO), a previously undescribed skeletal syndrome, and dental hypomineralization, for which we identified pathogenic variants in the canine SLC37A2 (truncating splicing enhancer variant), SCARF2 (truncating 2-bp deletion) and FAM20C (missense variant) genes, respectively. CMO is a clinical equivalent to an infantile cortical hyperostosis (Caffey disease), for which SLC37A2 is a new candidate gene. SLC37A2 is a poorly characterized member of a glucose-phosphate transporter family without previous disease associations. It is expressed in many tissues, including cells of the macrophage lineage, e.g. osteoclasts, and suggests a disease mechanism, in which an impaired glucose homeostasis in osteoclasts compromises their function in the developing bone, leading to hyperostosis. Mutations in SCARF2 and FAM20C have been associated with the human van den Ende-Gupta and Raine syndromes that include numerous features similar to the affected dogs. Given the growing interest in the molecular characterization and treatment of human rare diseases, our study presents three novel physiologically relevant models for further research and therapy approaches, while providing the molecular identity for the canine conditions.

The ancestors of two sisters; records of the ancestors of Helen Robina Cortelyou and Carol Van Zandt Cortelyou.

Mode of access: Internet.

Holy Family

Gerbrand van den Eeckhout; 3 ft. 3 3/8 in. x 4 ft. 7 29/32 in.; oil on canvas

Francesco d'Este (born about 1430, died after 1475), reverse, Este family coat of arms and crest

Rogier van der Weyden; 11 47/64 in.x 7 63/64 in. (painted surface); oil on wood

The Holy Family

Joos van Cleve; 1 ft. 4 47/64 in.x ft. 33/64 in.q; oil on wood

Eengezins-werkmanswoningen : 40 uitgekozen ontwerpen, ingezonden op de prijsvraag voor een blok van vier aaneen gebouwde arbeiderswoningen /

Mode of access: Internet.

Early American families : the Williams, Moore, McKitrick, Fonda, Van Allen, Lanning, King, Justice, Cunningham, Longacre, Swanson and Cox families, with numerous related families embracing the ancestors of perhaps 100,000 or more, covering over 330 years, from 1580 to 1916 /

The plates, printed on both sides, consist of family portraits.

Daily devotions for a family with occasional prayers.

Mode of access: Internet.

Redenvoering ter eere, en over de Verdiensten des doorluchtigen geslachts van Borssele, uitgesprooken te Vlissingen

Mode of access: Internet.

Changes in rural family income and spending in Tennessee, 1943-1944 /

Contribution from Bureau of Human Nutrition and Home Economics in cooperation with the College of Home Economics, Univ. of Tennessee.

The family costs of attending hospital outpatient appointments via videoconference and in person

We compared the costs incurred by families attending outpatient appointments at the Royal Children's Hospital (RCH) in Brisbane with those incurred by families who had a consultation via videoconference in their regional area. In each category 200 families were interviewed. The median time spent travelling for videoconferences was 30 min compared with 80 min for face-to-face appointments. Families interviewed in the outpatient department had travelled a median distance of 70 km, while those who had a videoconference at the local hospital had travelled only 20 km. It cost these families much more to attend an appointment at the RCH than to attend a videoconference. Ninety-six per cent of families (193) reported at least one of the following types of expense: 150 families had expenses related to parking (median A$10), 156 had fuel expenses (median A$10) and 122 reported costs related to meals purchased at the RCH (median A$10). Only 21 families who had their appointment via local videoconference reported any additional costs. Specialist appointments via videoconference were a more convenient and cheaper option for families living in regional areas of Queensland than the conventional method of attending outpatient appointments at the specialist hospital in Brisbane.

Human KLF17 is a new member of the Sp/KLF family of transcription factors

The Sp/KLF transcription factors perform a variety of biological functions, but are related in that they bind GC-box and CACCC-box sequences in DNA via a highly conserved DNA-binding domain. A database homology search, using the zinc finger DNA-binding domain characteristic of the family, has identified human KLF17 as a new family member that is most closely related to KLFs 1-8 and 12. KLF17 appears to be the human orthologue of the previously reported mouse gene, zinc finger protein 393 (Zfp393), although it has diverged significantly. The DNA-binding domain is the most conserved region, suggesting that both the murine and the human forms recognize the same binding sites in DNA and may retain similar functions. We show that human KLF17 can bind G/C-rich sites via its zinc fingers and is able to activate transcription from CACCC-box elements. This is the first report of the DNA-binding characteristics and transactivation activity of human KLF17, which, together with the homology it displays to other KLF proteins, put it in the Sp/KLF family. (c) 2006 Elsevier Inc. All rights reserved.

Családi vállalkozás folytatásának tervei a felsőoktatási hallgatók körében (The plans of students on taking over family firms)

Tanulmányában a szerző a felsőoktatási hallgatók vállalkozásindítással kapcsolatos attitűdjeit kétféle szempontból vizsgálja. Kutatása középpontjában a hallgatók családivállalkozás-folytatásának tervei, az ehhez kapcsolódó jellemzők állnak. A fő kérdés az, hogy inkább folytatnák-e a családi vállalkozást (ha van ilyen) vagy indítanának saját vállalkozást? A családi vállalkozás indításával kapcsolatban azonban nemcsak annak a ténye fontos, hogy a hallgatók folytatnák-e a családi hagyományokat, hanem az is, hogy a folytatásnak vagy a saját vállalkozás indításának milyen motivációi vannak, vagyis mennyiben befolyásolja a döntésben a hallgatót a vállalkozásokról alkotott véleménye, a családi háttere, illetve egyéb pszichológiai tényezők. ____ In her study the author analyses the attitudes of the Hungarian higher education students on taking over family firms in two points of view. In the centre of her research there are the plans of students on taking over family firms and its main characteristics. The main question is that students rather take over firms or establish new ones? Besides of these facts it is also very important to know what the main motivations of this decision are: how extent does the following facts influence students’ decisions: family background, psychological factors, opinions about firms etc.