A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

We recently described a disorder termed Huntington disease-like 2 (HDL2) that completely segregates with an unidentified CAG/CTG expansion in a large pedigree (W). We now report the cloning of this expansion and its localization to a variably spliced exon of JPH3 (encoding junctophilin-3), a gene involved in the formation of junctional membrane structures.     

A semiparametric method for predicting bankruptcy

Bankruptcy prediction methods based on a semiparametric logit model are proposed for simple random (prospective) and case–control (choice‐based; retrospective) data. The unknown parameters and prediction probabilities in the model are estimated by the local likelihood approach, and the resulting estimators are analyzed through their asymptotic biases and variances. The semiparametric bankruptcy prediction methods using these two types of data are shown to be essentially equivalent. Thus our proposed prediction model can be directly applied to data sampled from the two important designs. One real data example and simulations confirm that our prediction method is more powerful than alternatives, in the sense of yielding smaller out‐of‐sample error rates. Copyright © 2007 John Wiley & Sons, Ltd.     

Qualitative and quantitative studies of succinic dehydrogenase in the retina of chick embryos treated with iodoacetate

Résumé Par l'injection d'iodoacétate dans l'uf de poule, on peut, par l'analyse histochimique et l'usage du microscope électronique, démontrer la présence d'une augmentation de l'activité du succinodéhydrogénase pendant la période embryonnaire.

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Supported by Grant No. G-362 of the National Council to Combat Blindness, Inc., N.Y.     

The activities of phenylalanine hydroxylase and hypoxanthine dehydrogenase in chick embryos and an attempt to induce these enzymes

Résumé Bien que l'activité de l'hydroxylase phenylalanine et de la déhydrogénase hypoxanthine dans l'embryon de poulet ne soit pas évidente, la déhydrogénase hypoxanthine augmente d'une façon rapide justement après l'éclosion. L'induction des enzymes par l'irradiation par les Rayons X n'est pas effective non plus.     

The activities of NADP transhydrogenase and cytochrome c reductases in developing chick embryos,especially at hatching

Résumé Dans les muscles pectoraux et cardiaque de l'embryon de poulet, une relation réciproque persiste entre transhydrogénase NADP et cytochrome c reductase NADPH₂, surtout à la période qui précède immédiatement l'éclosion. Cette relation exprime vraisemblablement l'accomplissement d'une plus grande demande d'énergie.     

一阶常微分方程组的奇异摄动问题

结合伸缩坐标法和多重尺度法, 对一类一阶常微分方程组的奇异摄动问题构造了一致有效的渐近展开式, 并以Duffing方程为例, 用本文的方法求得其一阶有效的渐近展开式. 结果表明, 所给方法与其他方法所得结果相符.     

Differential use of an in-frame translation initiation codon regulates human mu opioid receptor (OPRM1)

The pharmacological effects of morphine and morphine-like drugs are mediated primarily through the μ opioid receptor. Here we show that differential use of an in-frame translational start codon in the 5′-untranslated region of the OPRM1 generates different translational products in vivo and in vitro. The 5′-end of the OPRM1 gene is necessary for initiating the alternate form and for subsequent degradation of the protein. Initiation of OPRM1 at the upstream site decreases the initiation at the main AUG site. However, alternative initiation of the long form of OPRM1 produces a protein with a short half-life, resulting from degradation mediated by the ubiquitin–proteasome pathway. Reporter and degradation assays showed that mutations of this long form at the second and third lysines reduce ubiquitin-dependent proteasome degradation, stabilizing the protein. The data suggest that MOP expression is controlled in part by initiation of the long form of MOP at the alternate site.     

Simultaneous measurement of velocities of adjacent sacromere length changes in single muscle fibres

Zusammenfassung Messmethode für die Sarkomerenlänge der gestreiften Einzelmuskelfaser. Bei elektrischer Reizung verkürzen sich benachbarte Sarkomere ja nach Ausgangslänge und benachbarte Z-Linien bewegen sich mit verschiedenen Geschwindigkeiten selbst unter «isometrischen» Bedingungen.

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This study was supported in part by a grant from the China Medical Board (Grant No. 72-281) and also by a grant from the Higher Degree and Research Committee of the University of Hong Kong. We wish also to express our gratitude to Prof.K. K. Cheng for his encouragement in this study.